ClinVar Miner

Variants in gene combination CHAT, SLC18A3

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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
2 3 5 9 7 24

Condition and significance breakdown #

Total conditions: 3
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 0 3 0 9 6 18
Myasthenic syndrome, congenital, 21, presynaptic 2 0 5 0 0 6
Familial infantile myasthenia 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 6
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 0 0 0 9 6 15
Baylor Genetics 0 0 4 0 0 4
GeneDx 0 3 0 0 0 3
OMIM 2 0 0 0 0 2
Mendelics 0 0 0 0 1 1
Broad Institute Rare Disease Group, Broad Institute 0 0 1 0 0 1

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