ClinVar Miner

Submissions for variant NM_000186.4(CFH):c.1617T>C (p.Gly539=)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294703 SCV002587639 likely benign Kidney disorder 2017-02-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003097861 SCV003244517 likely benign not provided 2025-01-20 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454090 SCV004180809 likely benign Hemolytic uremic syndrome, atypical, susceptibility to, 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003456284 SCV004180810 likely benign Age related macular degeneration 4 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454092 SCV004180813 likely benign Basal laminar drusen 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454091 SCV004180814 likely benign Factor H deficiency 2023-04-11 criteria provided, single submitter clinical testing

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