ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.2816_2818AGA[3] (p.Lys942del) (rs142960762)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665928 SCV000790137 likely benign Deafness, autosomal recessive 77 2017-03-06 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000218465 SCV000862519 benign not specified 2018-08-07 criteria provided, single submitter clinical testing
GeneDx RCV000218465 SCV000714445 benign not specified 2017-09-22 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 RCV000218465 SCV000269228 benign not specified 2015-04-24 criteria provided, single submitter clinical testing p.Lys942del in exon 19 of LOXHD1: This variant is not expected to have clinical significance because it has been identified in 4.1% (327/7914) of South Asian ch romosomes, including 15 homozygotes, by the Exome Aggregation Consortium (ExAC,; dbSNP rs142960762).
PreventionGenetics RCV000218465 SCV000316004 benign not specified criteria provided, single submitter clinical testing

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