ClinVar Miner

Submissions for variant NM_014365.2(HSPB8):c.422A>T (p.Lys141Met) (rs1565929090)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biochimie - Maladies Neurologiques Hereditaires,Hospices Civils de Lyon RCV000678501 SCV000804568 pathogenic Charcot-Marie-Tooth disease, type 2L 2017-02-02 criteria provided, single submitter clinical testing

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