ClinVar Miner

Submissions for variant NM_001735.3(C5):c.4899C>T (p.Phe1633=)

gnomAD frequency: 0.00047  dbSNP: rs149147126
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 RCV002098373 SCV002399134 likely benign not provided 2024-01-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499942 SCV002807795 likely benign Complement component 5 deficiency; Eculizumab, poor response to 2021-12-23 criteria provided, single submitter clinical testing

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