ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.5394G>A (p.Thr1798=)

gnomAD frequency: 0.00002  dbSNP: rs200515325
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001698485 SCV000727598 likely benign not provided 2019-11-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002343147 SCV002646713 likely benign Familial thoracic aortic aneurysm and aortic dissection 2021-11-04 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 RCV002528654 SCV003447549 benign Ehlers-Danlos syndrome, classic type, 1 2023-11-24 criteria provided, single submitter clinical testing

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