ClinVar Miner

Submissions for variant NM_000215.4(JAK3):c.913C>T (p.Gln305Ter)

dbSNP: rs786205517
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001331071 SCV001522994 pathogenic T-B+ severe combined immunodeficiency due to JAK3 deficiency 2020-06-09 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV001331071 SCV004804668 pathogenic T-B+ severe combined immunodeficiency due to JAK3 deficiency 2024-03-17 criteria provided, single submitter research
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV000171280 SCV000221477 likely pathogenic not provided flagged submission research

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