ClinVar Miner

Submissions for variant NM_001735.3(C5):c.1418A>G (p.His473Arg)

gnomAD frequency: 0.00093  dbSNP: rs78640581
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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 RCV001471059 SCV001675161 likely benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495697 SCV002803638 likely benign Complement component 5 deficiency; Eculizumab, poor response to 2022-02-09 criteria provided, single submitter clinical testing

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