ClinVar Miner

Submissions for variant NM_002047.4(GARS1):c.548T>C (p.Leu183Pro) (rs137852644)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000009783 SCV000030004 pathogenic Distal hereditary motor neuronopathy type 5 2003-05-01 no assertion criteria provided literature only
Genesis Genome Database RCV000857175 SCV000999756 uncertain significance Charcot-Marie-Tooth disease 2019-08-14 no assertion criteria provided research

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