ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.5095G>A (p.Glu1699Lys)

gnomAD frequency: 0.00032  dbSNP: rs147657490
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000118153 SCV000152502 uncertain significance not provided 2014-01-23 criteria provided, single submitter clinical testing
Invitae RCV000545650 SCV000656308 likely benign Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2024-02-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765913 SCV000897333 uncertain significance Epilepsy, familial temporal lobe, 1; Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000118153 SCV002008472 uncertain significance not provided 2021-10-18 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
CeGaT Center for Human Genetics Tuebingen RCV000118153 SCV002586185 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing RELN: BP4

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