ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.5344C>T (p.Arg1782Cys)

gnomAD frequency: 0.00041  dbSNP: rs138576725
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000177849 SCV000229795 uncertain significance not provided 2015-03-02 criteria provided, single submitter clinical testing
Invitae RCV000700995 SCV000829775 benign Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2024-01-08 criteria provided, single submitter clinical testing
New York Genome Center RCV001420628 SCV001622952 uncertain significance See cases 2020-06-26 criteria provided, single submitter clinical testing

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