ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.3468-3C>T (rs78192108)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000037042 SCV000228386 benign not specified 2015-02-09 criteria provided, single submitter clinical testing
GeneDx RCV000037042 SCV000730005 benign not specified 2017-11-21 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.
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000144089 SCV000189163 untested Deafness, autosomal dominant 4 no assertion provided not provided Converted during submission to not provided.
Illumina Clinical Services Laboratory,Illumina RCV000394782 SCV000414421 likely benign Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037042 SCV000060698 benign not specified 2012-04-30 criteria provided, single submitter clinical testing 3468-3C>T in Intron 27 of MYH14: This variant is not expected to have clinical s ignificance because it has been identified in 2.5% (165/6628) of European Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://; dbSNP rs78192108).
PreventionGenetics RCV000037042 SCV000306864 benign not specified criteria provided, single submitter clinical testing

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