ClinVar Miner

Submissions for variant NM_000186.4(CFH):c.3045T>C (p.Thr1015=)

gnomAD frequency: 0.00009  dbSNP: rs147864267
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002117060 SCV002400814 likely benign not provided 2024-05-21 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294509 SCV002587149 uncertain significance Kidney disorder 2016-12-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494209 SCV002796160 likely benign Basal laminar drusen; Factor H deficiency; Hemolytic uremic syndrome, atypical, susceptibility to, 1; Age related macular degeneration 4 2021-12-14 criteria provided, single submitter clinical testing

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