ClinVar Miner

Submissions for variant NM_019892.6(INPP5E):c.531C>A (p.Ala177=) (rs58206296)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000117273 SCV000518206 benign not specified 2015-07-30 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.
Genetic Services Laboratory, University of Chicago RCV000117273 SCV000151447 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.
Illumina Clinical Services Laboratory,Illumina RCV000270307 SCV000478775 likely benign Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000270307 SCV000560631 benign Joubert syndrome 2017-12-05 criteria provided, single submitter clinical testing
PreventionGenetics RCV000117273 SCV000313444 benign not specified criteria provided, single submitter clinical testing

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