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: 5
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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
Labcorp Genetics (formerly Invitae), Labcorp 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
Ambry Genetics RCV004020122 SCV004939017 likely benign Inborn genetic diseases 2024-06-14 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
New York Genome Center RCV001255059 SCV001431150 uncertain significance Seizure 2020-01-24 no assertion criteria provided clinical testing

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