Submissions for variant NM_001395413.1(POR):c.975C>T (p.Ala325=)

gnomAD frequency: 0.00136  dbSNP: rs72557941

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000757683	SCV000886002	likely benign	not provided	2017-11-08	criteria provided, single submitter	clinical testing
Invitae	RCV001088455	SCV001091670	likely benign	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001088455	SCV001322364	uncertain significance	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	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. 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.
GeneDx	RCV000757683	SCV001813600	likely benign	not provided	2021-06-17	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 14688830, 25712184)
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000757683	SCV001956425	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000757683	SCV001966410	likely benign	not provided		no assertion criteria provided	clinical testing