ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.3468-3C>T

gnomAD frequency: 0.01724  dbSNP: rs78192108
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Total submissions: 9
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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 RCV000037042 SCV000060698 benign not specified 2012-04-30 criteria provided, single submitter clinical testing 3468-3C>T in Intron 27 of MYH14: This variant is not expected to have clinical s ignificance because it has been identified in 2.5% (165/6628) of European Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS; dbSNP rs78192108).
Eurofins Ntd Llc (ga) RCV000037042 SCV000228386 benign not specified 2015-02-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000037042 SCV000306864 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000144089 SCV000414421 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 RCV000037042 SCV000730005 benign not specified 2017-11-21 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.
Athena Diagnostics RCV000992390 SCV001144627 benign not provided 2019-03-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000992390 SCV002407677 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000992390 SCV005309777 benign not provided criteria provided, single submitter not provided
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000144089 SCV000189163 untested Autosomal dominant nonsyndromic hearing loss 4A no assertion provided not provided Converted during submission to not provided.

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