ClinVar Miner

Submissions for variant NM_002180.3(IGHMBP2):c.1418+18A>G

gnomAD frequency: 0.06280  dbSNP: rs112575423
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000249077 SCV000308709 benign not specified criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173362 SCV001336450 benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
GeneDx RCV001668478 SCV001890802 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002058099 SCV002373798 benign Autosomal recessive distal spinal muscular atrophy 1; Charcot-Marie-Tooth disease axonal type 2S 2024-02-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001668478 SCV005321485 benign not provided criteria provided, single submitter not provided

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