ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.4512-5C>T

gnomAD frequency: 0.00005  dbSNP: rs776406996
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001712658 SCV000723997 likely benign not provided 2021-03-13 criteria provided, single submitter clinical testing
Invitae RCV000938413 SCV001084222 likely benign Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2022-04-01 criteria provided, single submitter clinical testing

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