ClinVar Miner

Submissions for variant NM_001290043.2(TAP2):c.2059T>C (p.Ter687Gln)

gnomAD frequency: 0.26784  dbSNP: rs241448
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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 RCV000454970 SCV000540489 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
Mendelics RCV000987674 SCV001137088 benign MHC class I deficiency 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000987674 SCV001729472 benign MHC class I deficiency 2024-02-01 criteria provided, single submitter clinical testing

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