ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.1480A>G (p.Ile494Val)

gnomAD frequency: 0.00001  dbSNP: rs372015884
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001239703 SCV001412596 likely benign Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2022-12-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002484310 SCV002783468 uncertain significance Epilepsy, familial temporal lobe, 1; Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2022-03-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003883585 SCV004701795 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing RELN: BP4

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