ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.5730T>C (p.Asn1910=)

gnomAD frequency: 0.00001  dbSNP: rs761717557
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000919116 SCV001064451 likely benign Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2022-09-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003432913 SCV004155674 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing RELN: BP4, BP7

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