Variants studied for Hyperekplexia 2

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	4	175	160	44	390

Gene and significance breakdown #

Total genes and gene combinations: 1

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
GLRB	18	4	175	160	44	390

Submitter and significance breakdown #

Total submitters: 12

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	14	4	155	158	14	345
Illumina Laboratory Services, Illumina	0	0	22	1	37	60
OMIM	4	0	0	0	0	4
Fulgent Genetics, Fulgent Genetics	0	0	1	2	0	3
GeneReviews	2	0	0	0	0	2
Genome-Nilou Lab	0	0	0	0	2	2
Genome Diagnostics Laboratory, University Medical Center Utrecht	0	0	0	1	0	1
Mendelics	1	0	0	0	0	1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	0	1	0	0	1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	0	0	0	1	0	1
Savagenome Genetic Health Clinic, Tarbiat Modares University	1	0	0	0	0	1
Breakthrough Genomics, Breakthrough Genomics	0	1	0	0	0	1

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