Submissions for variant NM_000497.4(CYP11B1):c.930A>G (p.Glu310=)

gnomAD frequency: 0.00029  dbSNP: rs148707144

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000284859	SCV000472346	likely 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). 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.
Illumina Laboratory Services, Illumina	RCV000323554	SCV000472347	likely 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000874014	SCV001016128	likely benign	not provided	2024-08-12	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000874014	SCV005330275	likely benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	CYP11B1: BP4, BP7