Submissions for variant NM_031885.5(BBS2):c.1523A>C (p.Gln508Pro)

gnomAD frequency: 0.00068  dbSNP: rs115328064

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000199008	SCV000255140	likely benign	Bardet-Biedl syndrome	2024-01-30	criteria provided, single submitter	clinical testing
Counsyl	RCV000665496	SCV000789630	uncertain significance	Bardet-Biedl syndrome 2	2017-02-08	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001818493	SCV002067121	uncertain significance	not specified	2018-06-06	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004530199	SCV004749511	likely benign	BBS2-related disorder	2020-08-26	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Clinical Genetics, Academic Medical Center	RCV001729451	SCV001978806	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001729451	SCV001980425	uncertain significance	not provided		no assertion criteria provided	clinical testing
Natera, Inc.	RCV000665496	SCV002089270	likely benign	Bardet-Biedl syndrome 2	2020-02-25	no assertion criteria provided	clinical testing