ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.1023C>T (p.Ala341=)

gnomAD frequency: 0.00002  dbSNP: rs373392096
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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 RCV001525166 SCV001735208 likely benign Familial thoracic aortic aneurysm and aortic dissection 2020-11-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002070319 SCV002322094 likely benign Ehlers-Danlos syndrome, type 4 2024-11-09 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV002070319 SCV004826785 likely benign Ehlers-Danlos syndrome, type 4 2023-05-08 criteria provided, single submitter clinical testing

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