Variants studied for Familial dysautonomia

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
8	102	405	93	49	3	620

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	not provided	total
ELP1	8	102	405	93	49	3	620

Submitter and significance breakdown #

Total submitters: 22

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Natera, Inc.	1	9	284	74	29	0	397
Illumina Laboratory Services, Illumina	1	0	117	13	24	0	155
Counsyl	0	42	24	6	0	0	72
Myriad Genetics, Inc.	1	47	0	0	0	0	48
Genome-Nilou Lab	0	1	8	3	25	0	37
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	5	8	0	0	0	0	13
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	0	6	2	1	0	9
Genome Diagnostics Laboratory, University Medical Center Utrecht	0	0	0	2	4	0	6
Baylor Genetics	1	1	2	0	0	0	4
OMIM	3	0	0	0	0	0	3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	1	2	0	0	0	0	3
Invitae	0	2	1	0	0	0	3
Fulgent Genetics, Fulgent Genetics	2	1	0	0	0	0	3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	2	0	0	0	1	0	3
Revvity Omics, Revvity	1	0	1	0	0	0	2
Mendelics	0	0	0	0	2	0	2
GeneReviews	0	0	0	0	0	2	2
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	1	0	0	0	1
GeneID Lab - Advanced Molecular Diagnostics	0	1	0	0	0	0	1
Genomic Medicine Lab, University of California San Francisco	0	0	1	0	0	0	1
Reproductive Health Research and Development, BGI Genomics	1	0	0	0	0	0	1
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	1	1

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