ClinVar Miner

Submissions for variant NM_021023.6(CFHR3):c.53G>C (p.Gly18Ala)

gnomAD frequency: 0.00156  dbSNP: rs140313679
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000954223 SCV001100842 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294421 SCV002587666 benign Atypical hemolytic-uremic syndrome 2020-07-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702574 SCV001928573 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001702574 SCV001965545 benign not specified no assertion criteria provided clinical testing

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