ClinVar Miner

Submissions for variant NM_004086.3(COCH):c.629+5C>T (rs202109231)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Hearing Loss Variant Curation Expert Panel RCV000787991 SCV000927019 benign Nonsyndromic hearing loss and deafness 2019-02-25 reviewed by expert panel curation The filtering allele frequency of the c.629+5C>T variant in the COCH gene is 0.1% for European chromosomes by gnomAD (162/126474 with 95% CI), which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen Hearing Loss Expert Panel for autosomal dominant hearing loss variants (BA1).
Eurofins NTD, LLC RCV000348668 SCV000333087 likely benign not specified 2015-07-30 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000273489 SCV000386500 likely benign Deafness, autosomal dominant 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000348668 SCV000710998 benign not specified 2018-08-30 criteria provided, single submitter clinical testing The c.629+5C>T variant in COCH is classified as benign because it has been ident ified in 0.13% (162/126474) of European chromosomes by gnomAD (http://gnomad.bro adinstitute.org). In addition, this variant is located in the 5' splice region, and computational tools do not suggest an impact to splicing. ACMG/AMP Criteria applied: BA1, BP4.
Invitae RCV000952722 SCV001099244 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000952722 SCV001787469 likely benign not provided 2020-09-17 criteria provided, single submitter clinical testing

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