ClinVar Miner

Submissions for variant NM_001290043.2(TAP2):c.1932C>T (p.Ala644=)

gnomAD frequency: 0.00009  dbSNP: rs200318579
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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 RCV000920812 SCV001066191 likely benign MHC class I deficiency 2025-02-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003970481 SCV004780216 likely benign TAP2-related disorder 2023-06-22 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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