ClinVar Miner

Submissions for variant NM_002180.2(IGHMBP2):c.1235+894C>A (rs1202430946)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network,NIH RCV000626052 SCV000746672 pathogenic Charcot-Marie-Tooth disease, axonal, type 2S 2017-03-24 criteria provided, single submitter research This individual has been reported in PMID: 31020813.

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