ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.3680+9C>T

gnomAD frequency: 0.20534  dbSNP: rs76579307
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000037043 SCV000060699 benign not specified 2012-04-30 criteria provided, single submitter clinical testing 3680+9C>T in Intron 28 of MYH14: This variant is not expected to have clinical s ignificance because it is not located within the conserved splice consensus sequ ence and has been identified in 21.5% (1419/6596) of European American chromosom es from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs. washington.edu/EVS; dbSNP rs76579307).
Preventiongenetics, part of Exact Sciences RCV000037043 SCV000306865 benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000037043 SCV000339696 benign not specified 2016-05-03 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000261083 SCV000414424 benign Autosomal dominant nonsyndromic hearing loss 4A 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 RCV000037043 SCV000729968 benign not specified 2017-05-09 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV002054629 SCV002410165 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000037043 SCV001925447 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000037043 SCV001951451 benign not specified no assertion criteria provided clinical testing

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