ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.1281G>A (p.Leu427=)

dbSNP: rs750476636
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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 RCV001179267 SCV001343879 likely benign Familial thoracic aortic aneurysm and aortic dissection 2020-02-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003633561 SCV004513536 likely benign Ehlers-Danlos syndrome, type 4 2023-11-13 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003633561 SCV005427289 likely benign Ehlers-Danlos syndrome, type 4 2024-08-06 criteria provided, single submitter clinical testing

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