Submissions for variant NM_000083.3(CLCN1):c.2284+5C>T

gnomAD frequency: 0.01735  dbSNP: rs74824159

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000238941	SCV000296867	benign	not specified	2015-11-06	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000407412	SCV000467130	benign	Batten-Turner congenital myopathy	2018-03-06	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx	RCV001705317	SCV000519373	benign	not provided	2019-05-17	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 24349310, 23739125, 11840191, 24452722, 15786415, 21221019, 22094069, 23152584, 12196568, 27614575, 27884173, 28427807, 15311340, 32117024)
Athena Diagnostics	RCV000238941	SCV000612778	benign	not specified	2017-07-25	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000545584	SCV000636316	benign	Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form	2024-02-01	criteria provided, single submitter	clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana	RCV001199130	SCV001370125	uncertain significance	Congenital myotonia, autosomal recessive form	2016-01-01	criteria provided, single submitter	clinical testing	This variant was classified as: Uncertain significance. The following ACMG criteria were applied in classifying this variant: BP4.
CeGaT Center for Human Genetics Tuebingen	RCV001705317	SCV002545573	benign	not provided	2024-03-01	criteria provided, single submitter	clinical testing	CLCN1: BP4, BS1, BS2
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000238941	SCV001929677	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000238941	SCV001955356	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001705317	SCV002036465	likely benign	not provided		no assertion criteria provided	clinical testing