Submissions for variant NM_031885.5(BBS2):c.1422G>A (p.Ser474=)

gnomAD frequency: 0.00250  dbSNP: rs117033008

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000174411	SCV000225706	benign	not specified	2015-02-12	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000174411	SCV000314809	likely benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001094291	SCV000398057	uncertain significance	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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Genetic Services Laboratory, University of Chicago	RCV000174411	SCV000593599	likely benign	not specified	2017-03-28	criteria provided, single submitter	clinical testing
Invitae	RCV000279525	SCV000636524	benign	Bardet-Biedl syndrome	2024-01-31	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000709677	SCV000745154	likely benign	Bardet-Biedl syndrome 1	2017-06-28	criteria provided, single submitter	clinical testing
Pars Genome Lab	RCV001094291	SCV001652829	likely benign	Bardet-Biedl syndrome 2	2021-05-18	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003884375	SCV004700433	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	BBS2: BP4, BS2
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000709677	SCV000745822	benign	Bardet-Biedl syndrome 1	2017-04-19	no assertion criteria provided	clinical testing
Natera, Inc.	RCV001094291	SCV001457433	benign	Bardet-Biedl syndrome 2	2020-09-16	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000174411	SCV001917646	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000174411	SCV001928787	benign	not specified		no assertion criteria provided	clinical testing