ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.1194T>A (p.Asp398Glu)

gnomAD frequency: 0.00011  dbSNP: rs181805996
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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, Mass General Brigham Personalized Medicine RCV000041456 SCV000065151 likely benign not specified 2015-04-13 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
Illumina Laboratory Services, Illumina RCV000056013 SCV001297007 uncertain significance Autosomal recessive nonsyndromic hearing loss 9 2017-10-01 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.
Invitae RCV001852845 SCV002261146 benign not provided 2024-01-28 criteria provided, single submitter clinical testing
GeneReviews RCV000056013 SCV000087073 not provided Autosomal recessive nonsyndromic hearing loss 9 no assertion provided literature only

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