ClinVar Miner

Variants studied for Congenital defect of folate absorption

Coded as:
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
11 1 97 13 25 8 149

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 3 0 72 9 23 4 108
SLC46A1 7 1 19 4 2 4 34
LOC130060550, SLC46A1 1 0 4 0 0 0 5
LOC130060548, SARM1, SLC46A1 0 0 2 0 0 0 2

Submitter and significance breakdown #

Total submitters: 11
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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
Baylor Genetics 1 0 1 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 0 2
Revvity Omics, Revvity Omics 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
3billion 1 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1

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