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
270 3497 4793 13182 956 22698

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 248 3116 4231 11643 838 20076
LOC101927055, TTN 3 27 43 168 17 258
LOC126806422, TTN 1 44 31 129 6 211
LOC126806423, TTN 3 38 36 117 7 201
LOC126806425, TTN 2 39 26 109 9 185
LOC126806424, TTN 2 36 34 104 7 183
LOC126806430, TTN 0 11 24 124 16 175
LOC126806431, TTN 0 14 29 118 7 168
LOC126806421, TTN 1 29 31 92 7 160
LOC126806426, TTN 0 27 27 94 3 151
LOC129935183, TTN 2 10 100 33 5 150
LOC126806427, TTN 2 27 17 87 11 144
LOC126806420, TTN 1 30 22 74 7 134
LOC126806433, TTN 2 21 17 90 2 132
LOC126806428, TTN 1 11 14 99 5 130
LOC126806429, TTN 1 3 20 66 6 96
LOC129935182, TTN 1 8 48 14 0 71
LOC129935184, TTN 0 0 19 11 1 31
LOC129935185, TTN 0 1 15 4 1 21
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 270 3497 4793 13182 956 22698

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