ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.1210+12G>A

gnomAD frequency: 0.00015  dbSNP: rs367560074
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Total submissions: 3
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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 RCV000602268 SCV000711105 likely benign not specified 2017-06-06 criteria provided, single submitter clinical testing 1210+12G>A in Intron 11 of MYH14: This variant is not expected to have clinical significance because it is not located within the conserved splice consensus seq uence. It has been identified in 34/122731 European chromosomes by the Genome A ggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs367560074 ).
Illumina Laboratory Services, Illumina RCV001129447 SCV001288973 uncertain significance 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002532723 SCV002931930 likely benign not provided 2023-11-19 criteria provided, single submitter clinical testing

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