ClinVar Miner

Submissions for variant NM_002047.4(GARS1):c.893C>T (p.Pro298Leu) (rs137852648)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000009789 SCV000030010 pathogenic Charcot-Marie-Tooth disease type 2D 2009-05-01 no assertion criteria provided literature only
GeneReviews RCV001542255 SCV001760933 pathogenic Charcot-Marie-Tooth disease type 2D; Distal hereditary motor neuronopathy type 5 2021-07-14 no assertion criteria provided literature only GARS1-HMSN (CMT2D & dSMA-V) [Abe & Hayasaka 2009, Griffin et al 2014]

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