ClinVar Miner

Submissions for variant NM_005592.4(MUSK):c.299C>T (p.Thr100Met)

gnomAD frequency: 0.02176  dbSNP: rs35142681
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000117646 SCV000151878 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000117646 SCV000311136 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000278210 SCV000476617 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.
Invitae RCV000536711 SCV000656585 benign Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 9 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000117646 SCV000713993 benign not specified 2017-05-05 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.
Athena Diagnostics RCV000117646 SCV001475215 benign not specified 2019-12-13 criteria provided, single submitter clinical testing

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