ClinVar Miner

Submissions for variant NM_004369.3(COL6A3):c.3680-5C>T (rs370146203)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000116796 SCV000150835 uncertain significance not specified 2016-07-12 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000724221 SCV000233068 uncertain significance not provided 2016-11-15 criteria provided, single submitter clinical testing
GeneDx RCV000116796 SCV000724641 likely benign not specified 2017-11-13 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001084876 SCV001019807 likely benign Bethlem myopathy 1 2019-12-31 criteria provided, single submitter clinical testing

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