ClinVar Miner

Submissions for variant NM_000064.4(C3):c.3546C>T (p.Asn1182=)

gnomAD frequency: 0.00001  dbSNP: rs189353964
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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 RCV000924930 SCV001070457 likely benign not provided 2024-07-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495551 SCV002800487 likely benign Age related macular degeneration 9; Atypical hemolytic-uremic syndrome with C3 anomaly; Complement component 3 deficiency 2021-11-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003960434 SCV004772690 likely benign C3-related disorder 2019-07-20 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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