ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.1653T>A (p.Asn551Lys)

gnomAD frequency: 0.00001  dbSNP: rs1417611613
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001706934 SCV001934527 uncertain significance Familial temporal lobe epilepsy 7 2020-09-16 criteria provided, single submitter clinical testing

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