ClinVar Miner

Submissions for variant NM_004637.5(RAB7A):c.219C>T (p.Leu73=) (rs4548)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000127682 SCV000171261 benign not specified 2014-04-03 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.
Illumina Clinical Services Laboratory,Illumina RCV000291196 SCV000440716 likely benign Charcot-Marie-Tooth disease, type 2 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000538645 SCV000638305 benign Charcot-Marie-Tooth disease, axonal, type 2b 2017-08-10 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000538645 SCV000677438 benign Charcot-Marie-Tooth disease, axonal, type 2b 2017-04-25 criteria provided, single submitter clinical testing

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