ClinVar Miner

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

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University RCV001095539 SCV001251041 likely pathogenic Spinal muscular atrophy, distal, autosomal recessive, 1 2020-03-31 criteria provided, single submitter research
OMIM RCV001095539 SCV000029901 pathogenic Spinal muscular atrophy, distal, autosomal recessive, 1 2001-09-01 no assertion criteria provided literature only
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

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