ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.3749C>A (p.Ala1250Glu) (rs11669191)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000037044 SCV000060700 benign not specified 2012-05-07 criteria provided, single submitter clinical testing Ala1250Glu in Exon 29 of MYH14: This variant is not expected to have clinical si gnificance because it has been identified in 3.0% (209/6938) of European America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs11669191).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000037044 SCV000340969 benign not specified 2016-04-12 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000357017 SCV000414426 benign Deafness, autosomal dominant 4 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 RCV000037044 SCV000729969 benign not specified 2017-12-06 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000037044 SCV000884179 benign not specified 2018-07-25 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000756384 SCV001144628 benign not provided 2018-12-07 criteria provided, single submitter clinical testing

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