Submissions for variant NM_000781.3(CYP11A1):c.939C>T (p.Phe313=)

gnomAD frequency: 0.01114  dbSNP: rs4986873

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000371848	SCV000393928	benign	Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx	RCV001571960	SCV001796525	likely benign	not provided	2021-03-10	criteria provided, single submitter	clinical testing
Invitae	RCV001571960	SCV002408810	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001571960	SCV004699217	benign	not provided	2022-11-01	criteria provided, single submitter	clinical testing	CYP11A1: BP4, BP7, BS1, BS2