ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.2381G>A (p.Arg794His) (rs80356592)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041494 SCV000065189 likely benign not specified 2015-08-06 criteria provided, single submitter clinical testing p.Arg794His in exon 20 of OTOF: This variant is not expected to have clinical si gnificance because it has been identified in 0.2% (71/26210) of European chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs80356592).
Invitae RCV000955909 SCV001102646 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000021047 SCV001135637 likely benign Deafness, autosomal recessive 9 2019-05-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000021047 SCV001296880 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.
GeneReviews RCV000021047 SCV000041701 pathologic Deafness, autosomal recessive 9 2011-04-26 no assertion criteria provided curation Converted during submission to Pathogenic.

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