ClinVar Miner

Submissions for variant NM_000176.3(NR3C1):c.66G>A (p.Glu22=)

gnomAD frequency: 0.01685  dbSNP: rs6189
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000360936 SCV000453467 likely benign Glucocorticoid resistance 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 determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Mendelics RCV000360936 SCV001136988 benign Glucocorticoid resistance 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV002055861 SCV002467425 benign not provided 2024-01-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003905247 SCV004728789 benign NR3C1-related condition 2019-07-17 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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