ClinVar Miner

Submissions for variant NM_004369.3(COL6A3):c.7749G>A (p.Thr2583=) (rs758582935)

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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 RCV000327744 SCV000337572 uncertain significance not provided 2017-01-19 criteria provided, single submitter clinical testing
Invitae RCV000556243 SCV000657411 likely benign Bethlem myopathy 1 2017-08-03 criteria provided, single submitter clinical testing
GeneDx RCV000327744 SCV000969157 likely benign not provided 2018-05-23 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.

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