ClinVar Miner

Submissions for variant NM_030787.4(CFHR5):c.254-2_266dup

dbSNP: rs781568341
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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 RCV001509108 SCV001715640 uncertain significance not provided 2020-12-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001509108 SCV003030940 likely benign not provided 2025-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001509108 SCV005325680 uncertain significance not provided 2023-08-01 criteria provided, single submitter clinical testing Identified in patients with atypical hemolytic uremic syndrome and a patient with HELLP syndrome; all patients were reported to have an additional variant in another gene (Nga et al., 2021; Palma et al., 2021; Bazzan et al., 2020); In silico analysis suggests this variant may impact gene splicing; in the absence of RNA/functional studies, the actual effect of this sequence change is unknown; This variant is associated with the following publications: (PMID: 32890900, 33841858, 34748552)

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