ClinVar Miner

Submissions for variant NM_000064.4(C3):c.2950+48T>C

gnomAD frequency: 0.70105  dbSNP: rs2287848
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001554745 SCV001776048 benign Complement component 3 deficiency 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554746 SCV001776049 benign Age related macular degeneration 9 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001685526 SCV001901067 benign not provided 2021-06-18 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001685526 SCV005310247 benign not provided criteria provided, single submitter not provided

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