ClinVar Miner

Submissions for variant NM_000064.4(C3):c.75-1G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics, Johns Hopkins University RCV003320432 SCV004024527 likely pathogenic Atypical hemolytic-uremic syndrome with C3 anomaly 2023-05-25 criteria provided, single submitter clinical testing This C3 canonical splice variant is absent from a large population dataset and has not been reported in ClinVar , nor the literature, to our knowledge. This variant destroys a canonical splice acceptor site, and is predicted to cause abnormal gene splicing. We consider c.75-1G>A in C3 to be likely pathogenic.

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