ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.4155T>C (p.Asn1385=)

dbSNP: rs2153504334
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001538734 SCV001756424 likely benign not provided 2019-10-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV004039246 SCV005032223 likely benign Familial thoracic aortic aneurysm and aortic dissection 2023-10-10 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 RCV005094754 SCV005833267 likely benign Ehlers-Danlos syndrome, type 4 2024-02-02 criteria provided, single submitter clinical testing

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