ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.2512C>T (p.Leu838=) (rs146139327)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041502 SCV000065197 benign not specified 2016-06-21 criteria provided, single submitter clinical testing p.Leu838Leu in exon 21 of OTOF: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located near a splice junction and it has been identified in 0.6% (86/14302) of South Asian c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org; dbSNP rs146139327).
GeneDx RCV000041502 SCV000718732 likely benign not specified 2017-11-01 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.
Invitae RCV000914398 SCV001059572 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001136994 SCV001296876 uncertain significance Deafness, autosomal recessive 9 2017-04-28 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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