ClinVar Miner

Variants from GOLD service, Hunter New England Health

Location: Australia — 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
19 6 6 0 0 31

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
CLCN4 10 0 1 11
THOC2 2 3 5 10
ATN1 3 1 0 4
MAOA 2 0 0 2
KCNT2 1 0 0 1
SLC9A7 0 1 0 1
TCF20 0 1 0 1
ZSWIM6 1 0 0 1

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance total
CLCN4-related disorder 10 0 1 11
Mental retardation, X-linked 12 2 3 5 10
Congenital ATN1 related disorder 3 1 0 4
Monoamine oxidase A deficiency 2 0 0 2
KCNT2-related condition 1 0 0 1
SLC9A7-related neurodevelopmental disorder 0 1 0 1
TCF20-related condition 0 1 0 1
ZSWIM6 related intellectual disability 1 0 0 1

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