ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.8950+16G>A

gnomAD frequency: 0.01546  dbSNP: rs76565991
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001683609 SCV001897684 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002066917 SCV002487507 benign Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2025-01-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001683609 SCV005270531 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000607120 SCV000734529 benign Norman-Roberts syndrome no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001700248 SCV001920938 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001700248 SCV001966420 benign not specified no assertion criteria provided clinical testing

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