ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.1386C>T (p.Cys462=) (rs139321058)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000724476 SCV000225621 uncertain significance not provided 2015-02-13 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000174338 SCV000596747 likely benign not specified 2017-01-13 criteria provided, single submitter clinical testing
Invitae RCV001078471 SCV001092145 likely benign Norman-Roberts syndrome; Epilepsy, familial temporal lobe, 7 2019-12-31 criteria provided, single submitter clinical testing

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