Submissions for variant NM_005902.4(SMAD3):c.207-10G>A

gnomAD frequency: 0.00025  dbSNP: rs201912204

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000725406	SCV000336735	uncertain significance	not provided	2015-11-03	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000289923	SCV000393477	uncertain significance	Familial thoracic aortic aneurysm and aortic dissection	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000349665	SCV000393478	uncertain significance	Loeys-Dietz syndrome	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000266847	SCV000514697	benign	not specified	2015-12-01	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000289923	SCV000556216	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2024-01-18	criteria provided, single submitter	clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000660267	SCV000782291	likely benign	Connective tissue disorder	2016-11-01	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000289923	SCV001355719	benign	Familial thoracic aortic aneurysm and aortic dissection	2018-11-14	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002278286	SCV002566095	uncertain significance	Ehlers-Danlos syndrome	2020-03-01	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV003114445	SCV003799966	likely benign	Aneurysm-osteoarthritis syndrome	2022-03-01	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000266847	SCV004028974	benign	not specified	2023-07-16	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV003114445	SCV004821014	benign	Aneurysm-osteoarthritis syndrome	2024-02-05	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004543040	SCV004764621	likely benign	SMAD3-related disorder	2023-12-20	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).