ClinVar Miner

Variants from Clinical Genomics Unit, Sheba Medical Center

Location: Israel  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
3 0 0 0 0 3

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic total
NTNG2 1 1
TECPR2 1 1
TRPS1 1 1

Condition and significance breakdown #

Total conditions: 3
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Condition pathogenic total
Global developmental delay; Areflexia; Generalized hypotonia; Stereotypical hand wringing 1 1
Sensory autonomic neuropathy with intellectual disability 1 1
Trichorhinophalangeal dysplasia type I 1 1

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