ClinVar Miner

Variants studied for atrial defect and interatrial communication

Included ClinVar conditions (53):
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
68 28 287 73 20 468

Gene and significance breakdown #

Total genes and gene combinations: 45
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ACTC1, GJD2-DT 7 2 133 38 4 183
NKX2-5 32 4 81 30 13 156
MYH6 1 0 24 1 1 27
TBX20 3 0 17 1 2 21
GATA4 8 3 5 0 0 16
​intergenic 2 4 3 0 0 9
CITED2 2 1 1 0 0 4
GATA6 1 1 3 0 0 4
TLL1 4 0 0 0 0 4
LOC114827851, MYH6 0 0 3 0 0 3
TBX5 2 1 0 0 0 3
ABCC8 0 2 0 0 0 2
ACTC1 0 0 2 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
ATP6V0E1, BNIP1, BOD1, C5orf58, CPEB4, CREBRF, DOCK2, DUSP1, EFCAB9, ERGIC1, FBXW11, FGF18, FOXI1, GABRP, INSYN2B, KCNIP1, KCNMB1, LCP2, LOC100128059, LOC100288254, MIR103A1, NEURL1B, NKX2-5, NPM1, PANK3, RANBP17, RARS1, RPL26L1, SH3PXD2B, SLIT3, SMIM23, SNORA74B, SPDL1, STC2, STK10, TENM2, TLX3, UBTD2, WWC1 1 0 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
GABRG3 0 0 1 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
MN1 0 0 1 0 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
SMARCA4 0 1 0 0 0 1
SOS1 0 0 1 0 0 1
TAB2 0 1 0 0 0 1
TBXAS1 0 0 1 0 0 1
TPM1 0 1 0 0 0 1
TRPM4 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 39
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 23 4 175 63 16 281
Illumina Clinical Services Laboratory,Illumina 0 0 48 4 0 51
OMIM 31 0 0 0 0 31
Fulgent Genetics,Fulgent Genetics 0 0 14 0 0 14
Centre for Mendelian Genomics,University Medical Centre Ljubljana 3 6 5 0 0 14
Laboratory of Genomics, Instituto Nacional de Cardiología Ignacio Chávez 0 0 13 0 0 13
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 1 2 8 1 0 12
Baylor Genetics 0 2 8 0 0 10
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
Mendelics 0 0 1 2 1 4
Congenital Heart Disease Genetic Program Lab,American University of Beirut 3 0 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 3 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 Genetics Research Group,Karolinska Institutet 0 0 2 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 1 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 1 0 0 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
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 National Research Centre 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
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 1 0 0 1
Laboratory of Research in Genomics, Genetics and Bioinformatics,Hospital Infantil de Mexico Federico Gomez 0 1 0 0 0 1
Undiagnosed Diseases Network,NIH 0 1 0 0 0 1
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 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
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 0 1
Reproductive Health Research and Development,BGI Genomics 0 1 0 0 0 1
Indiana University School of Medicine, Medical & Molecular Genetics, Indiana University School of Medicine 1 0 0 0 0 1
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 0 1 0 0 0 1

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