ClinVar Miner

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

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Total submissions: 9
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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 benign not specified 2018-09-04 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000082656 SCV000316216 benign not specified criteria provided, single submitter clinical testing
Invitae RCV001080843 SCV000558135 benign Bardet-Biedl syndrome 2019-12-31 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
Illumina Clinical Services Laboratory,Illumina RCV000626298 SCV001305522 likely benign Bardet-Biedl syndrome 12 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
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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