ClinVar Miner

Submissions for variant NM_000204.5(CFI):c.1246A>C (p.Ile416Leu)

gnomAD frequency: 0.00369  dbSNP: rs61733901
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000382874 SCV000446872 likely benign Atypical hemolytic-uremic syndrome with I factor anomaly 2017-04-28 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 determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV000969480 SCV001117002 benign not provided 2024-01-19 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000969480 SCV001713304 uncertain significance not provided 2023-03-10 criteria provided, single submitter clinical testing BS1
GeneDx RCV000969480 SCV001883883 benign not provided 2020-04-14 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 17599974, 30541482, 24036952, 21445332, 25796589, 21188423, 18557729, 29148534, 20016463, 33238263, 28224376, 29136640, 29292855)
Genetic Services Laboratory, University of Chicago RCV001821054 SCV002071096 likely benign not specified 2017-11-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004544648 SCV004766433 likely benign CFI-related disorder 2021-02-19 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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