ClinVar Miner

Submissions for variant NM_030787.4(CFHR5):c.826G>A (p.Glu276Lys)

gnomAD frequency: 0.00001  dbSNP: rs199531514
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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 RCV001817449 SCV002068293 likely benign not specified 2018-01-29 criteria provided, single submitter clinical testing
Invitae RCV002542534 SCV003508569 likely benign not provided 2022-06-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451957 SCV004177504 likely benign CFHR5 deficiency 2023-04-11 criteria provided, single submitter clinical testing

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