ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.192G>T (p.Gly64=)

dbSNP: rs181055215
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Total submissions: 11
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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 RCV000037028 SCV000060684 benign not specified 2016-01-14 criteria provided, single submitter clinical testing p.Gly64Gly in exon 02 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 0.8% (126/14052) of European American chromosomes from a broad population by the Exome Aggregation C onsortium (ExAC, http://exac.broadinstitute.org; dbSNP rs181055215).
Eurofins Ntd Llc (ga) RCV000037028 SCV000227525 benign not specified 2014-12-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000037028 SCV000306855 likely benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000333085 SCV000414368 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 RCV000955567 SCV000714938 likely benign not provided 2020-11-19 criteria provided, single submitter clinical testing
Invitae RCV000955567 SCV001102280 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000955567 SCV001144622 benign not provided 2018-11-05 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000955567 SCV002049352 benign not provided 2021-03-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000955567 SCV004140499 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing MYH14: BP4, BP7
Clinical Genetics, Academic Medical Center RCV000037028 SCV001922885 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000037028 SCV001974997 benign not specified no assertion criteria provided clinical testing

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