ClinVar Miner

Variants studied for Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9

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
20 56 1061 140 18 7 1302

Gene and significance breakdown #

Total genes and gene combinations: 19
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TTN 19 53 940 121 16 7 1156
LOC101927055, TTN 0 0 10 3 1 0 14
LOC126806423, TTN 1 1 10 1 1 0 14
LOC126806424, TTN 0 0 9 4 0 0 13
LOC126806421, TTN 0 1 11 0 0 0 12
LOC126806422, TTN 0 0 9 3 0 0 12
LOC126806425, TTN 0 0 11 1 0 0 12
LOC126806428, TTN 0 0 10 1 0 0 11
LOC126806432, TTN 0 0 10 1 0 0 11
LOC126806431, TTN 0 0 9 0 0 0 9
LOC126806433, TTN 0 0 7 0 0 0 7
LOC126806420, TTN 0 0 5 1 0 0 6
LOC129935183, TTN 0 0 5 0 0 0 5
LOC126806426, TTN 0 0 3 1 0 0 4
LOC126806427, TTN 0 0 3 1 0 0 4
LOC126806429, TTN 0 0 4 0 0 0 4
LOC126806430, TTN 0 0 3 1 0 0 4
LOC129935182, TTN 0 1 2 0 0 0 3
LOC129935185, TTN 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 7
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 15 55 1057 140 18 0 1285
Baylor Genetics 3 0 4 0 0 0 7
GenomeConnect, ClinGen 0 0 0 0 0 5 5
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 3 0 0 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 0 0 0 0 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 2 2
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.