ClinVar Miner

Submissions for variant NM_002113.3(CFHR1):c.790+1G>A

gnomAD frequency: 0.00774  dbSNP: rs140799744
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cavalleri Lab, Royal College of Surgeons in Ireland RCV001171355 SCV001328302 uncertain significance Chronic kidney disease 2020-05-28 criteria provided, single submitter research PVS1 ,PP3
Mayo Clinic Laboratories, Mayo Clinic RCV001509106 SCV001715637 uncertain significance not provided 2023-04-11 criteria provided, single submitter clinical testing BS1, PP3
Genetic Services Laboratory, University of Chicago RCV001819872 SCV002066408 benign not specified 2019-05-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001509106 SCV004125168 benign not provided 2022-11-01 criteria provided, single submitter clinical testing CFHR1: BS1, BS2

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