ClinVar Miner

Submissions for variant NM_004637.5(RAB7A):c.180+9A>G (rs762831187)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000528477 SCV000638304 likely benign Charcot-Marie-Tooth disease type 2B 2017-07-28 criteria provided, single submitter clinical testing
GeneDx RCV000601767 SCV000732209 likely benign not specified 2017-03-06 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.
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173970 SCV001337090 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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