ClinVar Miner

Submissions for variant NM_019892.6(INPP5E):c.603C>G (p.Ile201Met) (rs36064831)

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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 RCV000117274 SCV000337740 benign not specified 2015-11-13 criteria provided, single submitter clinical testing
GeneDx RCV000117274 SCV000168873 benign not specified 2014-04-15 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 RCV000117274 SCV000151448 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 RCV000205119 SCV000478773 likely benign Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000205119 SCV000262469 benign Joubert syndrome 2017-08-07 criteria provided, single submitter clinical testing
PreventionGenetics RCV000117274 SCV000313445 benign not specified criteria provided, single submitter clinical testing

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