ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.5848G>A (p.Glu1950Lys) (rs79045813)

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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 RCV000155141 SCV000204827 benign not specified 2017-10-05 criteria provided, single submitter clinical testing p.Glu1950Lys in exon 37 of LOXHD1: This variant is not expected to have clinical significance because it has been identified in 1.2% (204/16356) of African chro mosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute .org; dbSNP rs79045813). ACMG/AMP Criteria applied: BS1, BP4 (Richards 2015)
Invitae RCV000971432 SCV001119081 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000971432 SCV001144457 likely benign not provided 2018-11-26 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001126580 SCV001285800 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.

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