ClinVar Miner

Submissions for variant NM_000064.4(C3):c.1686+78C>T

gnomAD frequency: 0.99827  dbSNP: rs189367
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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 RCV001554506 SCV001775758 benign Complement component 3 deficiency 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554507 SCV001775759 benign Age related macular degeneration 9 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001709741 SCV001937426 benign not provided 2021-06-18 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001709741 SCV005312457 benign not provided criteria provided, single submitter not provided

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