ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.1746G>T (p.Thr582=)

gnomAD frequency: 0.00006  dbSNP: rs138532222
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000977580 SCV001125499 likely benign Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2023-11-02 criteria provided, single submitter clinical testing

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