ClinVar Miner

Submissions for variant NM_001395413.1(POR):c.1806+12G>A

gnomAD frequency: 0.00058  dbSNP: rs371432868
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000508069 SCV000604911 likely benign not specified 2016-11-10 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001164301 SCV001326419 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Invitae RCV001164301 SCV002358807 likely benign Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency 2024-01-31 criteria provided, single submitter clinical testing

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