ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.966G>C (p.Gly322=) (rs114082868)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000155369 SCV000205056 benign not specified 2012-05-07 criteria provided, single submitter clinical testing "Gly322Gly in Exon 08 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 6.3% (44/702) of Af rican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs114082868)."
PreventionGenetics,PreventionGenetics RCV000155369 SCV000316021 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000155369 SCV000717954 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.
Invitae RCV000969699 SCV001117228 benign not provided 2019-03-05 criteria provided, single submitter clinical testing

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