ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.2370C>T (p.Asp790=) (rs34723936)

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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 RCV000155368 SCV000205055 benign not specified 2012-05-07 criteria provided, single submitter clinical testing "Asp790Asp in Exon 17 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 4.0% (28/702) of Af rican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs34723936)."
PreventionGenetics,PreventionGenetics RCV000155368 SCV000316002 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000390592 SCV000408756 uncertain significance Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000155368 SCV000718119 benign not specified 2017-12-18 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.
Athena Diagnostics Inc RCV000712229 SCV000842673 benign not provided 2018-05-23 criteria provided, single submitter clinical testing

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