ClinVar Miner

Submissions for variant NM_004606.5(TAF1):c.2688G>A (p.Glu896=)

gnomAD frequency: 0.00059  dbSNP: rs148921433
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000862319 SCV001002808 benign not provided 2023-12-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000862319 SCV004165768 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing TAF1: BP4, BP7, BS2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000862319 SCV001743335 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000862319 SCV001974293 likely benign not provided no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004753058 SCV005359798 likely benign TAF1-related disorder 2024-03-07 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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