ClinVar Miner

Submissions for variant NM_001735.3(C5):c.1287G>A (p.Thr429=)

dbSNP: rs145139701
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001523661 SCV001733416 benign not provided 2025-01-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495838 SCV002800971 likely benign Complement component 5 deficiency; Eculizumab, poor response to 2021-11-18 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004699410 SCV005203698 benign not specified 2024-07-03 criteria provided, single submitter clinical testing

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