ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.-42T>G

gnomAD frequency: 0.07623  dbSNP: rs78076550
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000253850 SCV000314806 likely benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000308331 SCV000398080 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-Nilou Lab RCV000308331 SCV001737393 benign Bardet-Biedl syndrome 2 2021-06-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001526786 SCV001737394 benign Retinitis pigmentosa 74 2021-06-10 criteria provided, single submitter clinical testing
GeneDx RCV001711735 SCV001942252 benign not provided 2021-05-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001711735 SCV005216491 likely benign not provided criteria provided, single submitter not provided

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