Submissions for variant NM_005585.5(SMAD6):c.120C>A (p.Gly40=)

dbSNP: rs149612008

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000227243	SCV000288920	benign	Aortic valve disease 2	2024-01-23	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002354659	SCV002648985	likely benign	Inborn genetic diseases	2022-02-17	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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003323468	SCV004028941	benign	not specified	2023-07-21	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003947784	SCV004762526	benign	SMAD6-related disorder	2024-02-21	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).