Submissions for variant NM_031885.5(BBS2):c.865A>G (p.Ile289Val)

gnomAD frequency: 0.00113  dbSNP: rs150384293

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV001094337	SCV000398063	benign	Bardet-Biedl syndrome 2	2018-01-12	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	RCV000310340	SCV000636530	benign	Bardet-Biedl syndrome	2024-01-31	criteria provided, single submitter	clinical testing
Dept Of Ophthalmology, Nagoya University	RCV003888748	SCV004705068	benign	Retinal dystrophy	2023-10-01	criteria provided, single submitter	research
Breakthrough Genomics, Breakthrough Genomics	RCV001706511	SCV005292127	benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV001094337	SCV001457439	benign	Bardet-Biedl syndrome 2	2020-09-16	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001579626	SCV001807934	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001706511	SCV001932786	likely benign	not provided		no assertion criteria provided	clinical testing