ClinVar Miner

Submissions for variant NM_001540.5(HSPB1):c.567C>T (p.Ala189=) (rs528301561)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000233138 SCV000287164 benign Charcot-Marie-Tooth disease axonal type 2F 2019-12-31 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001172554 SCV001335616 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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