ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.1815+4C>T

gnomAD frequency: 0.00001  dbSNP: rs757154607
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000869447 SCV001010875 likely benign Ehlers-Danlos syndrome, type 4 2025-01-23 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001180910 SCV001345962 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-02-16 criteria provided, single submitter clinical testing
GeneDx RCV001533865 SCV001750734 likely benign not provided 2020-02-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV001180910 SCV002714101 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-03-22 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.

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