ClinVar Miner

Variants studied for atrial septal defect 7

Included ClinVar conditions (3):
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
71 8 219 117 18 425

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
NKX2-5 69 8 219 117 18 423
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
ATP6V0E1, BNIP1, CREBRF, DUSP1, ERGIC1, NEURL1B, NKX2-5, RPL26L1, SNORA74B, STC2 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 54 6 214 114 17 405
Fulgent Genetics, Fulgent Genetics 0 1 28 4 1 34
OMIM 11 0 0 0 0 11
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 2 0 3
Mendelics 0 0 0 2 1 3
Nemer Genomics and Translation Biomedicine Lab, American University of Beirut 3 0 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 1
Center for Medical Genetics Ghent, University of Ghent 1 0 0 0 0 1
Choi Lab, Seoul National University 0 1 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 1 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 1
Indiana University School of Medicine, Medical & Molecular Genetics, Indiana University School of Medicine 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 1

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