ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.5085+902C>T (rs114736976)

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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 RCV000150967 SCV000198641 likely benign not specified 2013-07-28 criteria provided, single submitter clinical testing Tyr612Tyr in Exon 32 LOXHD1: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue, is not located within t he splice consensus sequence, and has been identified in 1.2% (6/490) of African chromosomes by the 1000 Genomes Project and 0.2% (3/1384) of African American c hromosomes by the NHLBI Exome sequencing project (http://evs.gs.washington.edu/E VS/; dbSNP rs114736976).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000150967 SCV000855989 likely benign not specified 2017-07-28 criteria provided, single submitter clinical testing

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