ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.2376A>C (p.Gly792=) (rs35860166)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000177825 SCV000229765 benign not specified 2015-05-22 criteria provided, single submitter clinical testing
GeneDx RCV001704848 SCV000523515 likely benign not provided 2020-09-15 criteria provided, single submitter clinical testing
Invitae RCV000634660 SCV000755994 benign Ehlers-Danlos syndrome, classic type I 2020-09-09 criteria provided, single submitter clinical testing

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