Submissions for variant NM_198428.3(BBS9):c.2363C>T (p.Ser788Phe)

gnomAD frequency: 0.00053  dbSNP: rs61753526

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000723782	SCV000227860	uncertain significance	not provided	2014-06-13	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000243461	SCV000316948	likely benign	not specified		criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000243461	SCV000593614	uncertain significance	not specified	2017-01-09	criteria provided, single submitter	clinical testing
Invitae	RCV001085388	SCV001000552	likely benign	Bardet-Biedl syndrome	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001165277	SCV001327457	likely benign	Bardet-Biedl syndrome 9	2017-04-27	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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
CeGaT Center for Human Genetics Tuebingen	RCV000723782	SCV001745978	uncertain significance	not provided	2021-05-01	criteria provided, single submitter	clinical testing