ClinVar Miner

Submissions for variant NM_000497.3(CYP11B1):c.413G>A (p.Arg138His) (rs193922540)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000029647 SCV000052299 likely pathogenic Congenital adrenal hyperplasia 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely pathogenic.
Illumina Clinical Services Laboratory,Illumina RCV001158699 SCV001320351 uncertain significance Deficiency of steroid 11-beta-monooxygenase 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). 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.
Illumina Clinical Services Laboratory,Illumina RCV001165427 SCV001327617 uncertain significance Hyperaldosteronism, familial, type I 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). 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.

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