ClinVar Miner

Submissions for variant NM_001735.3(C5):c.4654G>A (p.Ala1552Thr)

gnomAD frequency: 0.00006  dbSNP: rs147051026
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001839134 SCV002099054 uncertain significance Complement component 5 deficiency 2021-03-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002482384 SCV002788530 uncertain significance Complement component 5 deficiency; Eculizumab, poor response to 2021-12-29 criteria provided, single submitter clinical testing

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