Submissions for variant NM_000083.3(CLCN1):c.900G>A (p.Arg300=)

gnomAD frequency: 0.00022  dbSNP: rs149578972

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000439162	SCV000533371	likely benign	not specified	2016-11-14	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	RCV000638259	SCV000759746	likely benign	Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form	2024-01-30	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001158440	SCV001320081	benign	Batten-Turner congenital myopathy	2017-07-07	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). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Athena Diagnostics Inc	RCV000439162	SCV001880315	likely benign	not specified	2021-04-16	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003959989	SCV004769313	likely benign	CLCN1-related condition	2019-04-12	criteria provided, single submitter	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).