ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.9933C>T (p.Gly3311=)

gnomAD frequency: 0.00002  dbSNP: rs532153046
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002539707 SCV003297205 likely benign Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2023-07-14 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702306 SCV001931034 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001702306 SCV001964961 likely benign not provided no assertion criteria provided clinical testing

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