ClinVar Miner

Submissions for variant NM_000186.4(CFH):c.3234G>T (p.Arg1078Ser)

gnomAD frequency: 0.00004  dbSNP: rs121913062
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001723576 SCV004224720 uncertain significance not provided 2022-10-24 criteria provided, single submitter clinical testing
OMIM RCV000018029 SCV000038308 pathogenic Basal laminar drusen 2008-02-01 no assertion criteria provided literature only
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001723576 SCV001965845 uncertain significance not provided no assertion criteria provided clinical testing

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