ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.2207C>T (p.Thr736Ile) (rs139757692)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000407398 SCV000467127 benign Myotonia congenita 2018-01-13 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.
Invitae RCV001089201 SCV000636313 benign Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711228 SCV000841560 benign not provided 2018-08-15 criteria provided, single submitter clinical testing

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