ClinVar Miner

Submissions for variant NM_004606.5(TAF1):c.2428-10T>C

gnomAD frequency: 0.00099  dbSNP: rs200950354
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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 RCV000865029 SCV001005930 benign not provided 2025-01-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003938264 SCV004752618 likely benign TAF1-related disorder 2023-04-14 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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