ClinVar Miner

Submissions for variant NM_000146.4(FTL):c.163T>C (p.Leu55=) (rs2230267)

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Total submissions: 9
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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 Clinical Services Laboratory,Illumina RCV000315169 SCV000414210 benign Neuroferritinopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000369896 SCV000414211 benign Hereditary hyperferritinemia with congenital cataracts 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000370536 SCV000483740 benign Glycogen storage disease 0, muscle 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 2020-11-26 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.

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