Submissions for variant NM_001395413.1(POR):c.1191G>A (p.Ser397=)

gnomAD frequency: 0.00010  dbSNP: rs372401863

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000757681	SCV000886000	likely benign	not provided	2017-10-18	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001164197	SCV001326306	uncertain significance	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	2017-04-28	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. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Invitae	RCV001164197	SCV002431334	likely benign	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	2024-01-19	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000757681	SCV004162313	likely benign	not provided	2023-01-01	criteria provided, single submitter	clinical testing	POR: BP4, BP7