ClinVar Miner

Submissions for variant NM_001290043.2(TAP2):c.1308C>T (p.Asn436=)

gnomAD frequency: 0.08275  dbSNP: rs1042116
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000455096 SCV000540495 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
Labcorp Genetics (formerly Invitae), Labcorp RCV001520389 SCV001729477 benign MHC class I deficiency 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001709653 SCV001937856 benign not provided 2020-06-16 criteria provided, single submitter clinical testing

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