ClinVar Miner

Submissions for variant NM_001735.3(C5):c.3033G>C (p.Glu1011Asp)

gnomAD frequency: 0.00349  dbSNP: rs150096192
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000890780 SCV001034553 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501464 SCV002808897 likely benign Complement component 5 deficiency; Eculizumab, poor response to 2022-04-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000890780 SCV004699805 benign not provided 2024-02-01 criteria provided, single submitter clinical testing C5: BS1, BS2

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