ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.3079C>T (p.Leu1027=) (rs113152264)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000375309 SCV000340573 benign not specified 2016-04-07 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000350619 SCV000414414 likely benign Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare 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).

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