Submissions for variant NM_005902.4(SMAD3):c.66G>A (p.Glu22=)

gnomAD frequency: 0.00039  dbSNP: rs187952791

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000198739	SCV000250748	benign	not specified	2014-11-20	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
PreventionGenetics, part of Exact Sciences	RCV000198739	SCV000311294	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000247846	SCV000320241	benign	Familial thoracic aortic aneurysm and aortic dissection	2015-09-14	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Illumina Laboratory Services, Illumina	RCV000247846	SCV000393475	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000384358	SCV000393476	likely benign	Loeys-Dietz syndrome	2016-06-14	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000198739	SCV000605215	benign	not specified	2016-08-04	criteria provided, single submitter	clinical testing
Invitae	RCV000247846	SCV000658884	benign	Familial thoracic aortic aneurysm and aortic dissection	2024-01-20	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000247846	SCV000903357	benign	Familial thoracic aortic aneurysm and aortic dissection	2018-03-08	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000198739	SCV001478698	benign	not specified	2021-01-07	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002277539	SCV002566104	likely benign	Ehlers-Danlos syndrome	2022-07-22	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000247846	SCV004239708	benign	Familial thoracic aortic aneurysm and aortic dissection	2023-01-09	criteria provided, single submitter	clinical testing