ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.7180+8T>C

gnomAD frequency: 0.00001  dbSNP: rs1022021889
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000546980 SCV000656351 likely benign Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2023-07-09 criteria provided, single submitter clinical testing

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