ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.1290-3dup

dbSNP: rs146986040
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000345309 SCV000465984 likely benign Lissencephaly, Recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000514220 SCV000581701 benign not provided 2018-06-01 criteria provided, single submitter clinical testing
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
Invitae RCV001081577 SCV000656260 benign Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2024-02-01 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000081222 SCV000113130 benign not specified 2014-01-17 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000514220 SCV001917341 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000081222 SCV001971217 benign not specified no assertion criteria provided clinical testing

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