ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.5285C>T (p.Pro1762Leu) (rs201721812)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193028 SCV000249326 uncertain significance not specified 2015-02-19 criteria provided, single submitter clinical testing
Invitae RCV000905127 SCV001049693 likely benign not provided 2020-11-25 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000905127 SCV001153718 uncertain significance not provided 2018-06-01 criteria provided, single submitter clinical testing
Knight Diagnostic Laboratories, Oregon Health and Sciences University RCV001270042 SCV001448770 likely benign Microcephaly and chorioretinopathy, autosomal recessive, 1 2018-09-13 criteria provided, single submitter clinical testing

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