ClinVar Miner

Submissions for variant NM_002180.2(IGHMBP2):c.449+1G>T (rs797044802)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Medical Genetics, Oslo University Hospital RCV000240669 SCV000255980 likely pathogenic Charcot-Marie-Tooth disease, axonal, type 2S 2015-10-21 criteria provided, single submitter research
Kariminejad - Najmabadi Pathology & Genetics Center RCV000240669 SCV001167085 pathogenic Charcot-Marie-Tooth disease, axonal, type 2S criteria provided, single submitter clinical testing
GeneReviews RCV000192263 SCV000239911 pathogenic Charcot-Marie-Tooth disease 2015-04-30 no assertion criteria provided literature only
OMIM RCV000240669 SCV000245705 pathogenic Charcot-Marie-Tooth disease, axonal, type 2S 2015-02-03 no assertion criteria provided literature only
Inherited Neuropathy Consortium RCV000789355 SCV000928709 uncertain significance Autosomal dominant distal hereditary motor neuropathy no assertion criteria provided literature only

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