ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.1115-4C>T (rs142696359)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037020 SCV000060676 likely benign not specified 2013-02-02 criteria provided, single submitter clinical testing 1115-4C>T in intron 10 of MYH14: This variant is not expected to have clinical s ignificance because it is not located within the splice consensus sequence and i t has been identified in 0.01% (1/8468) of European American chromosomes and 0.0 2% (1/4214) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs142696359) .
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000724551 SCV000225075 uncertain significance not provided 2015-02-02 criteria provided, single submitter clinical testing
Invitae RCV000724551 SCV001023548 benign not provided 2018-05-03 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001136433 SCV001296269 likely benign Deafness, autosomal dominant 4 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.

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