Variants in gene VPS41 - ClinVar Miner

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
6	2	80	8	46	140

Condition and significance breakdown #

Total conditions: 5

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Condition	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Inborn genetic diseases	0	0	68	2	1	71
not provided	0	0	12	6	45	63
Spinocerebellar ataxia, autosomal recessive 29	6	1	2	0	0	9
Hyperimmunoglobulin D with periodic fever	0	1	0	0	0	1
VPS41-related condition	0	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 11

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Ambry Genetics	0	0	68	2	1	71
GeneDx	0	0	8	0	43	51
CeGaT Center for Human Genetics Tuebingen	0	0	3	6	2	11
OMIM	6	0	0	0	0	6
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	1	1	0	0	2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	0	1	0	0	1
PreventionGenetics, part of Exact Sciences	0	0	1	0	0	1
Labcorp Genetics (formerly Invitae), Labcorp	0	0	0	0	1	1
Bionano Laboratories	0	0	1	0	0	1
Quest Diagnostics Nichols Institute San Juan Capistrano	0	0	1	0	0	1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	1	0	0	0	1

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