Submissions for variant NM_000393.5(COL5A2):c.2947C>T (p.Pro983Ser)

gnomAD frequency: 0.00051  dbSNP: rs141644853

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001705104	SCV000250015	uncertain significance	not provided	2022-06-23	criteria provided, single submitter	clinical testing	Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Invitae	RCV002229101	SCV000547879	likely benign	Ehlers-Danlos syndrome, classic type, 1	2024-01-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002433876	SCV002747911	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2018-06-11	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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003330562	SCV004039252	likely benign	not specified	2023-08-24	criteria provided, single submitter	clinical testing