ClinVar Miner

Submissions for variant NM_000029.4(AGT):c.1116A>G (p.Leu372=)

gnomAD frequency: 0.94659  dbSNP: rs7080
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000250884 SCV000301562 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000375752 SCV000355393 benign Renal tubular dysgenesis 2018-01-13 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.
Genome-Nilou Lab RCV000375752 SCV001768843 benign Renal tubular dysgenesis 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001668403 SCV001883922 benign not provided 2018-11-10 criteria provided, single submitter clinical testing
Invitae RCV001668403 SCV002447859 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500843 SCV002811450 likely benign Essential hypertension, genetic; Renal tubular dysgenesis of genetic origin 2021-11-11 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000250884 SCV001744123 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000250884 SCV001954291 benign not specified no assertion criteria provided clinical testing

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