ClinVar Miner

Submissions for variant NM_000215.4(JAK3):c.1187C>T (p.Pro396Leu)

gnomAD frequency: 0.00002  dbSNP: rs149047410
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001511367 SCV001718599 benign T-B+ severe combined immunodeficiency due to JAK3 deficiency 2024-01-31 criteria provided, single submitter clinical testing
ITMI RCV000121276 SCV000085447 not provided not specified 2013-09-19 no assertion provided reference population

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