ClinVar Miner

Variants studied for Charcot-Marie-Tooth disease, type IA

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
14 1 0 0 0 15

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic total
PMP22 10 1 11
CDRT15, CDRT4, COX10, HS3ST3B1, PMP22, TEKT3, TVP23C, TVP23C-CDRT4 2 0 2
CDRT1, CDRT15, CDRT4, COX10, HS3ST3B1, PMP22, TEKT3, TRIM16, TVP23C, TVP23C-CDRT4, ZNF286A 1 0 1
CDRT1, CDRT15, CDRT4, COX10, HS3ST3B1, PMP22, TEKT3, TVP23C, TVP23C-CDRT4 1 0 1

Submitter and significance breakdown #

Total submitters: 5
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Submitter pathogenic likely pathogenic total
OMIM 6 0 6
Athena Diagnostics Inc 3 1 4
GeneReviews 4 0 4
Baylor Miraca Genetics Laboratories, 3 0 3
Undiagnosed Diseases Network,NIH 1 0 1

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