ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.6276C>G (p.Val2092=) (rs141737883)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000150960 SCV000198629 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing Val2092Val in Exon 40 of LOXHD1: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 0.1% (1/702) of Afr ican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs141737883).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726845 SCV000703595 uncertain significance not provided 2016-12-06 criteria provided, single submitter clinical testing

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