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

gnomAD frequency: 0.00423  dbSNP: rs41280892

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
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 to Uncertain significance.
PreventionGenetics, part of Exact Sciences	RCV000242904	SCV000314815	likely benign	not specified		criteria provided, single submitter	clinical testing
Invitae	RCV001081960	SCV000636528	benign	Bardet-Biedl syndrome	2024-01-31	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000242904	SCV000705144	benign	not specified	2017-01-24	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000709638	SCV000743750	likely benign	Bardet-Biedl syndrome 1	2015-03-27	criteria provided, single submitter	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
Clinical Genetics, Academic Medical Center	RCV000224448	SCV001919897	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000224448	SCV002036333	likely benign	not provided		no assertion criteria provided	clinical testing