ClinVar Miner

Submissions for variant NM_002180.2(IGHMBP2):c.855G>A (p.Ala285=) (rs147409148)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000724748 SCV000231646 uncertain significance not provided 2015-04-16 criteria provided, single submitter clinical testing
GeneDx RCV000724748 SCV000717403 likely benign not provided 2020-09-14 criteria provided, single submitter clinical testing
Invitae RCV001088646 SCV001018378 likely benign Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S 2020-08-30 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001174201 SCV001337327 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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