ClinVar Miner

Submissions for variant NM_000186.4(CFH):c.3150T>C (p.Asn1050=)

gnomAD frequency: 0.00269  dbSNP: rs113347629
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001700879 SCV002066397 benign not specified 2018-12-05 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294476 SCV002587458 likely benign Kidney disorder 2020-01-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002477892 SCV002801783 benign Basal laminar drusen; Factor H deficiency; Hemolytic uremic syndrome, atypical, susceptibility to, 1; Age related macular degeneration 4 2021-12-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451850 SCV004177410 benign Hemolytic uremic syndrome, atypical, susceptibility to, 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003456242 SCV004177411 benign Age related macular degeneration 4 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451852 SCV004177412 benign Basal laminar drusen 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451851 SCV004177413 benign Factor H deficiency 2023-04-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001702977 SCV004699774 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing CFH: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV001702977 SCV005258761 likely benign not provided criteria provided, single submitter not provided
Clinical Genetics, Academic Medical Center RCV001700879 SCV001924147 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702977 SCV001927462 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001700879 SCV001964928 benign not specified no assertion criteria provided clinical testing

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