Variants studied for epsilon-trimethyllysine hydroxylase deficiency

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	risk factor	not provided	total
1	1	6	0	0	5	2	14

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	risk factor	not provided	total
TMLHE	1	1	6	4	2	13
SPRY3, TMLHE	0	0	0	1	0	1

Submitter and significance breakdown #

Total submitters: 12

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Submitter	pathogenic	likely pathogenic	uncertain significance	risk factor	not provided	total
OMIM	0	0	0	5	0	5
Baylor Genetics	1	0	0	0	0	1
MGZ Medical Genetics Center	0	0	1	0	0	1
Mendelics	1	0	0	0	0	1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	0	1	0	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	0	0	1	0	0	1
GenomeConnect, ClinGen	0	0	0	0	1	1
Juno Genomics, Hangzhou Juno Genomics, Inc	0	0	1	0	0	1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	0	0	1	0	0	1
New York Genome Center	0	0	1	0	0	1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn	0	0	1	0	0	1
GenomeConnect - Brain Gene Registry	0	0	0	0	1	1

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