Submissions for variant NM_198428.3(BBS9):c.1546C>A (p.Pro516Thr)

gnomAD frequency: 0.01649  dbSNP: rs73688160

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000247367	SCV000316940	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001095136	SCV000468798	benign	Bardet-Biedl syndrome 9	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.
Invitae	RCV000368161	SCV000563563	benign	Bardet-Biedl syndrome	2024-01-31	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000709635	SCV000743765	benign	Bardet-Biedl syndrome 1	2015-01-27	criteria provided, single submitter	clinical testing
GeneDx	RCV001706406	SCV001881171	benign	not provided	2020-06-29	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV001095136	SCV002808249	benign	Bardet-Biedl syndrome 9	2022-01-19	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000709635	SCV000745829	benign	Bardet-Biedl syndrome 1	2017-04-19	no assertion criteria provided	clinical testing