Variants studied for Atrial septal defect 7

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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
73	8	217	117	18	428

Gene and significance breakdown #

Total genes and gene combinations: 4

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
NKX2-5	70	8	217	117	18	425
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, SH3PXD2B, SNORA74B	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: 12

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	56	6	216	114	17	409
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
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
Indiana University School of Medicine, Medical & Molecular Genetics, Indiana University School of Medicine	1	0	0	0	0	1
Neuberg Centre For Genomic Medicine, NCGM	0	1	0	0	0	1
MVZ Medizinische Genetik Mainz	0	0	1	0	0	1

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