ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.4483C>A (p.Arg1495=) (rs147321712)

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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 RCV000155254 SCV000204940 likely benign not specified 2017-12-14 criteria provided, single submitter clinical testing p.Arg1495Arg in Exon 36 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 0.05% (65/126702) o f African American chromosomes by the Genome Aggregation Database (gnomAD, http: //gnomad.broadinstitute.org/; dbSNP rs147321712).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727471 SCV000708823 uncertain significance not provided 2017-05-26 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001139028 SCV001299134 uncertain significance Deafness, autosomal recessive 9 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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