ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.3999C>T (p.Cys1333=) (rs117297079)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041208 SCV000064899 benign not specified 2012-05-07 criteria provided, single submitter clinical testing "Cys1333Cys in Exon 26 of LOXHD1: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence, and has been identified in 1.0% (26/2532) of European American chromosomes from a broad population by the NHLBI Exome Sequenc ing Project (http://evs.gs.washington.edu/EVS; dbSNP rs117297079)."
GeneDx RCV000041208 SCV000718759 likely benign not specified 2018-01-23 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 RCV000966053 SCV001113340 benign not provided 2019-03-05 criteria provided, single submitter clinical testing

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