ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.1413A>C (p.Val471=)

gnomAD frequency: 0.01415  dbSNP: rs35294865
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV000082284 SCV007309214 benign not specified 2023-01-30 criteria provided, single submitter clinical testing BS1, BS2, BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV004704845 SCV005216483 likely benign not provided criteria provided, single submitter not provided
Fulgent Genetics, Fulgent Genetics RCV002498433 SCV002809140 likely benign Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 2022-02-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001533780 SCV001750601 benign Retinitis pigmentosa 74 2021-07-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001094292 SCV001750600 benign Bardet-Biedl syndrome 2 2021-07-01 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000709676 SCV000745155 likely benign Bardet-Biedl syndrome 1 2017-06-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001094292 SCV000398058 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.
PreventionGenetics, part of Exact Sciences RCV000082284 SCV000314808 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000205379 SCV000259776 benign Bardet-Biedl syndrome 2026-02-04 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000082284 SCV000114233 benign not specified 2013-07-30 criteria provided, single submitter clinical testing
Natera, Inc. RCV001094292 SCV001457434 benign Bardet-Biedl syndrome 2 2020-09-16 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000709676 SCV000745823 benign Bardet-Biedl syndrome 1 2017-04-19 no assertion criteria provided clinical testing

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