ClinVar Miner

Submissions for variant NM_001735.3(C5):c.450C>T (p.Asp150=)

gnomAD frequency: 0.00081  dbSNP: rs141829974
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 RCV002165009 SCV002337634 benign not provided 2023-12-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494042 SCV002802909 likely benign Complement component 5 deficiency; Eculizumab, poor response to 2021-12-05 criteria provided, single submitter clinical testing

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