ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.3519T>C (p.Thr1173=) (rs115504901)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000118727 SCV000314430 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000265879 SCV000417607 likely benign Jeune thoracic dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000328253 SCV000417608 likely benign Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000118727 SCV000516362 benign not specified 2016-02-19 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 RCV000476537 SCV000563194 benign Jeune thoracic dystrophy; Nephronophthisis 2017-07-11 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756831 SCV000884761 benign not provided 2017-05-25 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000118727 SCV000153159 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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