ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.1176T>C (p.Pro392=)

gnomAD frequency: 0.00003  dbSNP: rs778702019
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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 RCV001188137 SCV001355111 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-02-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002068492 SCV002357063 likely benign Ehlers-Danlos syndrome, type 4 2023-11-21 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV002068492 SCV004826896 likely benign Ehlers-Danlos syndrome, type 4 2023-07-10 criteria provided, single submitter clinical testing

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