ClinVar Miner

Submissions for variant NM_000186.4(CFH):c.1690T>C (p.Cys564Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MVZ Medizinische Genetik Mainz RCV004555391 SCV005044364 likely pathogenic Hemolytic uremic syndrome, atypical, susceptibility to, 1 2022-04-29 criteria provided, single submitter clinical testing ACMG Criteria: PM1_STR, PM2_SUP, PM5_SUP, PP3, PP4 (ACMG Version 3)
Mayo Clinic Laboratories, Mayo Clinic RCV004791692 SCV005409893 uncertain significance not provided 2023-08-07 criteria provided, single submitter clinical testing PP3, PM2

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