Submissions for variant NM_198428.3(BBS9):c.2632+9C>A

gnomAD frequency: 0.00242  dbSNP: rs148654647

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV003891993	SCV000316950	benign	BBS9-related condition	2019-10-04	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000625097	SCV000743772	benign	Bardet-Biedl syndrome 1	2014-12-15	criteria provided, single submitter	clinical testing
Invitae	RCV000862799	SCV001003353	benign	Bardet-Biedl syndrome	2024-01-29	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000253416	SCV002065546	likely benign	not specified	2019-08-26	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002494780	SCV002803687	likely benign	Bardet-Biedl syndrome 9	2021-07-29	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000625097	SCV000745834	likely benign	Bardet-Biedl syndrome 1	2017-04-19	no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001726079	SCV001964608	likely benign	not provided		no assertion criteria provided	clinical testing