PreprintAll rights reservedmedRxiv2 Nov 2026

Variant Classification of a Non-Protein Coding Gene: ACMG/AMP Specifications for RMRP from the Clinical Genome Resource Severe Combined Immunodeficiency Disease Variant Curation Expert Panel

V. C. Jacovas
Y. Demirkol
A. Nieto-Patlan
S. Martin
S. McNulty
E. J. Allenspach
S. Vakkilainen
L. D. Notarangelo
J. M. Puck
J. Walter
A. Y. Chan
M. J. Cowan

12 more authors

M. S. Hershfield
N. S. C. van Oers
J. Verbsky
B. H.-Y. Chung
R. Ghosh
X. Luo
M. Piazza
K. V. Schulze
T. A. Sivakumaran
B. Yuan
B. A. Johnson
I. K. Chinn¹

¹Department of Pediatrics, Baylor College of Medicine, Houston, TX; Division of Pediatric Immunology, Allergy, and Retrovirology, Texas Childrens Hospital, Houst

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BibTeX

@misc{jacovas2026variant,
  title = {{Variant Classification of a Non-Protein Coding Gene: ACMG/AMP Specifications for RMRP from the Clinical Genome Resource Severe Combined Immunodeficiency Disease Variant Curation Expert Panel}},
  author = {V. C. Jacovas and Y. Demirkol and A. Nieto-Patlan and S. Martin and S. McNulty and E. J. Allenspach and S. Vakkilainen and L. D. Notarangelo and J. M. Puck and J. Walter and A. Y. Chan and M. J. Cowan and M. S. Hershfield and N. S. C. van Oers and J. Verbsky and B. H.-Y. Chung and R. Ghosh and X. Luo and M. Piazza and K. V. Schulze and T. A. Sivakumaran and B. Yuan and B. A. Johnson and I. K. Chinn},
  howpublished = {medRxiv},
  year = {2026},
  month = nov,
  doi = {10.64898/2026.11.02.26366506},
  url = {https://www.medrxiv.org/content/10.64898/2026.11.02.26366506v1},
}

RIS

TY  - UNPB
TI  - Variant Classification of a Non-Protein Coding Gene: ACMG/AMP Specifications for RMRP from the Clinical Genome Resource Severe Combined Immunodeficiency Disease Variant Curation Expert Panel
AU  - V. C. Jacovas
AU  - Y. Demirkol
AU  - A. Nieto-Patlan
AU  - S. Martin
AU  - S. McNulty
AU  - E. J. Allenspach
AU  - S. Vakkilainen
AU  - L. D. Notarangelo
AU  - J. M. Puck
AU  - J. Walter
AU  - A. Y. Chan
AU  - M. J. Cowan
AU  - M. S. Hershfield
AU  - N. S. C. van Oers
AU  - J. Verbsky
AU  - B. H.-Y. Chung
AU  - R. Ghosh
AU  - X. Luo
AU  - M. Piazza
AU  - K. V. Schulze
AU  - T. A. Sivakumaran
AU  - B. Yuan
AU  - B. A. Johnson
AU  - I. K. Chinn
PY  - 2026
DA  - 2026/11/02
PB  - medRxiv
DO  - 10.64898/2026.11.02.26366506
UR  - https://www.medrxiv.org/content/10.64898/2026.11.02.26366506v1
ER  -

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