Submissions for variant NM_000083.3(CLCN1):c.316C>G (p.Leu106Val)

gnomAD frequency: 0.00313  dbSNP: rs145517198

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000318718	SCV000467100	benign	Batten-Turner congenital myopathy	2018-01-12	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000548708	SCV000636328	benign	Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form	2024-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV001718774	SCV000728111	likely benign	not provided	2021-03-24	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001718774	SCV005226858	likely benign	not provided		criteria provided, single submitter	not provided