ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.10310T>C (p.Met3437Thr)

gnomAD frequency: 0.00007  dbSNP: rs377638585
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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) RCV000179653 SCV000231935 uncertain significance not provided 2014-11-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765900 SCV000897320 uncertain significance Epilepsy, familial temporal lobe, 1; Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV001039166 SCV001202680 likely benign Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2023-06-18 criteria provided, single submitter clinical testing

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