Submissions for variant NM_005901.6(SMAD2):c.87C>T (p.Gly29=)

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV002373707	SCV002687299	likely benign	Inborn genetic diseases	2022-07-29	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV003100030	SCV002929480	likely benign	not provided	2024-02-15	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV003100030	SCV003799257	likely benign	not provided	2022-09-21	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004548286	SCV004785470	likely benign	SMAD2-related disorder	2019-08-14	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).