ClinVar Miner

Submissions for variant NM_000064.4(C3):c.1650C>T (p.Ser550=)

gnomAD frequency: 0.00019  dbSNP: rs138835619
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002168415 SCV002425756 likely benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002508053 SCV002807710 likely benign Age related macular degeneration 9; Atypical hemolytic-uremic syndrome with C3 anomaly; Complement component 3 deficiency 2021-11-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002168415 SCV004146414 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing C3: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003913768 SCV004731059 likely benign C3-related disorder 2019-06-05 no assertion criteria provided 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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