ClinVar Miner

Variants studied for atrial defect and interatrial communication

Included ClinVar conditions (51):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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
51 21 281 82 17 445

Gene and significance breakdown #

Total genes and gene combinations: 39
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ACTC1, LOC101928174 3 1 121 32 3 156
MYH6 1 0 78 28 1 107
NKX2-5 21 3 36 13 11 83
TBX20 3 0 15 1 2 20
LOC114827851, MYH6 0 0 10 5 0 15
GATA4 8 1 4 0 0 13
​intergenic 2 4 3 0 0 9
GATA6 1 0 2 0 0 3
TBX5 2 1 0 0 0 3
TLL1 3 0 0 0 0 3
ABCC8 0 2 0 0 0 2
CITED2 2 0 0 0 0 2
NEK1 0 0 2 0 0 2
OBSL1 0 0 2 0 0 2
AAR2 0 1 0 0 0 1
ACTL6A 0 1 0 0 0 1
CHD7 0 1 0 0 0 1
COL5A2 0 0 1 0 0 1
CREBBP 0 1 0 0 0 1
DIPK1A, RPL5 1 0 0 0 0 1
DMD 1 0 0 0 0 1
ERF 0 0 1 0 0 1
FGF14 0 1 0 0 0 1
FLNC 1 0 0 0 0 1
HDAC8 0 1 0 0 0 1
HUWE1 0 0 1 0 0 1
LOC114827851, MYH6, MYH7 0 0 0 1 0 1
MYH6, MYH7 0 0 0 1 0 1
MYLK 0 0 1 0 0 1
NSD1 1 0 0 0 0 1
PKD1 0 0 1 0 0 1
PTPN11 1 0 0 0 0 1
RNF213 0 0 1 0 0 1
RYR1 0 0 1 0 0 1
SETBP1 0 1 0 0 0 1
SOS1 0 0 1 0 0 1
TAB2 0 1 0 0 0 1
TPM1 0 1 0 0 0 1
TRPM4 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 149 49 0 197
Invitae 6 3 88 29 14 140
OMIM 31 0 0 0 0 31
Fulgent Genetics,Fulgent Genetics 0 0 14 0 0 14
Laboratory of Genomics, Instituto Nacional de Cardiología Ignacio Chávez 0 0 13 0 0 13
Centre for Mendelian Genomics,University Medical Centre Ljubljana 3 6 3 0 0 12
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 1 2 8 1 0 12
Talkowski Laboratory, Center for Human Genetic Research,Massachusetts General Hospital 2 4 3 0 0 9
Integrated Genetics/Laboratory Corporation of America 1 0 0 2 1 4
Congenital Heart Disease Genetic Program Lab,American University of Beirut 3 0 0 0 0 3
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 1 1 1 3
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 1 0 2 3
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 0 2 0 0 0 2
Phosphorus, Inc. 0 0 1 0 1 2
Embryology Laboratory,Victor Chang Cardiac Research Institute 2 0 0 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 1 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 1
Blueprint Genetics, 0 0 1 0 0 1
Center for Medical Genetics Ghent,University of Ghent 1 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 1 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 1
Choi Lab,Seoul National University 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 1
School of Life Sciences,Manipal University 1 0 0 0 0 1
Petrovsky Russian Research Center of Surgery, The Federal Agency for Scientific Organizations 1 0 0 0 0 1
Department of Medical Genetics,Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 1 0 0 0 1
Laboratory of Research in Genomics, Genetics and Bioinformatics,Hospital Infantil de Mexico Federico Gomez 0 1 0 0 0 1
Guangdong Provincial Key Laboratory of South China Structural Heart Disease,Guangdong Cardiovascular Institute 0 1 0 0 0 1

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