ClinVar Miner

Submissions for variant NM_000064.4(C3):c.2441-7C>T

gnomAD frequency: 0.00006  dbSNP: rs372528487
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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 RCV002116347 SCV002447387 likely benign not provided 2024-05-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494395 SCV002795985 likely benign Age related macular degeneration 9; Atypical hemolytic-uremic syndrome with C3 anomaly; Complement component 3 deficiency 2021-07-20 criteria provided, single submitter clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004816966 SCV005070110 uncertain significance Retinal dystrophy 2022-01-01 no assertion criteria provided clinical testing

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