ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.2580C>G (p.Val860=) (rs2272069)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000041505 SCV000227973 benign not specified 2016-06-07 criteria provided, single submitter clinical testing
GeneDx RCV000041505 SCV000717088 benign not specified 2017-05-09 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.
GeneReviews RCV000021050 SCV000041705 benign Deafness, autosomal recessive 9 2011-04-26 no assertion criteria provided curation Converted during submission to Benign.
Illumina Clinical Services Laboratory,Illumina RCV000282616 SCV000429621 likely benign Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041505 SCV000065200 benign not specified 2007-03-02 criteria provided, single submitter clinical testing
PreventionGenetics RCV000041505 SCV000316854 benign not specified criteria provided, single submitter clinical testing

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