ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.1977G>A (p.Pro659=) (rs145589784)

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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 RCV000041475 SCV000065170 likely benign not specified 2015-08-06 criteria provided, single submitter clinical testing p.Pro659Pro in exon 17 of OTOF: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 11/63686 of Europe an chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinsti tute.org; dbSNP rs145589784).
Illumina Clinical Services Laboratory,Illumina RCV000307006 SCV000429630 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.
Invitae RCV000940783 SCV001086650 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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