Submissions for variant NM_004606.5(TAF1):c.830AGG[3] (p.Glu278dup)

dbSNP: rs773753966

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000515024	SCV000610722	likely benign	not provided	2017-02-17	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000515024	SCV001001560	benign	not provided	2025-01-20	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002524994	SCV003552263	benign	Inborn genetic diseases	2022-06-16	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences	RCV003915438	SCV004743485	benign	TAF1-related disorder	2021-01-05	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).