ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.7887T>C (p.Pro2629=) (rs56345626)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000118171 SCV000310800 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000393435 SCV000465925 benign Lissencephaly, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712920 SCV000843475 benign not provided 2018-05-07 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000118171 SCV000152523 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 RCV000603466 SCV000734534 benign Lissencephaly 2 no assertion criteria provided clinical testing

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