ClinVar Miner

Submissions for variant NM_000593.6(TAP1):c.1561C>T (p.Leu521=)

gnomAD frequency: 0.00007  dbSNP: rs372643992
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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 RCV002119500 SCV002394542 likely benign MHC class I deficiency 2023-07-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003893291 SCV004718814 likely benign TAP1-related disorder 2019-06-12 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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