ClinVar Miner

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

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000002737 SCV000022895 pathogenic Charcot-Marie-Tooth disease, type 2L 2005-02-01 no assertion criteria provided literature only
GeneReviews RCV000192250 SCV000239898 pathogenic Charcot-Marie-Tooth disease 2015-04-30 no assertion criteria provided literature only
Inherited Neuropathy Consortium RCV000192250 SCV000929353 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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