ClinVar Miner

Variants studied for Riley-Day syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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Gene type:
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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
4 44 154 53 22 251

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
ELP1 4 44 154 53 22 251

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 3 2 80 20 19 124
Illumina Clinical Services Laboratory,Illumina 1 0 63 25 1 90
Counsyl 1 41 24 6 0 72
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 2 4 6
OMIM 3 0 0 0 0 3
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 2 0 0 0 1 3
Integrated Genetics/Laboratory Corporation of America 1 1 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 1
Fulgent Genetics 1 0 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
GeneID Lab - Advanced Molecular Diagnostics 0 1 0 0 0 1

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