ClinVar Miner

Submissions for variant NM_000941.3(POR):c.1891G>A (p.Val631Ile) (rs145782750)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000353254 SCV000336691 uncertain significance not provided 2015-11-05 criteria provided, single submitter clinical testing
Invitae RCV001088190 SCV001020803 benign Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000353254 SCV001155092 likely benign not provided 2020-02-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001088190 SCV001326421 uncertain significance Disordered steroidogenesis 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.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001285434 SCV001471857 likely benign none provided 2020-03-27 criteria provided, single submitter clinical testing

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