Submissions for variant NM_005902.4(SMAD3):c.984G>A (p.Pro328=)

gnomAD frequency: 0.00016  dbSNP: rs150994304

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000228670	SCV000289115	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2024-01-31	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000245109	SCV000311296	likely benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000333537	SCV000393495	uncertain significance	Loeys-Dietz syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000228670	SCV000393496	uncertain significance	Familial thoracic aortic aneurysm and aortic dissection	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001579550	SCV000730034	likely benign	not provided	2021-09-27	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000228670	SCV000738428	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2016-03-12	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.
Color Diagnostics, LLC DBA Color Health	RCV000228670	SCV001354755	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2018-11-21	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000228670	SCV002043368	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2022-04-05	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001579550	SCV001807645	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001579550	SCV001929108	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001579550	SCV001970496	likely benign	not provided		no assertion criteria provided	clinical testing