ClinVar Miner

Submissions for variant NM_173660.5(DOK7):c.134C>T (p.Ser45Leu) (rs62272670)

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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 RCV000251040 SCV000229281 likely benign not specified 2018-05-02 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000177425 SCV000281424 benign not provided 2015-04-13 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000251040 SCV000316520 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000251040 SCV000521293 likely benign not specified 2018-01-12 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.
Invitae RCV000177425 SCV000640950 benign not provided 2019-03-04 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000177425 SCV000693142 likely benign not provided 2018-09-30 criteria provided, single submitter clinical testing

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