ClinVar Miner

Submissions for variant NM_001290043.2(TAP2):c.739+12A>T

gnomAD frequency: 0.05022  dbSNP: rs28724898
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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 RCV000454420 SCV000540497 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 RCV001512224 SCV001719602 benign MHC class I deficiency 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001692124 SCV001911281 benign not provided 2020-09-08 criteria provided, single submitter clinical testing

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