ClinVar Miner

Submissions for variant NM_017777.3(MKS1):c.1436G>A (p.Arg479His) (rs111315726)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224657 SCV000281253 uncertain significance not provided 2015-06-04 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
GeneDx RCV000193368 SCV000513614 likely benign not specified 2017-06-01 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.
Genetic Services Laboratory, University of Chicago RCV000193368 SCV000248050 likely benign not specified 2015-06-04 criteria provided, single submitter clinical testing
Invitae RCV000204147 SCV000260361 benign Joubert syndrome; Meckel-Gruber syndrome 2017-09-20 criteria provided, single submitter clinical testing
PreventionGenetics RCV000193368 SCV000312930 benign not specified criteria provided, single submitter clinical testing

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