ClinVar Miner

Variants studied for Hereditary insensitivity to pain with anhidrosis

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 not provided total
30 8 124 42 18 1 203

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
NTRK1 30 8 122 42 18 1 201
INSRR, NTRK1 0 0 2 0 0 0 2

Submitter and significance breakdown #

Total submitters: 8
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 10 5 98 30 16 0 159
Illumina Clinical Services Laboratory,Illumina 0 0 27 11 2 0 40
OMIM 14 0 0 0 0 0 14
GeneReviews 6 0 0 0 2 0 8
Counsyl 0 2 3 1 1 0 7
Baylor Miraca Genetics Laboratories, 1 1 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 0 0 1 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1

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