ClinVar Miner

Submissions for variant NM_000064.4(C3):c.2685C>T (p.Ser895=)

gnomAD frequency: 0.00189  dbSNP: rs138884408
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000902613 SCV001047043 benign not provided 2023-12-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502674 SCV002805132 likely benign Age related macular degeneration 9; Atypical hemolytic-uremic syndrome with C3 anomaly; Complement component 3 deficiency 2021-08-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000902613 SCV005310265 benign not provided criteria provided, single submitter not provided

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