ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.826A>G (p.Ile276Val) (rs55645295)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000155161 SCV000204847 benign not specified 2012-04-30 criteria provided, single submitter clinical testing Ile276Val in Exon 08 of MYH14: This variant is not expected to have clinical sig nificance because it has been identified in 1.3% (48/3738) of African American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS; dbSNP rs55645295).
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000513846 SCV000610694 likely benign not provided 2017-04-11 criteria provided, single submitter clinical testing
GeneDx RCV000155161 SCV000716488 likely benign not specified 2017-12-04 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.
Invitae RCV000513846 SCV001116835 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001285991 SCV001472506 benign none provided 2020-04-17 criteria provided, single submitter clinical testing

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