ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.192G>T (p.Gly64=) (rs181055215)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000037028 SCV000227525 benign not specified 2014-12-19 criteria provided, single submitter clinical testing
GeneDx RCV000037028 SCV000714938 likely benign not specified 2017-10-26 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.
Illumina Clinical Services Laboratory,Illumina RCV000333085 SCV000414368 likely benign Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare 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).
PreventionGenetics RCV000037028 SCV000306855 likely benign not specified criteria provided, single submitter clinical testing

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