ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.5742G>A (p.Leu1914=) (rs141235641)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041583 SCV000065278 benign not specified 2017-07-05 criteria provided, single submitter clinical testing p.Leu1914Leu in exon 45 of OTOF: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 0.3% (409/126530) o f European chromosomes including 2 homozygotes by the genome Aggregation Databas e (gnomAD,; dbSNP rs141235641).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000726555 SCV000345476 uncertain significance not provided 2016-09-12 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000394563 SCV000429589 uncertain significance Deafness, autosomal recessive 9 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 RCV000726555 SCV000727759 likely benign not provided 2021-05-12 criteria provided, single submitter clinical testing
Invitae RCV000726555 SCV001101981 benign not provided 2018-07-20 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000726555 SCV001144827 benign not provided 2019-06-05 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000726555 SCV001152195 uncertain significance not provided 2016-09-01 criteria provided, single submitter clinical testing

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