ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.710+10C>T (rs55639868)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041587 SCV000065282 benign not specified 2012-03-20 criteria provided, single submitter clinical testing 710+10C>T in exon 7 of OTOF: This variant is not expected to have clinical signi ficance because it is not located within the splice consensus sequence, has been identified in 1.4% (96/7020) of European American chromosomes and 0.2% (8/3738) of African American chromosomes in a broad population by the NHLBI Exome sequen cing project (; dbSNP rs55639868).
PreventionGenetics,PreventionGenetics RCV000041587 SCV000316872 benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000041587 SCV000604580 benign not specified 2018-07-31 criteria provided, single submitter clinical testing
GeneDx RCV000041587 SCV000717920 likely benign not specified 2017-12-08 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Athena Diagnostics Inc RCV000992482 SCV001144828 benign not provided 2019-02-27 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001141973 SCV001302361 uncertain significance Deafness, autosomal recessive 9 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.

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