ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.4174C>T (p.Leu1392=)

gnomAD frequency: 0.00001  dbSNP: rs527694833
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001186502 SCV001352944 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-11-14 criteria provided, single submitter clinical testing
Invitae RCV002560887 SCV003489827 likely benign Ehlers-Danlos syndrome, type 4 2023-02-08 criteria provided, single submitter clinical testing

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