ClinVar Miner

Submissions for variant NM_002180.2(IGHMBP2):c.638A>G (p.His213Arg) (rs137852666)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics,Cologne University RCV000664227 SCV000787792 pathogenic Charcot-Marie-Tooth disease, axonal, type 2S 2018-04-25 no assertion criteria provided clinical testing
OMIM RCV000009683 SCV000029901 pathogenic Werdnig-Hoffmann disease 2001-09-01 no assertion criteria provided literature only

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