ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.8212C>T (p.Arg2738Trp)

gnomAD frequency: 0.00016  dbSNP: rs202166176
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000592476 SCV000703148 uncertain significance not provided 2016-11-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765902 SCV000897322 uncertain significance Epilepsy, familial temporal lobe, 1; Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2021-09-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001207383 SCV001378730 likely benign Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2025-01-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002532408 SCV003683105 uncertain significance Inborn genetic diseases 2022-01-27 criteria provided, single submitter clinical testing Unlikely to be causative of RELN-related lateral temporal epilepsy (AD) Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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