ClinVar Miner

Submissions for variant NM_001735.3(C5):c.3659-6G>A

gnomAD frequency: 0.00009  dbSNP: rs201384752
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002074948 SCV002430172 benign not provided 2023-12-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500112 SCV002808100 likely benign Complement component 5 deficiency; Eculizumab, poor response to 2021-11-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003978777 SCV004789447 likely benign C5-related disorder 2019-04-19 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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