ClinVar Miner

Variants studied for 2-aminoadipic 2-oxoadipic aciduria; Charcot-Marie-Tooth disease axonal type 2Q

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
0 2 0 1 0 1 4

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination likely pathogenic likely benign not provided total
DHTKD1 2 1 1 4

Submitter and significance breakdown #

Total submitters: 3
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Submitter likely pathogenic likely benign not provided total
Fulgent Genetics, Fulgent Genetics 1 1 0 2
GenomeConnect, ClinGen 0 0 1 1
Molecular Genetics Lab, CHRU Brest 1 0 0 1

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