ClinVar Miner

Submissions for variant NM_002113.3(CFHR1):c.641T>A (p.Ile214Asn)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV004794158 SCV005411229 uncertain significance not provided 2024-05-29 criteria provided, single submitter clinical testing PM2
Fulgent Genetics, Fulgent Genetics RCV005003810 SCV005632469 uncertain significance Hemolytic uremic syndrome, atypical, susceptibility to, 1; Age related macular degeneration 1 2024-05-09 criteria provided, single submitter clinical testing

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