ClinVar Miner

Variants from Cohesion Phenomics

Location: United States  Primary collection method: clinical testing
Minimum submission review status: Collection method:
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Gene type:
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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
0 0 0 44 208 251

Gene and significance breakdown #

Total genes and gene combinations: 43
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Gene or gene combination likely benign benign total
MYH7 0 25 25
MYBPC3 4 18 22
APOB 6 11 17
DSP 1 15 16
PCSK9 0 12 12
LDLR 1 10 11
DSG2 1 9 10
FBN1 6 4 10
TNNT2 0 9 9
SCN5A 0 8 8
MHRT, MYH7 0 7 7
PRKAG2 1 6 7
COL3A1 0 6 6
JUP 0 6 6
PKP2 3 3 6
KCNH2 0 5 5
LMNA 0 5 5
MYL2 1 4 5
TMEM43 0 5 5
DNAAF3, TNNI3 0 4 4
DSC2 0 4 4
KCNQ1 4 0 4
LAMP2 2 2 4
RBM20 0 4 4
TPM1 2 3 4
CASQ2 3 0 3
CASQ2, VANGL1 3 0 3
GLA, RPL36A-HNRNPH2 1 2 3
LOC110121269, SCN5A 0 3 3
LOC126861897, MHRT, MYH7 0 3 3
TGFBR2 0 3 3
TNNI3 0 3 3
ACTC1, GJD2-DT 2 0 2
SMAD3 0 2 2
TTR 0 2 2
ACTA2 0 1 1
APOB, LOC106560211 0 1 1
DSC2, DSCAS 0 1 1
LMNA, LOC126805877 1 0 1
LOC114827850, MYL2 0 1 1
MYL3 1 0 1
RYR2 1 0 1
TGFBR1 0 1 1

Condition and significance breakdown #

Total conditions: 10
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Condition likely benign benign total
Hypertrophic cardiomyopathy 14 68 82
Cardiomyopathy 5 63 68
Familial hypercholesterolemia 7 34 41
Primary dilated cardiomyopathy 1 20 21
Long QT syndrome 4 6 10
Marfan syndrome 6 4 10
Catecholaminergic polymorphic ventricular tachycardia 7 0 7
Thoracic aortic aneurysm 0 7 7
Ehlers-Danlos syndrome, type 4 0 6 6
Congestive heart failure 0 3 3

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