ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.2317C>T (p.Arg773Cys) (rs80356569)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041489 SCV000065184 benign not specified 2009-07-20 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000041489 SCV000316851 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000992471 SCV000713860 benign not provided 2018-07-19 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 22607986, 12114484, 16371502, 19461658)
Athena Diagnostics Inc RCV000992471 SCV001144813 benign not provided 2019-08-05 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000021045 SCV001299369 likely 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 determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneReviews RCV000021045 SCV000041699 benign Deafness, autosomal recessive 9 2011-04-26 no assertion criteria provided curation Converted during submission to Benign.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000992471 SCV001797900 likely benign not provided no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000041489 SCV001953569 benign not specified no assertion criteria provided clinical testing

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