Submissions for variant NM_031885.5(BBS2):c.367A>G (p.Ile123Val)

gnomAD frequency: 0.20545  dbSNP: rs11373

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000241605	SCV000314812	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000576482	SCV000398071	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.
Athena Diagnostics	RCV000576482	SCV000677147	benign	Bardet-Biedl syndrome 2	2017-06-02	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000709672	SCV000745157	benign	Bardet-Biedl syndrome 1	2015-09-21	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000261972	SCV001000396	benign	Bardet-Biedl syndrome	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000576482	SCV001737391	benign	Bardet-Biedl syndrome 2	2021-06-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001526785	SCV001737392	benign	Retinitis pigmentosa 74	2021-06-10	criteria provided, single submitter	clinical testing
GeneDx	RCV001706364	SCV001883535	benign	not provided	2018-11-10	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 24746959, 20498079, 24400638)
Dept Of Ophthalmology, Nagoya University	RCV003888665	SCV004705078	uncertain significance	Retinal dystrophy	2023-10-01	criteria provided, single submitter	research
Breakthrough Genomics, Breakthrough Genomics	RCV001706364	SCV005292130	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000709672	SCV000733506	benign	Bardet-Biedl syndrome 1		no assertion criteria provided	clinical testing
Natera, Inc.	RCV000576482	SCV001458475	benign	Bardet-Biedl syndrome 2	2020-09-16	no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000241605	SCV001953952	benign	not specified		no assertion criteria provided	clinical testing