ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.2334C>T (p.Tyr778=) (rs79656636)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000118725 SCV000314419 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000370868 SCV000417629 likely benign Jeune thoracic dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000276462 SCV000417630 likely benign Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000118725 SCV000517185 benign not specified 2016-11-04 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 RCV000527028 SCV000630971 benign Jeune thoracic dystrophy; Nephronophthisis 2017-12-19 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000118725 SCV000153156 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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