ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.5127C>T (p.Gly1709=) (rs373924055)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041215 SCV000064906 likely benign not specified 2015-01-28 criteria provided, single submitter clinical testing p.Gly1709Gly in exon 33 of LOXHD1: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wi thin the splice consensus sequence, and has been identified in 0.2% (18/8740) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.bro
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000726427 SCV000344550 uncertain significance not provided 2016-09-02 criteria provided, single submitter clinical testing
Counsyl RCV000666255 SCV000790515 likely benign Deafness, autosomal recessive 77 2017-03-27 criteria provided, single submitter clinical testing
Invitae RCV000726427 SCV001038177 benign not provided 2020-12-06 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000726427 SCV001144454 benign not provided 2019-06-05 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000666255 SCV001282915 uncertain significance Deafness, autosomal recessive 77 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx RCV000726427 SCV001795032 likely benign not provided 2018-10-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV000666255 SCV001455674 benign Deafness, autosomal recessive 77 2020-06-29 no assertion criteria provided clinical testing

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