ClinVar Miner

Submissions for variant NM_139215.3(TAF15):c.1344A>G (p.Gly448=)

gnomAD frequency: 0.00010  dbSNP: rs1321826060
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001617823 SCV001846027 benign not provided 2021-06-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003948648 SCV004757108 likely benign TAF15-related disorder 2023-10-03 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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