ClinVar Miner

Submissions for variant NM_001540.5(HSPB1):c.365-7C>G (rs201897299)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000543506 SCV000640211 likely benign Charcot-Marie-Tooth disease type 2F 2017-08-10 criteria provided, single submitter clinical testing
GeneDx RCV000610624 SCV000716027 likely benign not specified 2017-02-23 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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