ClinVar Miner

Variants from Color Diagnostics, LLC DBA Color Health

Location: United States  Primary collection method: clinical testing
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
4165 1360 36925 26807 2456 71704

Gene and significance breakdown #

Total genes and gene combinations: 129
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
BRCA2 935 82 2589 1596 191 5393
APC 110 18 2254 1225 61 3667
RYR2 2 2 1698 1330 109 3141
ATM 269 79 1453 1014 55 2870
BRCA1 519 70 1085 1024 100 2798
MSH6 205 41 1568 908 49 2771
RYR1 14 21 1394 1017 129 2575
DSP 53 41 1301 795 56 2246
FBN1 13 26 979 810 67 1895
MSH2 133 46 1057 597 55 1888
PALB2 233 33 920 522 29 1737
ATM, C11orf65 166 63 797 552 19 1597
PMS2 118 29 874 493 57 1570
BRIP1 96 56 849 481 16 1498
MYBPC3 93 31 752 574 33 1483
SCN5A 34 34 774 590 46 1478
MLH1 99 60 647 502 42 1350
TSC2 2 3 485 566 185 1241
MYH7 12 32 614 539 41 1238
BARD1 73 22 707 397 22 1221
CDH1 42 13 635 503 28 1221
COL3A1 15 30 568 464 31 1108
LDLR 131 100 443 363 31 1067
MYH11 0 0 553 457 49 1059
CACNA1S 1 1 578 387 62 1029
BAP1 25 10 481 462 20 998
MUTYH 70 39 480 357 15 961
CHEK2 82 51 520 278 8 939
KCNH2 19 18 432 426 36 931
PKP2 46 10 454 348 26 884
DSG2 1 2 534 297 40 874
ATP7B 95 31 406 283 18 833
PCSK9 1 3 446 337 45 826
DSC2 0 0 476 270 17 763
MYH11, NDE1 0 0 421 307 35 763
TP53 44 36 262 369 13 724
STK11 3 4 304 392 16 719
BMPR1A 12 6 362 257 18 655
RET 6 7 285 246 30 574
KCNQ1 63 40 219 228 22 572
RAD51D, RAD51L3-RFFL 26 24 283 225 10 568
RAD51C 41 26 301 181 8 557
SMAD4 8 1 210 267 7 493
TSC1 3 0 218 192 78 491
TMEM43 1 0 300 163 21 485
LMNA 7 4 249 193 13 466
PRKAG2 1 1 234 203 13 452
BRCA1, LOC126862571 89 0 198 128 12 427
PTEN 27 3 178 214 4 426
TGFBR2 1 3 211 174 11 400
CDKN2A 27 15 176 97 10 325
RB1 1 1 135 122 54 313
TNNT2 5 8 155 114 15 297
SMAD3 5 6 131 136 5 283
TGFBR1 1 2 143 106 6 258
TNNI3 1 9 133 95 13 251
TPM1 2 2 91 140 11 246
MEN1 3 2 93 106 11 215
NF2 0 0 83 97 19 199
ACTA2 4 4 89 94 3 194
LOC110121269, SCN5A 3 0 108 73 7 191
LOC126861897, MHRT, MYH7 1 1 104 69 5 180
GLA, RPL36A-HNRNPH2 10 6 88 69 6 179
ACTC1, GJD2-DT 0 0 59 117 2 178
MYL3 0 4 94 61 11 170
LOC126806068, RYR2 0 0 107 56 5 168
MYL2 0 0 93 58 5 156
SDHB 13 5 76 28 15 137
MHRT, MYH7 0 2 55 55 4 116
LOC126806067, RYR2 0 0 79 24 6 109
LOC126861898, MYH7 4 9 44 41 5 103
VHL 1 2 57 36 5 101
WT1 0 0 43 43 12 98
SDHAF2 4 8 54 25 6 97
OTC 3 2 43 39 9 96
LOC130062899, STK11 0 0 40 35 3 78
SDHD 4 4 28 21 5 62
SDHC 5 4 32 17 3 61
LOC126862902, RYR1 0 0 38 16 6 60
APOB 2 0 3 19 33 57
LOC107303340, VHL 1 2 32 22 0 57
KCNQ1, KCNQ1OT1 4 0 28 20 2 54
MUTYH, TOE1 0 0 32 15 1 48
LOC129390903, RAD51C 5 2 29 9 0 45
LOC114827850, MYL2 1 1 22 12 5 41
DSC2, DSCAS 0 0 20 14 1 35
LOC129933707, MSH6 1 1 7 25 1 35
FBN1, LOC113939944 0 1 18 13 1 33
LMNA, LOC126805877 0 0 18 13 2 33
FBN1, LOC126862124 0 0 18 12 1 31
DSG2, LOC130062340 0 0 19 10 1 30
LOC126860438, NBN 3 0 14 11 2 30
CDKN2A, LOC130001603 1 0 19 6 2 28
COL3A1, LOC126806446 1 0 10 12 2 25
APOB, LOC106560211 0 0 13 8 2 23
LOC126861897, MYH7 0 0 19 4 0 23
LOC129391106, RYR1 0 0 10 11 0 21
LOC129999660, PRKAG2 0 0 5 14 1 20
LDLR, MIR6886 2 2 4 10 1 19
LMNA, LOC129931597 0 0 8 10 1 19
LOC130057352, SMAD3 1 0 10 5 2 18
FBN1, LOC130057019 0 0 10 4 2 16
PKD1, TSC2 0 0 1 4 11 16
LOC130061310, RAD51C 0 1 6 6 0 13
APOB, APOB3'MAR 0 0 8 3 1 12
LOC126861339, SDHD 1 0 5 4 1 11
KCNK12, MSH2 0 0 1 2 6 9
APC, LOC129994371 1 0 5 1 0 7
ATP7B, LOC130009838 1 0 3 3 0 7
LOC106736614, RET 0 0 5 2 0 7
LOC107982234, WT1 0 0 0 0 5 5
LOC129929542, SDHB 1 0 3 1 0 5
BRCA2, LOC106721785 0 0 2 2 0 4
CDH1, LOC130059290 0 0 4 0 0 4
BRCA1, LOC111589215 0 0 1 1 0 2
COL3A1, MIR3606 0 0 0 2 0 2
FBXO11, MSH6 0 0 0 1 1 2
LOC130057222, TPM1 0 0 0 2 0 2
RB1, RB1-DT 0 0 1 0 1 2
ALG11, ATP7B 0 1 0 0 0 1
BAP1, PHF7 0 0 1 0 0 1
CDK4 1 0 0 0 0 1
DCTN5, PALB2 1 0 0 0 0 1
DSC2, DSG2 0 0 0 1 0 1
GLA, HNRNPH2, RPL36A-HNRNPH2 1 0 0 0 0 1
LOC130058210, TSC2 0 0 1 0 0 1
LRRFIP2, MLH1 0 0 0 0 1 1
MITF 0 1 0 0 0 1
POLE 0 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 19
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Hereditary cancer-predisposing syndrome 3465 832 19352 13155 882 37684
Cardiomyopathy 230 159 7737 5622 462 14210
Familial thoracic aortic aneurysm and aortic dissection 41 72 3161 2596 215 6085
Cardiac arrhythmia 123 92 1561 1337 113 3226
Malignant hyperthermia, susceptibility to, 1 14 21 1442 1044 135 2656
Familial hypercholesterolemia 136 105 912 712 62 1927
Tuberous sclerosis syndrome 5 3 705 762 274 1749
Malignant hyperthermia, susceptibility to, 5 1 1 578 387 62 1029
Wilson disease 96 32 409 286 18 841
Multiple endocrine neoplasia, type 2 6 7 290 248 30 581
Hereditary pheochromocytoma and paraganglioma 28 21 198 96 30 373
Retinoblastoma 1 1 136 122 55 315
Multiple endocrine neoplasia, type 1 3 2 93 106 11 215
Neurofibromatosis, type 2 0 0 83 97 19 199
Fabry disease 11 6 88 69 6 180
Von Hippel-Lindau syndrome 2 4 89 58 5 158
Wilms tumor 1 0 0 43 43 17 103
Ornithine carbamoyltransferase deficiency 3 2 43 39 9 96
Hypercholesterolemia, familial, 1 0 0 5 30 52 86

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