ClinVar Miner

Submissions for variant NM_000204.5(CFI):c.603A>C (p.Arg201Ser)

gnomAD frequency: 0.00004  dbSNP: rs145769028
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001148814 SCV001309725 benign Atypical hemolytic-uremic syndrome with I factor anomaly 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Invitae RCV002557194 SCV003525860 likely benign not provided 2023-12-22 criteria provided, single submitter clinical testing

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