Variants studied for Perlman syndrome

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	not provided	total
80	44	1278	804	58	2	2203

Gene and significance breakdown #

Total genes and gene combinations: 8

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
DIS3L2	77	44	1273	804	58	2	2195
DIS3L2, LOC129935854	0	0	2	0	0	0	2
ALPG, ALPI, ALPP, ARMC9, ATG16L1, B3GNT7, C2orf72, CAB39, CHRND, CHRNG, COPS7B, DGKD, DIS3L2, DNAJB3, ECEL1, EFHD1, EIF4E2, GIGYF2, GPR55, HJURP, HTR2B, ITM2C, KCNJ13, MROH2A, NCL, NEU2, NGEF, NMUR1, NPPC, PDE6D, PRSS56, PSMD1, PTMA, SAG, SNORC, SNORD20, SNORD82, SP100, SP110, SP140, SP140L, SPATA3, SPP2, TEX44, TIGD1, TRPM8, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9, USP40	0	0	1	0	0	0	1
DIS3	0	0	1	0	0	0	1
DIS3L2, LOC122861312, MIR562	1	0	0	0	0	0	1
DIS3L2, LOC122861313, LOC129935856, LOC129935857, LOC129935858, LOC129935859, LOC129935860, LOC129935861, MIR562	0	0	1	0	0	0	1
DIS3L2, LOC122861313, LOC129935857, LOC129935858	1	0	0	0	0	0	1
DIS3L2, MIR562	1	0	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 20

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Invitae	75	26	1206	787	50	0	2144
Illumina Laboratory Services, Illumina	0	0	76	7	16	0	99
Sema4, Sema4	0	1	24	22	1	0	48
Baylor Genetics	1	15	16	0	0	0	32
Fulgent Genetics, Fulgent Genetics	0	0	19	1	1	0	21
Revvity Omics, Revvity	0	0	10	0	0	0	10
OMIM	4	0	0	0	0	0	4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	2	0	0	0	2
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	2	2
MGZ Medical Genetics Center	0	0	1	0	0	0	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	1	0	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	0	0	1	0	0	0	1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	1	0	0	0	0	0	1
St. Jude Molecular Pathology, St. Jude Children's Research Hospital	0	0	0	1	0	0	1
Institute of Human Genetics, University Hospital Muenster	0	1	0	0	0	0	1
Genome-Nilou Lab	0	0	0	0	1	0	1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ	0	1	0	0	0	0	1
3billion	0	1	0	0	0	0	1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	1	0	0	0	0	0	1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine	0	0	1	0	0	0	1

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