Submissions for variant NM_005592.4(MUSK):c.1991A>G (p.Asn664Ser)

gnomAD frequency: 0.00777  dbSNP: rs55963442

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000249911	SCV000311131	benign	not specified	2016-04-07	criteria provided, single submitter	clinical testing
GeneDx	RCV000249911	SCV000525183	benign	not specified	2016-06-29	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	RCV000528281	SCV000656573	benign	Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 9	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001168651	SCV001331258	benign	Congenital myasthenic syndrome 9	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Fulgent Genetics, Fulgent Genetics	RCV000528281	SCV002804505	likely benign	Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 9	2022-03-02	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003430806	SCV004158574	benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	MUSK: BS1, BS2