ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.795A>G (p.Gln265=)

gnomAD frequency: 0.00003  dbSNP: rs749580328
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000195276 SCV000248713 uncertain significance not specified 2014-11-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001243948 SCV001417140 likely benign Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2023-10-13 criteria provided, single submitter clinical testing

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