ClinVar Miner

Submissions for variant NM_001849.3(COL6A2):c.2610C>T (p.Asp870=) (rs116817879)

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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 RCV000079882 SCV000111765 benign not specified 2015-12-01 criteria provided, single submitter clinical testing
GeneDx RCV001719829 SCV000532088 likely benign not provided 2021-02-11 criteria provided, single submitter clinical testing
Invitae RCV000533399 SCV000657163 benign Bethlem myopathy 1 2020-10-28 criteria provided, single submitter clinical testing

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