ClinVar Miner

Submissions for variant NM_002047.4(GARS1):c.647A>G (p.His216Arg) (rs768987322)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001253591 SCV001429389 likely pathogenic Charcot-Marie-Tooth disease type 2D 2019-05-15 criteria provided, single submitter clinical testing
Genesis Genome Database RCV000857176 SCV000999757 uncertain significance Distal spinal muscular atrophy 2019-08-14 no assertion criteria provided research
OMIM RCV001260979 SCV001438351 pathogenic Distal hereditary motor neuronopathy type 5 2020-10-15 no assertion criteria provided literature only

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