ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.3079C>T (p.Leu1027=)

gnomAD frequency: 0.00210  dbSNP: rs113152264
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins NTD LLC (GA) RCV000375309 SCV000340573 benign not specified 2016-04-07 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000350619 SCV000414414 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.
Laboratory for Molecular Medicine,Mass General Brigham Personalized Medicine RCV000375309 SCV000711106 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing Leu1027Leu in Exon 25 of MYH14: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 0.5% (19/3704) of Af rican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs113152264).
GeneDx RCV001589322 SCV001827057 likely benign not provided 2021-06-22 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27535533)
Invitae RCV001589322 SCV002424805 benign not provided 2021-07-13 criteria provided, single submitter clinical testing

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