ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.708C>T (p.Pro236=)

gnomAD frequency: 0.00003  dbSNP: rs775390389
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001422815 SCV001625373 likely benign Ehlers-Danlos syndrome, type 4 2022-08-23 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001805915 SCV002052917 likely benign Familial thoracic aortic aneurysm and aortic dissection 2021-03-02 criteria provided, single submitter clinical testing

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