ClinVar Miner

Submissions for variant NM_000685.5(AGTR1):c.*86A>C

gnomAD frequency: 0.20976  dbSNP: rs5186
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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 RCV000374969 SCV000441522 benign Renal tubular dysgenesis 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.
GeneDx RCV001723581 SCV001950735 benign not provided 2021-06-18 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 17668390, 22237156, 21638051, 20525211, 19021695, 22475523, 18985387, 20703234, 19236533, 19620885, 21799445, 17588946, 21771600, 20026870, 21436209, 22392878, 20594303, 20361261, 21657802, 25603901, 22664914, 8021009, 23615648, 30920415, 27016615, 26283679)
Fulgent Genetics, Fulgent Genetics RCV002482889 SCV002803520 likely benign Essential hypertension, genetic; Renal tubular dysgenesis of genetic origin 2021-08-16 criteria provided, single submitter clinical testing
OMIM RCV000019688 SCV000039986 risk factor Hypertension, essential, susceptibility to 2007-08-01 no assertion criteria provided literature only

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