ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.177G>A (p.Thr59=) (rs116413527)

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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 RCV000150995 SCV000198683 benign not specified 2017-07-05 criteria provided, single submitter clinical testing p.Thr59Thr in Exon 2 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 0.3% (64/16468) of A frican chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.bro; dbSNP rs116413527).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725959 SCV000340858 uncertain significance not provided 2016-05-04 criteria provided, single submitter clinical testing
GeneDx RCV000150995 SCV000725925 likely benign not specified 2017-12-14 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 RCV000725959 SCV001038880 benign not provided 2019-02-26 criteria provided, single submitter clinical testing

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