ClinVar Miner

Submissions for variant NM_000498.3(CYP11B2):c.504C>T (p.Phe168=) (rs4546)

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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 RCV000370864 SCV000472528 benign Corticosterone methyloxidase type 1 deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000273968 SCV000472529 benign Corticosterone methyloxidase type 2 deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000331401 SCV000472530 benign Hyperaldosteronism, familial, type I 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000615092 SCV000711889 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Phe168Phe in exon 3 of CYP11B2: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence, and has been identified in 49.56% (3052/6158) of Finnish chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.b roadinstitute.org; dbSNP rs4546).

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