ClinVar Miner

Variants studied for Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J

Coded as:
Minimum submission review status: Collection method:
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Gene type:

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
307 4039 5031 14740 965 25082

Gene and significance breakdown #

Total genes and gene combinations: 28
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
TTN 279 3603 4440 13028 846 22196
LOC101927055, TTN 3 34 44 187 17 285
LOC126806422, TTN 1 55 31 147 6 240
LOC126806423, TTN 4 50 36 128 7 225
LOC126806425, TTN 4 42 26 120 9 201
LOC126806424, TTN 2 39 34 113 7 195
LOC126806430, TTN 0 13 25 137 16 191
LOC126806431, TTN 0 16 29 129 8 182
LOC126806421, TTN 2 31 33 100 7 173
LOC126806427, TTN 2 30 17 102 11 162
LOC129935183, TTN 3 9 109 36 5 162
LOC126806426, TTN 0 28 27 101 3 159
LOC126806420, TTN 2 36 23 81 7 149
LOC126806433, TTN 2 24 17 104 2 149
LOC126806428, TTN 1 11 14 111 5 142
LOC126806429, TTN 1 4 20 76 6 107
LOC129935182, TTN 1 8 58 16 0 83
LOC129935184, TTN 0 0 22 13 1 36
LOC129935185, TTN 0 1 17 4 1 23
LOC129935186, TTN 0 2 2 7 0 11
FKBP7, PJVK, PLEKHA3, PRKRA, TTN 0 2 2 0 0 4
CCDC141, FKBP7, PJVK, PLEKHA3, PRKRA, TTN 0 0 1 0 0 1
LOC101927055, LOC126806428, LOC126806429, LOC126806430, LOC126806431, LOC126806432, LOC126806433, TTN 0 0 1 0 0 1
LOC126806420, LOC126806421, LOC129935182, LOC129935183, LOC129935184, LOC129935185, LOC129935186, TTN 0 1 0 0 0 1
LOC126806425, LOC126806426, LOC126806427, TTN 0 0 1 0 0 1
LOC126806428, LOC126806429, LOC126806430, LOC126806431, TTN 0 0 1 0 0 1
LOC126806432, TTN 0 0 0 0 1 1
LOC129388955, TTN 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 1
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 307 4039 5031 14740 965 25082

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