ClinVar Miner

Submissions for variant NM_002180.2(IGHMBP2):c.151C>G (p.Gln51Glu) (rs117061430)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000513582 SCV000608600 uncertain significance not provided 2018-09-30 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000254044 SCV000337956 benign not specified 2015-12-22 criteria provided, single submitter clinical testing
GeneDx RCV000254044 SCV000513265 benign not specified 2016-04-04 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000625146 SCV000743874 likely benign Spinal muscular atrophy, distal, autosomal recessive, 1 2016-03-11 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000352485 SCV000373752 uncertain significance Spinal muscular atrophy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000541315 SCV000642309 benign Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S 2018-01-03 criteria provided, single submitter clinical testing
PreventionGenetics RCV000254044 SCV000308710 likely benign not specified criteria provided, single submitter clinical testing

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