ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.4996T>C (p.Leu1666=) (rs199854846)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000155986 SCV000205698 likely benign not specified 2013-09-07 criteria provided, single submitter clinical testing Leu1666Leu in Exon 40 of OTOF: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and it is not located within the splice consensus sequence. This variant has been identified in 0.08% (1/1254) of European chromosomes by the ClinSeq Agilent Project (CSAgilent; dbSN P rs199854846).
Invitae RCV000922428 SCV001067858 benign not provided 2018-06-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001143363 SCV001303884 uncertain significance Deafness, autosomal recessive 9 2018-03-30 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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