ClinVar Miner

Submissions for variant NM_000064.4(C3):c.3647-13A>G

gnomAD frequency: 0.00002  dbSNP: rs760807491
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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 RCV001498737 SCV001703490 likely benign not provided 2023-06-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501717 SCV002806344 likely benign Age related macular degeneration 9; Atypical hemolytic-uremic syndrome with C3 anomaly; Complement component 3 deficiency 2021-10-29 criteria provided, single submitter clinical testing

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