Submissions for variant NM_031885.5(BBS2):c.2079G>A (p.Gln693=)

gnomAD frequency: 0.00034  dbSNP: rs150797250

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV001094387	SCV000398046	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000330583	SCV000562154	benign	Bardet-Biedl syndrome	2024-01-31	criteria provided, single submitter	clinical testing
Dept Of Ophthalmology, Nagoya University	RCV003888746	SCV004705049	benign	Retinal dystrophy	2023-10-01	criteria provided, single submitter	research
Natera, Inc.	RCV001094387	SCV001457497	benign	Bardet-Biedl syndrome 2	2019-12-03	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001795940	SCV002034252	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001795940	SCV002034438	benign	not specified		no assertion criteria provided	clinical testing