ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.1797-9C>T

gnomAD frequency: 0.00913  dbSNP: rs41276057
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000326736 SCV000467120 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.
GeneDx RCV000443936 SCV000522703 benign not specified 2016-02-03 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000549398 SCV000636305 benign Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2024-02-01 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000443936 SCV001879923 benign not specified 2021-04-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004712363 SCV005272707 benign not provided criteria provided, single submitter not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000443936 SCV001797418 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000443936 SCV001956596 benign not specified no assertion criteria provided clinical testing

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