ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.5274G>T (p.Ala1758=)

gnomAD frequency: 0.00010  dbSNP: rs139102992
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000153827 SCV000203408 uncertain significance not provided 2014-01-27 criteria provided, single submitter clinical testing
Invitae RCV001089434 SCV000656314 likely benign Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2024-01-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000153827 SCV004155677 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing RELN: BP4, BP7
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000153827 SCV001928159 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000153827 SCV001975112 likely benign not provided no assertion criteria provided clinical testing

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