ClinVar Miner

Submissions for variant NM_004637.5(RAB7A):c.87G>A (p.Val29=) (rs145441548)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000380709 SCV000440715 likely benign Charcot-Marie-Tooth disease, type 2 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000430623 SCV000526623 likely benign not specified 2017-10-27 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 RCV000552671 SCV000638309 benign Charcot-Marie-Tooth disease, axonal, type 2b 2017-07-13 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712887 SCV000843438 benign not provided 2018-03-26 criteria provided, single submitter clinical testing

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