Submissions for variant NM_152618.3(BBS12):c.1381A>C (p.Asn461His)

gnomAD frequency: 0.02523  dbSNP: rs10027479

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000249356	SCV000316222	benign	not specified		criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000249356	SCV000343140	benign	not specified	2016-07-05	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001094860	SCV000447421	likely benign	Bardet-Biedl syndrome 12	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). 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.
Invitae	RCV000350363	SCV000558137	benign	Bardet-Biedl syndrome	2024-01-31	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000086943	SCV000610169	benign	not provided	2017-05-30	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000709643	SCV000743649	benign	Bardet-Biedl syndrome 1	2014-12-15	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000709643	SCV000744980	benign	Bardet-Biedl syndrome 1	2015-09-21	criteria provided, single submitter	clinical testing
GeneDx	RCV000086943	SCV001950511	benign	not provided	2021-05-05	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 20498079, 22025579, 27884173, 27894351)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000249356	SCV002051031	likely benign	not specified	2021-12-10	criteria provided, single submitter	clinical testing
NEI Ophthalmic Genomics Laboratory, National Institutes of Health	RCV000086943	SCV000119195	not provided	not provided		no assertion provided	not provided
Natera, Inc.	RCV001094860	SCV001462020	benign	Bardet-Biedl syndrome 12	2020-09-16	no assertion criteria provided	clinical testing