ClinVar Miner

Submissions for variant NM_001735.3(C5):c.2715T>C (p.Ile905=)

gnomAD frequency: 0.00014  dbSNP: rs139794186
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002140849 SCV002466005 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505813 SCV002804478 likely benign Complement component 5 deficiency; Eculizumab, poor response to 2022-01-13 criteria provided, single submitter clinical testing

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