ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.3247G>C (p.Ala1083Pro) (rs80356574)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041520 SCV000065215 benign not specified 2010-10-06 criteria provided, single submitter clinical testing Ala1083Pro in exon 26 of OTOF: This variant is not expected to have clinical sig nificance because this residue is not highly conserved across species and this v ariant has been reported as benign in two publications (Varga 2006, Rodriguez-Ba llesteros 2008).
GeneDx RCV000992478 SCV000717015 benign not provided 2018-08-23 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 16371502, 18381613, 20301429)
Athena Diagnostics Inc RCV000992478 SCV001144820 benign not provided 2018-08-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000021056 SCV001296765 benign 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. 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.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001286415 SCV001472980 benign none provided 2020-01-29 criteria provided, single submitter clinical testing
GeneReviews RCV000021056 SCV000041711 benign Deafness, autosomal recessive 9 2011-04-26 no assertion criteria provided curation Converted during submission to Benign.

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