ClinVar Miner

Submissions for variant NM_139315.3(TAF6):c.1396G>T (p.Ala466Ser)

gnomAD frequency: 0.00153  dbSNP: rs144875978
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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 RCV000968848 SCV001116328 likely benign not provided 2024-10-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000968848 SCV004032757 uncertain significance not provided 2023-07-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003905958 SCV004725565 likely benign TAF6-related disorder 2022-04-06 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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