ClinVar Miner

Submissions for variant NM_000146.4(FTL):c.163T>C (p.Leu55=)

gnomAD frequency: 0.51379  dbSNP: rs2230267
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Total submissions: 17
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000146000 SCV000193149 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000146000 SCV000302651 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000315169 SCV000414210 benign Neuroferritinopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000369896 SCV000414211 benign Hereditary hyperferritinemia with congenital cataracts 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000370536 SCV000483740 benign Glycogen storage disease due to muscle and heart glycogen synthase deficiency 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000839535 SCV000981436 benign not provided 2018-03-24 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Mendelics RCV000369896 SCV001141117 benign Hereditary hyperferritinemia with congenital cataracts 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV001516688 SCV001725001 benign Hereditary hyperferritinemia with congenital cataracts; Neuroferritinopathy 2021-12-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000369896 SCV001933662 benign Hereditary hyperferritinemia with congenital cataracts 2021-08-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001701526 SCV001933664 benign L-ferritin deficiency 2021-08-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000315169 SCV001933665 benign Neuroferritinopathy 2021-08-10 criteria provided, single submitter clinical testing
TilsonLab,Columbia University RCV000144503 SCV000189822 likely pathogenic sporadic abdominal aortic aneurysm 2014-09-21 no assertion criteria provided research Observed frequency is 15/19 = 0.789 patients with abdominal aortic aneurysm versus heterozygosity is described in "Variation Viewer" as 0.496.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000146000 SCV001744626 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000146000 SCV001807191 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000146000 SCV001954857 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000146000 SCV001975448 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000146000 SCV002034272 benign not specified no assertion criteria provided clinical testing

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