ClinVar Miner

Variants studied for hereditary folate malabsorption

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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 not provided total
13 3 97 14 25 8 154

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SARM1, SLC46A1 4 1 72 10 23 4 111
SLC46A1 8 1 19 4 2 4 35
LOC130060550, SLC46A1 1 1 4 0 0 0 6
LOC130060548, SARM1, SLC46A1 0 0 2 0 0 0 2

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 91 13 25 0 129
OMIM 10 0 0 0 0 0 10
GeneReviews 0 0 0 0 0 8 8
Fulgent Genetics, Fulgent Genetics 0 1 5 0 0 0 6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 1 0 0 0 0 3
Baylor Genetics 1 0 1 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 0 2
3billion 1 0 0 1 0 0 2
Revvity Omics, Revvity 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 0 1 0 0 0 0 1

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