ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.4767C>T (p.Arg1589=) (rs80356578)

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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 RCV000041551 SCV000065246 benign not specified 2010-07-26 criteria provided, single submitter clinical testing This variant is not expected to have clinical significance because it does not a lter an amino acid residue, is not located near a splice junction, and is report ed as a benign polymorphism (Varga 2006, Smith 2008).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000041551 SCV000229929 benign not specified 2014-10-16 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000041551 SCV000316864 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000326399 SCV000429599 likely benign Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000041551 SCV000717879 benign not specified 2017-09-26 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 RCV000021065 SCV000041721 benign Deafness, autosomal recessive 9 2011-04-26 no assertion criteria provided curation Converted during submission to Benign.

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