ClinVar Miner

Submissions for variant NM_002180.3(IGHMBP2):c.1202A>G (p.His401Arg)

dbSNP: rs1566439723
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biochemistry Laboratory of CDMU, Chengde Medical University RCV000768428 SCV000899183 pathogenic Charcot-Marie-Tooth disease axonal type 2S no assertion criteria provided case-control

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