ClinVar Miner

Submissions for variant NM_000215.4(JAK3):c.2919G>A (p.Leu973=)

gnomAD frequency: 0.00003  dbSNP: rs769510241
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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 RCV002091021 SCV002385311 likely benign T-B+ severe combined immunodeficiency due to JAK3 deficiency 2025-01-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004704723 SCV005210746 likely benign not provided criteria provided, single submitter not provided

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