Variants studied for Pontoneocerebellar hypoplasia

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
18	37	141	35	52	283

Gene and significance breakdown #

Total genes and gene combinations: 21

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
TSEN54	3	3	39	7	16	68
TSEN2	2	5	41	4	12	64
TSEN34	0	0	38	7	17	62
LOC129936171, TSEN2	0	0	12	6	3	21
RARS2	3	12	1	0	0	16
EXOSC3	2	5	0	1	0	8
RARS2, SLC35A1	0	0	0	5	3	8
VPS53	1	6	0	0	0	7
SEPSECS	1	0	3	2	0	6
LOC112533671, TSEN54	0	0	2	1	1	4
LOC129992331, SEPSECS	0	0	3	1	0	4
TBC1D23	3	0	0	0	0	3
VRK1	1	1	1	0	0	3
LOC130056407, VRK1	0	0	1	1	0	2
AMPD2	0	1	0	0	0	1
AMPD2, LOC126805822	1	0	0	0	0	1
CHMP1A	0	1	0	0	0	1
CLP1	0	1	0	0	0	1
LOC126862456, VPS53	0	1	0	0	0	1
LOC129992330, SEPSECS	0	1	0	0	0	1
MINPP1	1	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 6

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Illumina Laboratory Services, Illumina	1	0	140	35	52	228
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	14	35	0	0	0	49
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	1	2	0	0	0	3
Chelly Lab, Institut de Génétique et de Biologie Moléculaire et Cellulaire, Strasbourg University - CNRS UMR 7104 - Inserm U 964	3	0	0	0	0	3
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences	1	0	0	0	0	1
Section for Clinical Neurogenetics, University of Tübingen	0	0	1	0	0	1

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