ClinVar Miner

Submissions for variant NM_000593.6(TAP1):c.363C>A (p.Ala121=)

gnomAD frequency: 0.00001  dbSNP: rs1275960530
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001408443 SCV001610444 likely benign MHC class I deficiency 2020-09-16 criteria provided, single submitter clinical testing

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