ClinVar Miner

Submissions for variant NM_001735.3(C5):c.4018-18T>A

gnomAD frequency: 0.00016  dbSNP: rs762212329
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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 RCV002128248 SCV002450748 likely benign not provided 2024-01-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494407 SCV002799333 likely benign Complement component 5 deficiency; Eculizumab, poor response to 2022-04-01 criteria provided, single submitter clinical testing

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