ClinVar Miner

Variants from Department Of Genetics,Lifeline Super Speciality Hospital, Adoor.

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
3 0 1 0 0 4

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic uncertain significance total
MFN2 0 1 1
NIPBL 1 0 1
SCN4A 1 0 1
TPP1 1 0 1

Condition and significance breakdown #

Total conditions: 4
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Condition pathogenic uncertain significance total
Ceroid lipofuscinosis neuronal 2 1 0 1
Charcot-Marie-Tooth disease, type 2A2A; Hereditary motor and sensory neuropathy with optic atrophy; Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B 0 1 1
Cornelia de Lange syndrome 1 1 0 1
Potassium aggravated myotonia 1 0 1

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