ClinVar Miner

Submissions for variant NM_170784.2(MKKS):c.534C>T (p.Ile178=) (rs17852625)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Ophthalmology and Visual Sciences Kyoto University RCV000132694 SCV000172647 probable-non-pathogenic not provided no assertion criteria provided not provided Converted during submission to Likely benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000177309 SCV000229156 benign not specified 2015-04-06 criteria provided, single submitter clinical testing
GeneDx RCV000177309 SCV000529824 benign not specified 2016-07-07 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 RCV000020861 SCV000041452 benign Bardet-Biedl syndrome 2009-10-13 no assertion criteria provided curation Converted during submission to Benign.
Illumina Clinical Services Laboratory,Illumina RCV000392530 SCV000432769 likely benign McKusick Kaufman syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000020861 SCV000432770 likely benign Bardet-Biedl syndrome 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000177309 SCV000313274 benign not specified criteria provided, single submitter clinical testing

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