ClinVar Miner

Submissions for variant NM_014365.2(HSPB8):c.423G>C (p.Lys141Asn) (rs104894345)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000002735 SCV000022893 pathogenic Distal hereditary motor neuronopathy type 2A 2004-06-01 no assertion criteria provided literature only
GeneReviews RCV000192251 SCV000239899 pathogenic Charcot-Marie-Tooth disease 2015-04-30 no assertion criteria provided literature only

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