ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.766-3C>T

gnomAD frequency: 0.02560  dbSNP: rs55886964
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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, Mass General Brigham Personalized Medicine RCV000041588 SCV000065283 benign not specified 2008-03-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000041588 SCV000316873 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000041588 SCV000717945 benign not specified 2017-10-26 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.
Illumina Laboratory Services, Illumina RCV001139354 SCV001299492 benign Autosomal recessive nonsyndromic hearing loss 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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Invitae RCV002054831 SCV002407897 benign not provided 2024-02-01 criteria provided, single submitter clinical testing

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