ClinVar Miner

Submissions for variant NM_000064.4(C3):c.4547-16C>G

dbSNP: rs1414347444
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002121675 SCV002448859 likely benign not provided 2021-11-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002480987 SCV002799273 likely benign Age related macular degeneration 9; Atypical hemolytic-uremic syndrome with C3 anomaly; Complement component 3 deficiency 2022-02-23 criteria provided, single submitter clinical testing

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