ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.80-8T>C

gnomAD frequency: 0.00001  dbSNP: rs1241543816
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000929431 SCV001075062 likely benign Ehlers-Danlos syndrome, type 4 2022-12-19 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001183325 SCV001349038 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-12-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004533580 SCV004710184 likely benign COL3A1-related disorder 2021-03-22 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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