ClinVar Miner

Variants studied for Cerebral folate transport deficiency

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
17 3 113 83 5 211

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
FOLR1 16 3 112 83 5 209
ANAPC15, DEFB108B, DHCR7, FAM86C1P, FOLR1, FOLR3, IL18BP, KRTAP5-10, KRTAP5-11, KRTAP5-7, KRTAP5-8, KRTAP5-9, LAMTOR1, LRTOMT, NADSYN1, NUMA1, RNF121, ZNF705E 0 0 1 0 0 1
CLPB, FOLR1, FOLR2, INPPL1, PHOX2A 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 11 3 98 80 5 197
Illumina Laboratory Services, Illumina 0 0 13 3 1 17
OMIM 4 0 0 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 1 3
Fulgent Genetics, Fulgent Genetics 0 0 2 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 1 2
Baylor Genetics 0 0 1 0 0 1
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 1
Revvity Omics, Revvity 1 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 1
Mendelics 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 0 1 1
SingHealth Duke-NUS Institute of Precision Medicine 0 0 1 0 0 1
Biochemistry and Molecular Biology, CHU de Limoges 1 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 1
Igenomix - Part of Vitrolife Group, Igenomix 0 0 1 0 0 1
Centre de Recherche et de Formation en Génétique Médicale et en Neurosciences, Université des Sciences, des Techniques et des Technologies de Bamako 0 0 1 0 0 1

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