ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.4536C>T (p.Ser1512=)

gnomAD frequency: 0.00003  dbSNP: rs367711669
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000755973 SCV000716578 likely benign not provided 2020-01-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002315902 SCV000738592 likely benign Familial thoracic aortic aneurysm and aortic dissection 2016-01-14 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 RCV002232576 SCV000755979 likely benign Ehlers-Danlos syndrome, classic type, 1 2024-11-30 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755973 SCV000883662 likely benign not provided 2017-10-12 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005240316 SCV005886285 benign not specified 2025-02-06 criteria provided, single submitter clinical testing

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