ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.4255-14G>A

gnomAD frequency: 0.00004  dbSNP: rs758216726
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001183423 SCV001349142 likely benign Familial thoracic aortic aneurysm and aortic dissection 2020-01-14 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004008380 SCV004817413 likely benign Ehlers-Danlos syndrome, type 4 2023-03-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV004008380 SCV005770842 likely benign Ehlers-Danlos syndrome, type 4 2024-06-20 criteria provided, single submitter clinical testing

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