ClinVar Miner

Submissions for variant NM_005592.4(MUSK):c.402G>A (p.Glu134=)

gnomAD frequency: 0.16445  dbSNP: rs10980531
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000117647 SCV000151879 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000117647 SCV000311140 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000348451 SCV000476621 benign Congenital myasthenic syndrome 9 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV000117647 SCV000519511 benign not specified 2016-05-27 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.
Invitae RCV001521669 SCV001731050 benign Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 9 2024-02-01 criteria provided, single submitter clinical testing

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