ClinVar Miner

Submissions for variant NM_152618.3(BBS12):c.116T>C (p.Ile39Thr) (rs138036823)

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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 RCV000082656 SCV000114698 benign not specified 2013-11-20 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000082656 SCV000246780 likely benign not specified 2015-07-17 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000082656 SCV000316216 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000513736 SCV000558135 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000513736 SCV000610341 likely benign not provided 2017-05-09 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000709646 SCV000743646 benign Bardet-Biedl syndrome 1 2014-12-22 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000626298 SCV000746959 uncertain significance Bardet-Biedl syndrome 12 2017-12-18 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000709646 SCV000745765 likely benign Bardet-Biedl syndrome 1 2017-04-19 no assertion criteria provided clinical testing

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