ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.408G>C (p.Leu136=)

gnomAD frequency: 0.00001  dbSNP: rs1554427416
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000499645 SCV000596751 uncertain significance not specified 2015-10-22 criteria provided, single submitter clinical testing
Invitae RCV000653053 SCV000774927 likely benign Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2023-09-01 criteria provided, single submitter clinical testing

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