ClinVar Miner

Variants studied for Carney complex

Included ClinVar conditions (6):
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
62 9 379 391 38 7 866

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PRKAR1A 56 9 375 387 37 7 851
MYH8, MYHAS 1 0 4 3 0 0 8
FAM20A, PRKAR1A 2 0 0 1 0 0 3
LOC125316783, PRKAR1A 3 0 0 0 0 0 3
LOC126862494, MYH8, MYHAS 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 53 8 325 374 18 0 778
Illumina Laboratory Services, Illumina 0 0 50 12 22 0 84
Fulgent Genetics, Fulgent Genetics 1 1 9 7 0 0 18
OMIM 9 0 0 0 0 0 9
GeneReviews 1 0 0 0 0 5 6
Genome-Nilou Lab 0 0 0 0 4 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 1 0 3
Mendelics 0 0 1 1 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Baylor Genetics 0 0 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
CSER _CC_NCGL, University of Washington 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 1
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 1

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