ClinVar Miner

Submissions for variant NM_000901.5(NR3C2):c.-2C>G (rs2070951)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000248688 SCV000305572 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000355928 SCV000447679 benign Autosomal dominant pseudohypoaldosteronism type 1 2018-03-06 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000248688 SCV000711765 benign not specified 2016-02-17 criteria provided, single submitter clinical testing This is a RefSeq error. The reference base (c.-2C) is the minor allele. This all ele (C) has been identified in 48.2% (28400/58962) of European chromosomes by th e Exome Aggregation Consortium (ExAC,; dbSNP rs20 70951) and thus meets criteria to be classified as benign.

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