Submissions for variant NM_006662.3(SRCAP):c.8482C>T (p.Arg2828Cys)

dbSNP: rs144623507

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital	RCV000736102	SCV000864372	benign	not specified	2017-10-04	criteria provided, single submitter	clinical testing	BS1, BS2, BP1; This alteration has an allele frequency that is greater than expected for the associated disease, was seen in a healthy adult where full penetrance of the disorder is expected at an early age, and is a missense alteration in a gene for which primarily truncating variants are known to cause disease.
Invitae	RCV000917490	SCV001062768	likely benign	not provided	2023-12-22	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV003166000	SCV003865293	likely benign	Inborn genetic diseases	2023-02-16	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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	RCV003928253	SCV004738431	likely benign	SRCAP-related condition	2022-09-28	criteria provided, single submitter	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).