ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.2385G>C (p.Leu795=) (rs80225158)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000082211 SCV000114160 benign not specified 2013-10-10 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000082211 SCV000314401 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000275348 SCV000417627 likely benign Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000311489 SCV000417628 likely benign Jeune thoracic dystrophy 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000082211 SCV000519974 benign not specified 2016-03-08 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 RCV000461313 SCV000563192 benign Jeune thoracic dystrophy; Nephronophthisis 2017-08-10 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000082211 SCV000153157 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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