ClinVar Miner

Submissions for variant NM_000498.3(CYP11B2):c.518A>G (p.Lys173Arg) (rs4539)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000366140 SCV000472525 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). 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 RCV000269208 SCV000472526 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). 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 RCV000307908 SCV000472527 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). 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.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000609130 SCV000711888 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Lys173Arg in exon 3 of CYP11B2: This variant is not expected to have clinical significance because it has been identified in 49.39% (2973/6020) of Finnish chr omosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.o rg; dbSNP rs4539).

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