ClinVar Miner

Submissions for variant NM_001290043.2(TAP2):c.1135G>A (p.Val379Ile)

gnomAD frequency: 0.14502  dbSNP: rs1800454
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Total submissions: 5
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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 RCV000455533 SCV000540496 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 RCV001517538 SCV001726052 benign MHC class I deficiency 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001517538 SCV002062202 benign MHC class I deficiency 2021-07-15 criteria provided, single submitter clinical testing
OMIM RCV000014727 SCV000034982 benign PEPTIDE TRANSPORTER PSF2 POLYMORPHISM 1992-05-01 no assertion criteria provided literature only
GenomeConnect, ClinGen RCV001824569 SCV002074788 not provided not provided no assertion provided phenotyping only Variant interpreted as Benign and reported on 04-27-2020 by Lab or GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. This variant was reported in an individual referred for clinical diagnostic genetic testing.

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