ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.507C>T (p.Leu169=)

gnomAD frequency: 0.00001  dbSNP: rs142437505
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001525040 SCV001735037 likely benign Familial thoracic aortic aneurysm and aortic dissection 2020-08-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV001525040 SCV002643642 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-07-27 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 RCV003523094 SCV004254269 likely benign Ehlers-Danlos syndrome, type 4 2023-10-18 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003523094 SCV004832995 likely benign Ehlers-Danlos syndrome, type 4 2023-11-30 criteria provided, single submitter clinical testing

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