ClinVar Miner

Submissions for variant NM_000186.4(CFH):c.3590T>C (p.Val1197Ala)

gnomAD frequency: 0.00001  dbSNP: rs460184
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000020180 SCV001524515 pathogenic Hemolytic uremic syndrome, atypical, susceptibility to, 1 2019-08-23 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Mayo Clinic Laboratories, Mayo Clinic RCV001843943 SCV002103258 pathogenic not provided 2022-01-04 criteria provided, single submitter clinical testing PM1, PS3, PS4
CeGaT Center for Human Genetics Tuebingen RCV001843943 SCV002585170 likely pathogenic not provided 2022-08-01 criteria provided, single submitter clinical testing CFH: PS3, PS4:Moderate, PP2, BP4
Fulgent Genetics, Fulgent Genetics RCV002490396 SCV002791130 likely pathogenic Basal laminar drusen; Factor H deficiency; Hemolytic uremic syndrome, atypical, susceptibility to, 1; Age related macular degeneration 4 2022-04-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003450649 SCV004177479 likely pathogenic Factor H deficiency 2023-04-11 criteria provided, single submitter clinical testing
GeneReviews RCV000020180 SCV000040513 not provided Hemolytic uremic syndrome, atypical, susceptibility to, 1 no assertion provided literature only

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