ClinVar Miner

Submissions for variant NM_152618.3(BBS12):c.1398C>T (p.Gly466=)

gnomAD frequency: 0.13826  dbSNP: rs2292493
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000254351 SCV000316223 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001094945 SCV000447422 benign Bardet-Biedl syndrome 12 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000398466 SCV001000001 benign Bardet-Biedl syndrome 2024-02-01 criteria provided, single submitter clinical testing
Pars Genome Lab RCV001094945 SCV001738583 benign Bardet-Biedl syndrome 12 2021-06-15 criteria provided, single submitter clinical testing
GeneDx RCV001533833 SCV001750700 benign not provided 2018-11-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001533833 SCV005302734 benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001094945 SCV001462021 benign Bardet-Biedl syndrome 12 2020-09-16 no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000254351 SCV001956479 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000254351 SCV001974096 benign not specified no assertion criteria provided clinical testing

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