ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.1617G>A (p.Met539Ile) (rs143142227)

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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 RCV000150986 SCV000198672 benign not specified 2016-06-21 criteria provided, single submitter clinical testing p.Met539Ile in exon 12 of LOXHD1: This variant is not expected to have clinical significance because it has been identified in 0.7% (20/2898) of African chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs143142227)
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000150986 SCV000343161 likely benign not specified 2016-08-12 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000385343 SCV000408770 uncertain significance Deafness, autosomal recessive 77 2018-01-13 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.
Invitae RCV000900853 SCV001045196 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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