ClinVar Miner

Submissions for variant NM_004369.3(COL6A3):c.1056C>T (p.Leu352=) (rs78365682)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000252161 SCV000310138 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV001089253 SCV000657237 likely benign Bethlem myopathy 1 2019-12-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000730871 SCV000858638 uncertain significance not provided 2017-12-12 criteria provided, single submitter clinical testing

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