ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.2284+5C>T (rs74824159)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000238941 SCV000296867 benign not specified 2015-11-06 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000407412 SCV000467130 benign Myotonia congenita 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 RCV000238941 SCV000519373 likely benign not specified 2017-10-12 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.
Athena Diagnostics Inc RCV000238941 SCV000612778 benign not specified 2017-07-25 criteria provided, single submitter clinical testing
Invitae RCV000545584 SCV000636316 benign Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2019-12-31 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001199130 SCV001370125 uncertain significance Myotonia; EMG: myotonic runs; Myotonia with warm-up phenomenon; Percussion myotonia; Handgrip myotonia; Cold-sensitive myotonia 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PM2,PP1,PP3,PP4. This variant was detected in heterozygous state.

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