ClinVar Miner

Submissions for variant NM_001082538.3(TCTN1):c.220+12G>C (rs76843552)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000147734 SCV000306466 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000334707 SCV000376271 likely benign Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000513867 SCV000610327 likely benign not provided 2017-08-23 criteria provided, single submitter clinical testing
GeneDx RCV000147734 SCV000728831 benign not specified 2017-06-05 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.
Genetic Services Laboratory, University of Chicago RCV000147734 SCV000195200 likely benign not specified no assertion criteria provided clinical testing

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