ClinVar Miner

Submissions for variant NM_004606.5(TAF1):c.4729C>G (p.Leu1577Val)

gnomAD frequency: 0.00003  dbSNP: rs770995986
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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 RCV002629549 SCV003521872 benign not provided 2024-05-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003973725 SCV004790716 likely benign TAF1-related disorder 2021-01-05 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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