ClinVar Miner

Submissions for variant NM_002180.2(IGHMBP2):c.1603A>G (p.Ile535Val) (rs140221316)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000733040 SCV000589947 likely benign not provided 2020-06-30 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 32376792)
Invitae RCV001081674 SCV000642315 likely benign Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S 2020-12-04 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000733040 SCV000861054 uncertain significance not provided 2018-05-15 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001172569 SCV001335632 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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