Submissions for variant NM_000498.3(CYP11B2):c.518A>G (p.Lys173Arg)

gnomAD frequency: 0.38300  dbSNP: rs4539

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000366140	SCV000472525	benign	Corticosterone methyloxidase type 2 deficiency	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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina	RCV000269208	SCV000472526	benign	Corticosterone 18-monooxygenase deficiency	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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina	RCV000307908	SCV000472527	benign	Glucocorticoid-remediable aldosteronism	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 rule this variant out of causing disease. Therefore, this variant is classified as benign.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000609130	SCV000711888	benign	not specified	2016-03-21	criteria provided, single submitter	clinical testing	p.Lys173Arg in exon 3 of CYP11B2: This variant is not expected to have clinical significance because it has been identified in 49.39% (2973/6020) of Finnish chr omosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.o rg; dbSNP rs4539).
Invitae	RCV001520473	SCV001729578	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000269208	SCV001748471	benign	Corticosterone 18-monooxygenase deficiency	2021-07-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000366140	SCV001748472	benign	Corticosterone methyloxidase type 2 deficiency	2021-07-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001520473	SCV001887937	benign	not provided	2018-08-21	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 8954040)
Fulgent Genetics, Fulgent Genetics	RCV002488813	SCV002802999	benign	Corticosterone 18-monooxygenase deficiency; Corticosterone methyloxidase type 2 deficiency	2021-08-29	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001275480	SCV001460646	benign	Corticosterone methyl oxidase type II deficiency	2019-08-23	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000609130	SCV001739847	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000609130	SCV001958626	benign	not specified		no assertion criteria provided	clinical testing