ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.4023+1G>A (rs186810296)

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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 RCV000041538 SCV000065233 uncertain significance not specified 2021-04-07 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000490336 SCV000267430 pathogenic Deafness, autosomal recessive 9 2016-03-18 criteria provided, single submitter reference population
Invitae RCV000897451 SCV001041596 benign not provided 2018-03-30 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000490336 SCV001302002 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.
GeneDx RCV000897451 SCV001825083 likely benign not provided 2019-11-29 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 33095980, 31130284, 31980526, 31581539, 30096381, 30245029, 26818607, 25262649, 26434960, 21935370, 31095577)

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