ClinVar Miner

Submissions for variant NM_002180.3(IGHMBP2):c.548-19G>A

gnomAD frequency: 0.00003  dbSNP: rs1052895374
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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 RCV001174183 SCV001337309 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003769854 SCV004578437 likely benign Autosomal recessive distal spinal muscular atrophy 1; Charcot-Marie-Tooth disease axonal type 2S 2023-12-06 criteria provided, single submitter clinical testing

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