ClinVar Miner

Submissions for variant NM_000498.3(CYP11B2):c.1157T>C (p.Val386Ala) (rs61757294)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000321492 SCV000472444 benign Hyperaldosteronism, familial, type I 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Clinical Services Laboratory,Illumina RCV000357616 SCV000472445 benign Corticosterone methyloxidase type 2 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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Illumina Clinical Services Laboratory,Illumina RCV000272288 SCV000472446 benign Corticosterone methyloxidase type 1 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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Invitae RCV000949532 SCV001095790 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000357616 SCV001137713 benign Corticosterone methyloxidase type 2 deficiency 2019-05-28 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000357616 SCV001338878 not provided Corticosterone methyloxidase type 2 deficiency no assertion provided phenotyping only Variant interpretted as Pathogenic and reported on 05-03-2012 by Lab or GTR ID 504843. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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