ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.1695+10G>A

gnomAD frequency: 0.00029  dbSNP: rs200276861
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001094039 SCV000373281 benign Bardet-Biedl syndrome 1 2018-01-12 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV000277522 SCV000563595 benign Bardet-Biedl syndrome 2024-01-30 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001726103 SCV002066249 benign not specified 2017-08-25 criteria provided, single submitter clinical testing
Natera, Inc. RCV001094039 SCV001456344 benign Bardet-Biedl syndrome 1 2020-09-16 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001706454 SCV001932069 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001726103 SCV001966275 benign not specified no assertion criteria provided clinical testing

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