ClinVar Miner

Submissions for variant NM_001735.3(C5):c.1704C>T (p.Gly568=)

gnomAD frequency: 0.00001  dbSNP: rs758651657
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001939764 SCV002174793 likely benign not provided 2023-09-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002478319 SCV002793506 uncertain significance Complement component 5 deficiency; Eculizumab, poor response to 2021-11-16 criteria provided, single submitter clinical testing

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