ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.5678+12C>T

gnomAD frequency: 0.78229  dbSNP: rs3826772
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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 RCV000220220 SCV000269280 benign not specified 2012-05-07 criteria provided, single submitter clinical testing 5678+12C>T in Intron 40 of MYH14: This variant is not expected to have clinical significance because it is not located within the conserved splice consensus seq uence and has been identified in 33.3% (1157/3478) of African American chromosom es from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs. washington.edu/EVS; dbSNP rs3826772).
PreventionGenetics, part of Exact Sciences RCV000220220 SCV000306877 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000338666 SCV000414457 benign Autosomal dominant nonsyndromic hearing loss 4A 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.
GeneDx RCV001722148 SCV001949193 benign not provided 2018-06-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001775675 SCV002014419 benign Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000338666 SCV002014421 benign Autosomal dominant nonsyndromic hearing loss 4A 2021-09-05 criteria provided, single submitter clinical testing
Invitae RCV001722148 SCV002398856 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000220220 SCV001918356 benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000220220 SCV001963560 benign not specified no assertion criteria provided clinical testing

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