ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.6084C>T (p.Gly2028=) (rs114019779)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081237 SCV000113145 benign not specified 2013-08-07 criteria provided, single submitter clinical testing
GeneDx RCV000081237 SCV000171348 benign not specified 2014-03-19 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.
Illumina Clinical Services Laboratory,Illumina RCV000288980 SCV000465940 uncertain significance Lissencephaly, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000081237 SCV000596742 likely benign not specified 2016-01-06 criteria provided, single submitter clinical testing
Invitae RCV000659083 SCV000656330 benign not provided 2019-03-03 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000659083 SCV000780892 likely benign not provided 2018-01-01 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000608429 SCV000734535 likely benign Lissencephaly 2 no assertion criteria provided clinical testing

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