ClinVar Miner

Submissions for variant NM_000166.6(GJB1):c.507C>T (p.Asp169=) (rs373334326)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000285115 SCV000482714 benign X-linked hereditary motor and sensory neuropathy 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.
Invitae RCV001080619 SCV000776756 benign Charcot-Marie-Tooth Neuropathy X 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711357 SCV000841718 benign not provided 2018-01-05 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001174167 SCV001337289 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Inherited Neuropathy Consortium RCV000790236 SCV000929629 benign not specified no assertion criteria provided literature only

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