ClinVar Miner

Submissions for variant NM_000186.4(CFH):c.3169G>A (p.Ala1057Thr)

dbSNP: rs1652885970
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001332257 SCV001524514 uncertain significance Factor H deficiency 2020-09-15 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Revvity Omics, Revvity RCV003145578 SCV003831613 uncertain significance not provided 2019-12-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449943 SCV004177421 uncertain significance Hemolytic uremic syndrome, atypical, susceptibility to, 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003456221 SCV004177422 uncertain significance Age related macular degeneration 4 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449944 SCV004177423 uncertain significance Basal laminar drusen 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001332257 SCV004177424 uncertain significance Factor H deficiency 2023-04-11 criteria provided, single submitter clinical testing

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