Submissions for variant NM_000475.5(NR0B1):c.600C>G (p.Cys200Trp)

gnomAD frequency: 0.00039  dbSNP: rs143141578

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV002489279	SCV001091344	benign	Congenital adrenal hypoplasia, X-linked; 46,XY sex reversal 2	2024-01-27	criteria provided, single submitter	clinical testing
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	RCV002470998	SCV002768861	likely benign	Congenital adrenal hypoplasia, X-linked	2021-05-06	criteria provided, single submitter	clinical testing	Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as likely benign. Following criteria are met: 0308 - Population frequency for this variant is out of keeping with known incidence of congenital adrenal hypoplasia (MIM# 300200). (SB) 0805 - This variant has strong previous evidence of being benign in unrelated individuals. This variant has previously been reported as benign and likely benign multiple times (ClinVar; LOVD). In addition, it was reported in a female proband however the variant was also identified in her unaffacted father and sister (PMID:16459121). (SB) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign
Fulgent Genetics, Fulgent Genetics	RCV002489279	SCV002794900	likely benign	Congenital adrenal hypoplasia, X-linked; 46,XY sex reversal 2	2021-07-29	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000945344	SCV001927390	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000945344	SCV001967647	likely benign	not provided		no assertion criteria provided	clinical testing