ClinVar Miner

Submissions for variant NM_001145308.4(LRTOMT):c.-52G>C (rs149637884)

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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 RCV000222480 SCV000269232 benign not specified 2012-04-30 criteria provided, single submitter clinical testing Gly118Arg in Exon 05 of LRTOMT: This variant is not expected to have clinical si gnificance because it has been identified in 0.6% (43/7020) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs149637884).
Illumina Clinical Services Laboratory,Illumina RCV001001896 SCV000373959 uncertain significance Deafness, autosomal recessive 63 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.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001001896 SCV001159641 benign Deafness, autosomal recessive 63 2019-02-25 criteria provided, single submitter clinical testing
GeneDx RCV001551008 SCV001771423 likely benign not provided 2018-07-23 criteria provided, single submitter clinical testing

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