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

gnomAD frequency: 0.51379  dbSNP: rs2230267

Total submissions: 19

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, part of Exact Sciences	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
Labcorp Genetics (formerly Invitae), Labcorp	RCV001516688	SCV001725001	benign	Hereditary hyperferritinemia with congenital cataracts; Neuroferritinopathy	2024-01-31	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
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	RCV000146000	SCV005091891	benign	not specified	2024-07-31	criteria provided, single submitter	clinical testing	This variant is classified as Benign based on local population frequency. This variant was detected in 74% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy, Progressive Myoclonus Epilepsy and Abnormal Movements and Neurodegeneration with brain iron accumulation. Number of patients: 69. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics	RCV000839535	SCV005306859	benign	not provided		criteria provided, single submitter	not provided
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