ClinVar Miner

Variants studied for Short stature; Cognitive impairment; High palate; Distal arthrogryposis; Anxiety; Brisk reflexes; Dysautonomia; Abnormality of the upper limb; Multiple joint contractures; Dislocated radial head; Abnormality of upper limb joint; Chronic pain; Abnormality of upper limb bone

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 total
1 0 2 0 0 3

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic uncertain significance total
LOC102723833, USH2A 0 1 1
MYH8, MYHAS 0 1 1
USH2A 1 0 1

Submitter and significance breakdown #

Total submitters: 1
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Submitter pathogenic uncertain significance total
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 1 2 3

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