ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.4685G>A (p.Arg1562Gln) (rs140118363)

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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 RCV000155169 SCV000204855 benign not specified 2017-10-05 criteria provided, single submitter clinical testing p.Arg1562Gln in Exon 34 of MYH14: This variant is not expected to have clinical significance because it has been identified in 0.6% (116/20972) of African chrom osomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute. org; dbSNP rs140118363).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000155169 SCV000343649 likely benign not specified 2016-08-17 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001132493 SCV001292154 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001285766 SCV001472247 benign none provided 2019-09-12 criteria provided, single submitter clinical testing

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