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 total
17 0 91 13 25 146

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic uncertain significance likely benign benign total
SARM1, SLC46A1 4 72 9 23 108
SLC46A1 13 19 4 2 38

Submitter and significance breakdown #

Total submitters: 6
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Submitter pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 91 13 25 129
GeneReviews 16 0 0 0 16
OMIM 10 0 0 0 10
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 1 0 1
Fulgent Genetics,Fulgent Genetics 0 1 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 1 0 1

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