ClinVar Miner

Submissions for variant NM_000064.4(C3):c.2440+96T>C

gnomAD frequency: 0.65473  dbSNP: rs433594
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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 RCV001554407 SCV001775650 benign Complement component 3 deficiency 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554408 SCV001775651 benign Age related macular degeneration 9 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001638168 SCV001849050 benign not provided 2018-11-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001638168 SCV005310268 benign not provided criteria provided, single submitter not provided

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