ClinVar Miner

Submissions for variant NM_015074.3(KIF1B):c.293A>T (p.Gln98Leu) (rs121908160)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000004921 SCV000025097 pathogenic Charcot-Marie-Tooth disease, type 2A1 2001-06-01 no assertion criteria provided literature only
GeneReviews RCV000192235 SCV000239883 pathogenic Charcot-Marie-Tooth disease 2015-04-30 no assertion criteria provided literature only

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