ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.612+12C>A

gnomAD frequency: 0.01713  dbSNP: rs77019529
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000029408 SCV000052056 benign Bardet-Biedl syndrome 2011-08-18 criteria provided, single submitter curation Converted during submission to Benign.
Illumina Laboratory Services, Illumina RCV001094391 SCV000398069 benign Bardet-Biedl syndrome 2 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000709637 SCV000743751 benign Bardet-Biedl syndrome 1 2014-10-21 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000709637 SCV000745156 benign Bardet-Biedl syndrome 1 2015-09-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000029408 SCV001722755 benign Bardet-Biedl syndrome 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001689572 SCV001912103 benign not provided 2021-05-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496444 SCV002811229 benign Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 2021-07-20 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001689572 SCV005292129 benign not provided criteria provided, single submitter not provided

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