ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.9725C>T (p.Thr3242Met)

gnomAD frequency: 0.00004  dbSNP: rs763717800
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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) RCV000593958 SCV000701917 uncertain significance not provided 2016-10-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001045861 SCV001209735 likely benign Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2024-10-31 criteria provided, single submitter clinical testing

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