Submissions for variant NM_000093.5(COL5A1):c.1896C>T (p.Phe632=)

gnomAD frequency: 0.00005  dbSNP: rs376478864

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000724517	SCV000226716	uncertain significance	not provided	2015-01-19	criteria provided, single submitter	clinical testing
GeneDx	RCV000225726	SCV000249737	benign	not specified	2015-04-23	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	RCV002228784	SCV001667394	likely benign	Ehlers-Danlos syndrome, classic type, 1	2024-08-14	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002277351	SCV002565681	likely benign	Ehlers-Danlos syndrome	2019-08-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002408760	SCV002723913	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2024-07-02	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.