ClinVar Miner

Submissions for variant NM_030787.4(CFHR5):c.533A>G (p.Asn178Ser)

gnomAD frequency: 0.00013  dbSNP: rs200427185
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001822757 SCV002065756 likely benign not specified 2021-11-24 criteria provided, single submitter clinical testing
Invitae RCV002074368 SCV002379408 benign not provided 2023-11-13 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003456244 SCV004177497 likely benign CFHR5 deficiency 2023-04-11 criteria provided, single submitter clinical testing

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