Submissions for variant NM_000090.4(COL3A1):c.130G>A (p.Val44Ile)

gnomAD frequency: 0.00162  dbSNP: rs79632685

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001704860	SCV000233340	likely benign	not provided	2021-04-01	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 25758994)
Labcorp Genetics (formerly Invitae), Labcorp	RCV000226945	SCV000283453	likely benign	Ehlers-Danlos syndrome, type 4	2024-01-20	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001183976	SCV000319422	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2019-07-22	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.
Color Diagnostics, LLC DBA Color Health	RCV001183976	SCV001349838	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2018-11-14	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003330540	SCV004038854	likely benign	not specified	2023-08-10	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001704860	SCV004562108	likely benign	not provided	2023-09-22	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV000226945	SCV005427235	likely benign	Ehlers-Danlos syndrome, type 4	2024-09-23	criteria provided, single submitter	clinical testing