ClinVar Miner

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

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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 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 RCV000041489 SCV000713860 likely benign not specified 2017-11-27 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.
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.

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