ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.1843C>A (p.Arg615=) (rs112463030)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671454 SCV000796430 likely benign Deafness, autosomal recessive 77 2017-12-14 criteria provided, single submitter clinical testing
GeneDx RCV000155148 SCV000718745 likely benign not specified 2017-12-26 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.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000155148 SCV000204834 benign not specified 2012-04-30 criteria provided, single submitter clinical testing Arg615Arg in Exon 14 of LOXHD1: 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 2.3% (16/702) of Afr ican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs112463030).
PreventionGenetics RCV000155148 SCV000316000 benign not specified criteria provided, single submitter clinical testing

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