ClinVar Miner

Submissions for variant NM_000593.6(TAP1):c.484G>A (p.Val162Met)

gnomAD frequency: 0.00065  dbSNP: rs147255912
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000974747 SCV001122601 likely benign MHC class I deficiency 2024-01-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004707516 SCV005225660 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003943242 SCV004759436 likely benign TAP1-related disorder 2022-05-04 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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