ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.4080C>G (p.Leu1360=)

gnomAD frequency: 0.00001  dbSNP: rs771682647
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001180370 SCV000319465 likely benign Familial thoracic aortic aneurysm and aortic dissection 2015-03-03 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.
Color Diagnostics, LLC DBA Color Health RCV001180370 SCV001345290 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-01-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001396555 SCV001598287 likely benign Ehlers-Danlos syndrome, type 4 2025-01-29 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001396555 SCV004825642 likely benign Ehlers-Danlos syndrome, type 4 2023-11-30 criteria provided, single submitter clinical testing

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