Submissions for variant NM_000497.4(CYP11B1):c.1157C>T (p.Ala386Val)

gnomAD frequency: 0.04552  dbSNP: rs4541

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000287487	SCV000472326	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.
Illumina Laboratory Services, Illumina	RCV000344753	SCV000472327	benign	Deficiency of steroid 11-beta-monooxygenase	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.
Department of Human Genetics, Laborarztpraxis Dres. Walther, Weindel und Kollegen	RCV000344753	SCV001424547	benign	Deficiency of steroid 11-beta-monooxygenase	2020-04-20	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001515368	SCV001723425	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001515368	SCV005273557	benign	not provided		criteria provided, single submitter	not provided