ClinVar Miner

Submissions for variant NM_001082538.3(TCTN1):c.1234A>G (p.Ile412Val) (rs75714509)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000515106 SCV000609997 likely benign not provided 2017-08-23 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079449 SCV000111328 benign not specified 2013-10-21 criteria provided, single submitter clinical testing
GeneDx RCV000079449 SCV000728832 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 RCV000079449 SCV000195197 likely benign not specified no assertion criteria provided clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000271091 SCV000376281 uncertain significance Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000204466 SCV000260342 benign Joubert syndrome; Meckel-Gruber syndrome 2018-01-05 criteria provided, single submitter clinical testing
PreventionGenetics RCV000079449 SCV000306461 benign not specified criteria provided, single submitter clinical testing

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