Submissions for variant NM_152618.3(BBS12):c.355G>A (p.Gly119Ser)

gnomAD frequency: 0.00439  dbSNP: rs77731085

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000199683	SCV000252885	benign	Bardet-Biedl syndrome	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001144904	SCV001305524	likely benign	Bardet-Biedl syndrome 12	2017-09-28	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Genetic Services Laboratory, University of Chicago	RCV001818474	SCV002071103	likely benign	not specified	2020-11-17	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001818474	SCV002547702	likely benign	not specified	2022-05-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003884395	SCV004698654	benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	BBS12: BS1, BS2
Natera, Inc.	RCV001144904	SCV001460977	benign	Bardet-Biedl syndrome 12	2020-09-16	no assertion criteria provided	clinical testing