ClinVar Miner

Submissions for variant NM_139215.3(TAF15):c.876C>T (p.Asp292=)

gnomAD frequency: 0.00076  dbSNP: rs149293057
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000973556 SCV001121318 benign not provided 2018-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000973556 SCV001902069 benign not provided 2021-05-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004743232 SCV005356917 likely benign TAF15-related disorder 2024-06-30 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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