ClinVar Miner

Submissions for variant NM_000064.4(C3):c.1767C>T (p.His589=)

gnomAD frequency: 0.00001  dbSNP: rs775843240
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000386416 SCV000415056 uncertain significance Atypical hemolytic-uremic syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000296792 SCV000415057 uncertain significance Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000351605 SCV000415058 uncertain significance C3 deficiency 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000928120 SCV001073725 likely benign not provided 2018-09-12 criteria provided, single submitter clinical testing

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