ClinVar Miner

Submissions for variant NM_005045.3(RELN):c.1290-3dupT (rs146986040)

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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 RCV000514220 SCV000610967 likely benign not provided 2017-08-29 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081222 SCV000113130 benign not specified 2014-01-17 no assertion criteria provided clinical testing
GeneDx RCV000081222 SCV000581701 benign not specified 2017-12-04 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 RCV000345309 SCV000465984 likely benign Lissencephaly, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000555801 SCV000656260 benign Lissencephaly 2; Epilepsy, familial temporal lobe, 7 2018-01-05 criteria provided, single submitter clinical testing

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