ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.3147-15C>T

gnomAD frequency: 0.00001  dbSNP: rs773147896
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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 RCV002217714 SCV002373567 likely benign Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2023-12-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498255 SCV002804660 likely benign Epilepsy, familial temporal lobe, 1; Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2022-05-16 criteria provided, single submitter clinical testing

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