ClinVar Miner

Submissions for variant NM_000593.6(TAP1):c.1770A>G (p.Val590=)

gnomAD frequency: 0.00004  dbSNP: rs571926211
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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 RCV001487660 SCV001692156 likely benign MHC class I deficiency 2023-03-08 criteria provided, single submitter clinical testing

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