ClinVar Miner

Variants from Manipal Health Enterprises Pvt Ltd, Manipal Hospital

Location: India — 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
0 3 1 0 0 4

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination likely pathogenic uncertain significance total
ATM 1 1 2
INPP5E 1 0 1
SMPD1 1 0 1

Condition and significance breakdown #

Total conditions: 3
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Condition likely pathogenic uncertain significance total
Ataxia-telangiectasia syndrome 1 1 2
Joubert Syndrome and Related Disorders 1 0 1
Niemann-Pick disease, type A 1 0 1

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