ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.8046T>C (p.His2682=) (rs2229864)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081242 SCV000113150 benign not specified 2012-07-03 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000081242 SCV000310801 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000404542 SCV000465922 benign Lissencephaly, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712922 SCV000843477 benign not provided 2018-05-07 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000081242 SCV000152524 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000613774 SCV000734533 benign Lissencephaly 2 no assertion criteria provided clinical testing

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