ClinVar Miner

Submissions for variant NM_023073.3(CPLANE1):c.3828T>C (p.Leu1276=) (rs145520487)

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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 RCV000724250 SCV000227961 uncertain significance not provided 2014-12-17 criteria provided, single submitter clinical testing
UW Hindbrain Malformation Research Program,University of Washington RCV000201620 SCV000256329 likely pathogenic Joubert syndrome 17 2015-02-23 criteria provided, single submitter research
PreventionGenetics,PreventionGenetics RCV000254359 SCV000314186 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000201620 SCV000457403 uncertain significance Joubert syndrome 17 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx RCV000724250 SCV000978009 likely benign not provided 2018-04-11 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 RCV000724250 SCV001021395 benign not provided 2020-11-29 criteria provided, single submitter clinical testing

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