ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.4337A>G (p.Asn1446Ser)

gnomAD frequency: 0.00026  dbSNP: rs115577014
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081232 SCV000113140 uncertain significance not provided 2013-04-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000550520 SCV000656297 benign Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2024-01-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764664 SCV000895794 uncertain significance Epilepsy, familial temporal lobe, 1; Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2018-10-31 criteria provided, single submitter clinical testing

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