ClinVar Miner

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

gnomAD frequency: 0.00777  dbSNP: rs55963442
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.