ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.1461C>T (p.Ala487=)

dbSNP: rs747522483
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000441823 SCV000521606 likely benign not specified 2015-11-18 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.
CeGaT Center for Human Genetics Tuebingen RCV000997614 SCV001153220 uncertain significance not provided 2016-06-01 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001187377 SCV001354151 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-06-03 criteria provided, single submitter clinical testing
Invitae RCV003522969 SCV004305166 likely benign Ehlers-Danlos syndrome, type 4 2023-05-19 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003522969 SCV004832424 likely benign Ehlers-Danlos syndrome, type 4 2023-04-15 criteria provided, single submitter clinical testing

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