ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.6278A>C (p.His2093Pro)

gnomAD frequency: 0.00024  dbSNP: rs149152189
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000178468 SCV000230551 uncertain significance not provided 2016-07-19 criteria provided, single submitter clinical testing
Invitae RCV000653018 SCV000774892 benign Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV000178468 SCV002064180 uncertain significance not provided 2022-01-20 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
New York Genome Center RCV001255059 SCV001431150 uncertain significance Seizure 2020-01-24 no assertion criteria provided clinical testing

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