Submissions for variant NM_014423.4(AFF4):c.830G>C (p.Ser277Thr)

gnomAD frequency: 0.00073  dbSNP: rs141068875

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000945330	SCV001091325	likely benign	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	2023-12-26	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001818923	SCV002069727	benign	not specified	2018-08-28	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000945330	SCV002524741	benign	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	2021-12-05	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002547173	SCV003703954	likely benign	Inborn genetic diseases	2021-11-30	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
Breakthrough Genomics, Breakthrough Genomics	RCV004705945	SCV005224743	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV003913195	SCV004737087	likely benign	AFF4-related disorder	2021-06-14	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).