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
104	47	325	204	110	787

Gene and significance breakdown #

Total genes and gene combinations: 17

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
PKD2	49	13	205	142	32	438
PKD1	38	34	28	24	69	193
LOC129992813, PKD2	10	0	82	37	8	137
PKHD1	1	0	2	1	0	4
GANAB	1	0	2	0	0	3
LOC123477784, LOC129992813, LOC129992814, PKD2	2	0	0	0	0	2
LRP6	0	0	2	0	0	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
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
LOC130058212, LOC130058213, MIR3180-5, MIR4516, PKD1	1	0	0	0	0	1
LRP5	0	0	1	0	0	1
MIR1225, PKD1	0	0	0	0	1	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: 8

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Invitae	50	10	280	176	37	553
Molecular Genetics of Inherited Kidney Disorders Laboratory, Garvan Institute of Medical Research	16	20	17	24	72	149
Laboratory of Gastroenterology and Hepatology, Radboud University Medical Center	36	15	22	1	0	74
Department of Pathology and Laboratory Medicine, Sinai Health System	4	0	2	2	3	11
Illumina Laboratory Services, Illumina	0	0	4	1	0	5
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

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