ClinVar Miner

Submissions for variant NM_021023.6(CFHR3):c.805A>G (p.Ile269Val)

gnomAD frequency: 0.00112  dbSNP: rs139520520
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000954374 SCV001101003 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502957 SCV002804544 likely benign Hemolytic uremic syndrome, atypical, susceptibility to, 1; Age related macular degeneration 1 2022-03-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000954374 SCV004042458 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing CFHR3: BP4, BS2
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000954374 SCV001927561 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000954374 SCV001955384 likely benign not provided no assertion criteria provided clinical testing

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