ClinVar Miner

Submissions for variant NM_176824.3(BBS7):c.1512-7A>T

gnomAD frequency: 0.00545  dbSNP: rs115987385
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000152844 SCV000202240 benign not specified 2014-04-29 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000709648 SCV000743644 benign Bardet-Biedl syndrome 1 2014-12-16 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000709648 SCV000744972 likely benign Bardet-Biedl syndrome 1 2015-08-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000625061 SCV000759888 benign Bardet-Biedl syndrome 2025-02-03 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001150900 SCV001311995 benign Bardet-Biedl syndrome 7 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.
Genetic Services Laboratory, University of Chicago RCV000152844 SCV002071099 benign not specified 2021-12-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001150900 SCV002799460 likely benign Bardet-Biedl syndrome 7 2022-05-12 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004710557 SCV005256128 likely benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000709648 SCV000745764 benign Bardet-Biedl syndrome 1 2017-04-19 no assertion criteria provided clinical testing

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