Variants studied for Autosomal dominant polycystic kidney disease

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
140	58	401	250	111	955

Gene and significance breakdown #

Total genes and gene combinations: 22

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
PKD2	57	13	251	179	33	530
PKD1	59	41	36	25	69	228
LOC129992813, PKD2	14	0	103	45	8	170
PKHD1	1	0	2	1	0	4
GANAB	1	0	2	0	0	3
IFT140	2	1	0	0	0	3
LOC123477784, LOC129992813, LOC129992814, PKD2	2	0	0	0	0	2
LRP6	0	0	2	0	0	2
MIR1225, PKD1	1	0	0	0	1	2
ABCG2, DMP1, DSPP, FAM13A, GPRIN3, HERC3, HERC5, HERC6, HSD17B11, HSD17B13, IBSP, KLHL8, MEPE, NAP1L5, NUDT9, PIGY, PKD2, PPM1K, PYURF, SNCA, SPARCL1, SPP1, TIGD2	1	0	0	0	0	1
ABCG2, DMP1, DSPP, IBSP, MEPE, PKD2, PPM1K, SPP1	0	0	1	0	0	1
BRICD5, CASKIN1, DNASE1L2, E4F1, MLST8, PGP, PKD1, RAB26, TRAF7	1	0	0	0	0	1
DKK3	0	0	1	0	0	1
DKK3, LOC130005346	0	0	1	0	0	1
DNAJB11	0	1	0	0	0	1
LOC130058212, LOC130058213, MIR3180-5, MIR4516, PKD1	1	0	0	0	0	1
LRP5	0	0	1	0	0	1
MIR1225, PKD1, TSC2	0	1	0	0	0	1
MIR6511B1, PKD1	0	1	0	0	0	1
ONECUT2	0	0	1	0	0	1
PKD1, RAB26	1	0	0	0	0	1
PKD2, SPP1	1	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 11

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	60	10	347	221	38	676
Molecular Genetics of Inherited Kidney Disorders Laboratory, Garvan Institute of Medical Research	19	23	17	24	72	155
Laboratory of Gastroenterology and Hepatology, Radboud University Medical Center	36	15	22	1	0	74
Molecular Genetics, Royal Melbourne Hospital	21	6	9	1	0	37
Department of Pathology and Laboratory Medicine, Sinai Health System	4	0	2	2	3	11
Illumina Laboratory Services, Illumina	1	0	4	1	0	6
Clinical Genetics Laboratory, Skane University Hospital Lund	2	1	0	0	0	3
Human Genetics Bochum, Ruhr University Bochum	0	2	0	0	0	2
MVZ Dr. Eberhard & Partner Dortmund	1	0	0	0	0	1
Clinical Genomics Laboratory, Washington University in St. Louis	0	0	1	0	0	1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital	0	1	0	0	0	1

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