ClinVar Miner

Submissions for variant NM_139215.3(TAF15):c.1380_1403del (p.454GYGGDRGG[3])

dbSNP: rs768749438
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001756386 SCV001985116 benign not provided 2021-10-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003941118 SCV004764749 likely benign TAF15-related disorder 2023-03-17 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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