ClinVar Miner

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

Coded as:
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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
171 2071 5367 11393 947 19949

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 158 1835 4752 10065 830 17640
LOC101927055, TTN 1 3 63 144 17 228
LOC126806422, TTN 1 38 31 116 6 192
LOC126806423, TTN 3 29 35 102 7 176
LOC126806425, TTN 1 33 26 93 8 161
LOC126806424, TTN 2 29 34 88 7 160
LOC126806430, TTN 0 1 25 111 16 153
LOC126806421, TTN 1 25 31 86 7 150
LOC126806431, TTN 0 1 40 100 7 148
LOC126806426, TTN 0 21 26 81 3 131
LOC126806427, TTN 1 3 39 70 11 124
LOC126806420, TTN 0 27 22 66 7 122
LOC129935183, TTN 2 9 79 26 5 121
LOC126806428, TTN 0 1 23 85 5 114
LOC126806433, TTN 0 3 34 75 2 114
LOC126806429, TTN 0 0 24 53 6 83
LOC129935182, TTN 1 7 43 13 0 64
LOC129935184, TTN 0 0 18 9 1 28
LOC129935185, TTN 0 1 13 4 1 19
LOC129935186, TTN 0 2 2 6 0 10
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 171 2071 5367 11393 947 19949

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