ClinVar Miner

Submissions for variant NM_002180.3(IGHMBP2):c.2931G>C (p.Leu977=)

gnomAD frequency: 0.00001  dbSNP: rs768924538
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, London Health Sciences Centre RCV001172577 SCV001335640 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
GeneDx RCV001586018 SCV001811482 likely benign not provided 2021-05-11 criteria provided, single submitter clinical testing
Invitae RCV002068057 SCV002337333 likely benign Autosomal recessive distal spinal muscular atrophy 1; Charcot-Marie-Tooth disease axonal type 2S 2023-11-20 criteria provided, single submitter clinical testing

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