ClinVar Miner

Submissions for variant NM_004086.3(COCH):c.1026C>T (p.Tyr342=)

gnomAD frequency: 0.00173  dbSNP: rs28362777
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000347231 SCV000333399 benign not specified 2015-07-23 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001109987 SCV001267371 benign Autosomal dominant nonsyndromic hearing loss 9 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.
GeneDx RCV001668620 SCV001889893 benign not provided 2020-07-31 criteria provided, single submitter clinical testing
Invitae RCV001668620 SCV002409547 benign not provided 2023-12-06 criteria provided, single submitter clinical testing

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