ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.2827C>T (p.His943Tyr)

gnomAD frequency: 0.00028  dbSNP: rs190615928
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000653049 SCV000774923 likely benign Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2024-11-21 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001289167 SCV001476810 likely benign not provided 2020-03-18 criteria provided, single submitter clinical testing

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