ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.665A>T (p.Gln222Leu) (rs80026831)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000118730 SCV000231790 benign not specified 2014-09-04 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000118730 SCV000314436 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000386132 SCV000417675 likely benign Jeune thoracic dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000296525 SCV000417676 likely benign Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000118730 SCV000518771 benign not specified 2016-09-20 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 RCV000755417 SCV000563187 benign not provided 2019-03-04 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755417 SCV000605477 benign not provided 2017-09-19 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000118730 SCV000153161 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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