ClinVar Miner

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

gnomAD frequency: 0.01896  dbSNP: rs36064831
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
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.
Invitae RCV000205119 SCV000262469 benign Familial aplasia of the vermis 2024-01-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000117274 SCV000313445 benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000117274 SCV000337740 benign not specified 2015-11-13 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001095326 SCV000478773 likely benign Joubert syndrome 1 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
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.
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000117274 SCV001931878 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727573 SCV001975752 likely benign not provided no assertion criteria provided clinical testing

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