ClinVar Miner

Variants studied for Riley-Day syndrome

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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
9 111 422 114 49 3 665

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 9 111 422 114 49 3 665

Submitter and significance breakdown #

Total submitters: 23
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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
Fulgent Genetics, Fulgent Genetics 3 12 95 35 1 0 146
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 6 10 0 0 0 0 16
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
Labcorp Genetics (formerly Invitae), Labcorp 0 2 1 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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1
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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