Submissions for variant NM_005592.4(MUSK):c.486+7G>C

gnomAD frequency: 0.00128  dbSNP: rs187497836

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000178246	SCV000230290	likely benign	not specified	2017-01-27	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000313416	SCV000476623	likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Genetic Services Laboratory, University of Chicago	RCV000178246	SCV000595869	likely benign	not specified	2016-09-02	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000876088	SCV001018609	benign	Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 9	2024-01-31	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004539664	SCV004771455	likely benign	MUSK-related disorder	2019-07-11	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).