ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.805-20A>G

gnomAD frequency: 0.00410  dbSNP: rs41280892
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000224448 SCV007542716 likely benign not provided 2026-01-01 criteria provided, single submitter clinical testing BBS2: BS2
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000709638 SCV000743750 likely benign Bardet-Biedl syndrome 1 2015-03-27 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000242904 SCV000705144 benign not specified 2017-01-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001081960 SCV000636528 benign Bardet-Biedl syndrome 2026-02-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000242904 SCV000314815 likely benign not specified criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224448 SCV000281611 uncertain significance not provided 2016-05-16 criteria provided, single submitter clinical testing Converted during submission from Uncertain Significance to Uncertain significance.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000224448 SCV002036333 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000224448 SCV001919897 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000709638 SCV000745824 benign Bardet-Biedl syndrome 1 2017-04-19 no assertion criteria provided clinical testing

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