ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.2180A>G (p.Asn727Ser) (rs200654171)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000251050 SCV000316849 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000907337 SCV001052034 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001139250 SCV001299371 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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