ClinVar Miner

Submissions for variant NM_002180.3(IGHMBP2):c.1538-11_1538-8del

dbSNP: rs1566444289
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, London Health Sciences Centre RCV001174200 SCV001337326 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Invitae RCV002559671 SCV002943438 likely benign Autosomal recessive distal spinal muscular atrophy 1; Charcot-Marie-Tooth disease axonal type 2S 2023-02-17 criteria provided, single submitter clinical testing

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