ClinVar Miner

Submissions for variant NM_000064.4(C3):c.2118G>A (p.Ser706=)

gnomAD frequency: 0.00001  dbSNP: rs755973774
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001817224 SCV002065127 likely benign not specified 2017-09-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002077284 SCV002371083 likely benign not provided 2024-06-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506847 SCV002805789 likely benign Age related macular degeneration 9; Atypical hemolytic-uremic syndrome with C3 anomaly; Complement component 3 deficiency 2021-12-02 criteria provided, single submitter clinical testing

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