ClinVar Miner

Submissions for variant NM_002180.2(IGHMBP2):c.165G>C (p.Gln55His) (rs201692151)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489846 SCV000577545 likely benign not provided 2021-02-22 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25025039, 32376792)
Invitae RCV001083586 SCV000642316 likely benign Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S 2020-11-20 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000489846 SCV001148357 uncertain significance not provided 2017-01-01 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173342 SCV001336430 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000489846 SCV001716100 uncertain significance not provided 2020-12-18 criteria provided, single submitter clinical testing

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