ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.8154A>T (p.Thr2718=)

dbSNP: rs1554367205
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000518296 SCV000614880 uncertain significance not specified 2017-03-08 criteria provided, single submitter clinical testing
Invitae RCV001448317 SCV001651404 likely benign Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2021-10-13 criteria provided, single submitter clinical testing

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