ClinVar Miner

Submissions for variant NM_001290043.2(TAP2):c.608+8G>A

gnomAD frequency: 0.03652  dbSNP: rs2071467
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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 RCV001519355 SCV001728211 benign MHC class I deficiency 2024-01-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003980578 SCV004794264 benign TAP2-related disorder 2019-09-23 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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