Submissions for variant NM_000093.5(COL5A1):c.3987C>T (p.Pro1329=)

gnomAD frequency: 0.00004  dbSNP: rs770802769

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV002310950	SCV000319613	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2015-05-15	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV002229821	SCV001678689	likely benign	Ehlers-Danlos syndrome, classic type, 1	2024-10-30	criteria provided, single submitter	clinical testing
GeneDx	RCV000525688	SCV001785798	likely benign	not provided	2019-11-01	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 29924831)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV005238798	SCV005886764	likely benign	not specified	2025-02-03	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000525688	SCV002035203	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000525688	SCV002038459	likely benign	not provided		no assertion criteria provided	clinical testing