Submissions for variant NM_000080.4(CHRNE):c.710G>T (p.Arg237Leu)

gnomAD frequency: 0.00010  dbSNP: rs201434993

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000033235	SCV001018719	likely benign	Congenital myasthenic syndrome 4A	2024-01-24	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000876183	SCV001151160	uncertain significance	not provided	2018-03-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001128140	SCV001287548	uncertain significance	Congenital myasthenic syndrome	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. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
New York Genome Center	RCV001836721	SCV002097985	uncertain significance	Congenital myasthenic syndrome 4A; Congenital myasthenic syndrome 4C; Congenital myasthenic syndrome 4B	2020-06-05	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000876183	SCV003830608	uncertain significance	not provided	2022-02-07	criteria provided, single submitter	clinical testing
OMIM	RCV000033235	SCV000057091	pathogenic	Congenital myasthenic syndrome 4A	2018-11-07	no assertion criteria provided	literature only
Natera, Inc.	RCV001128140	SCV001463215	likely benign	Congenital myasthenic syndrome	2020-05-05	no assertion criteria provided	clinical testing