ClinVar Miner

Variants from Clinical Genetics Group, University of Otago

Location: New Zealand  Primary collection method: clinical testing
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
11 0 1 0 0 12

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic uncertain significance total
MYH3 6 1 7
FLNA 5 0 5

Condition and significance breakdown #

Total conditions: 4
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Condition pathogenic uncertain significance total
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A; Spondylocarpotarsal synostosis syndrome 6 1 7
Heterotopia, periventricular, X-linked dominant 3 0 3
Heterotopia, periventricular, X-linked dominant; Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked 1 0 1
Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked 1 0 1

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