ClinVar Miner

Variants from Agnes Ginges Centre for Molecular Cardiology,Centenary Institute

Location: Australia — Primary collection method: research
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
31 13 50 10 5 109

Gene and significance breakdown #

Total genes and gene combinations: 30
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
MYH7 18 7 16 1 1 43
MYBPC3 10 0 9 1 0 20
TNNT2 0 1 5 0 0 6
SCN5A 2 1 1 1 0 5
KCNH2 0 1 0 2 0 3
MHRT, MYH7 0 0 3 0 0 3
ACTN2 0 0 2 0 0 2
CACNA1C 0 1 1 0 0 2
DSP 0 0 1 0 1 2
MYH6 1 0 1 0 0 2
TTN 0 0 1 1 0 2
AKAP9 0 0 0 0 1 1
CSRP3 0 0 1 0 0 1
GLA, RPL36A-HNRNPH2 0 0 0 1 0 1
KCNA5 0 0 0 0 1 1
KCNE1 0 0 1 0 0 1
KCNQ1 0 1 0 0 0 1
LAMA4, LOC101927640 0 0 1 0 0 1
LDB3 0 0 1 0 0 1
LMNA 0 0 1 0 0 1
LOC114827850, MYL2 0 0 0 1 0 1
MYL2 0 0 1 0 0 1
MYL3 0 1 0 0 0 1
NEXN 0 0 1 0 0 1
RYR2 0 0 1 0 0 1
SCN1B 0 0 0 1 0 1
SGCD 0 0 0 1 0 1
TCAP 0 0 0 0 1 1
TNNI3 0 0 1 0 0 1
TPM1 0 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Familial hypertrophic cardiomyopathy 1 29 10 42 5 2 88
Brugada syndrome 2 1 1 0 0 4
Sudden unexplained death 0 0 1 3 0 4
Brugada syndrome 1 0 0 1 0 2 3
Long QT syndrome 1 0 2 0 1 0 3
Ventricular fibrillation, idiopathic 0 0 2 0 0 2
Arrhythmogenic right ventricular cardiomyopathy; Brugada syndrome; Sudden unexplained death 0 0 1 0 0 1
Arrhythmogenic right ventricular cardiomyopathy; Sudden unexplained death 0 0 0 0 1 1
Arrhythmogenic right ventricular dysplasia, familial 1 0 0 1 0 0 1
Long QT syndrome 0 0 0 1 0 1
Primary dilated cardiomyopathy; Sudden cardiac death 0 0 1 0 0 1

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