ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.9750C>T (p.Asp3250=)

gnomAD frequency: 0.00003  dbSNP: rs539337691
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000311445 SCV000344602 uncertain significance not provided 2016-09-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001439301 SCV001642186 likely benign Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2024-12-28 criteria provided, single submitter clinical testing

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