ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.1649G>T (p.Arg550Leu) (rs186233557)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000254258 SCV000308070 likely benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000254258 SCV000335713 benign not specified 2015-09-29 criteria provided, single submitter clinical testing
GeneDx RCV000254258 SCV000533455 likely benign not specified 2018-01-22 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 RCV000894899 SCV001038914 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000988827 SCV001138712 benign Stickler syndrome type 1 2019-05-28 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000894899 SCV001143206 benign not provided 2019-08-05 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000254258 SCV001159223 likely benign not specified 2018-10-04 criteria provided, single submitter clinical testing

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