ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.1870-14T>C

gnomAD frequency: 0.00001  dbSNP: rs201315795
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001181253 SCV001346353 benign Familial thoracic aortic aneurysm and aortic dissection 2019-11-15 criteria provided, single submitter clinical testing
Invitae RCV003523066 SCV004275810 likely benign Ehlers-Danlos syndrome, type 4 2023-09-17 criteria provided, single submitter clinical testing

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