ClinVar Miner

Submissions for variant NM_000064.4(C3):c.2951-5_2951-3del

dbSNP: rs544122376
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000767911 SCV000898558 uncertain significance Age related macular degeneration 9; Atypical hemolytic-uremic syndrome with C3 anomaly; Complement component 3 deficiency 2021-03-30 criteria provided, single submitter clinical testing C3 NM_000064.3 exon 24 c.2951-5_2951-3del: This variant is present in 0.7% (186/24898) of African alleles, including 1 homozygote, in the Genome Aggregation Database (http://gnomad.broadinstitute.org/19-6694647-TGCA-T). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. This variant is a deletion of 3 nucelotides in the intronic region; splice prediction tools suggest no effect on splicing. However, further studies are needed to understand its impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp RCV000902612 SCV001047042 benign not provided 2023-12-25 criteria provided, single submitter clinical testing

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