ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.26A>C (p.Gln9Pro) (rs115165703)

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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 RCV000081229 SCV000113137 benign not specified 2014-03-03 criteria provided, single submitter clinical testing
GeneDx RCV000081229 SCV000171354 benign not specified 2014-01-30 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
PreventionGenetics,PreventionGenetics RCV000081229 SCV000310787 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000264190 SCV000465997 likely benign Lissencephaly, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000549962 SCV000656274 benign not provided 2019-02-27 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000081229 SCV000152493 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.

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