ClinVar Miner

Variants studied for Carney complex

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
77 19 441 462 32 8 1018

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PRKAR1A 70 18 434 457 31 8 997
MYH8, MYHAS 1 1 5 3 0 0 10
FAM20A, PRKAR1A 2 0 2 0 0 0 4
LOC125316783, PRKAR1A 3 0 0 0 0 0 3
LOC126862494, MYH8, MYHAS 0 0 0 1 1 0 2
LOC126862493, MYH8, MYHAS 0 0 0 1 0 0 1
MYO15A 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 67 11 383 454 18 0 933
Illumina Laboratory Services, Illumina 0 0 47 3 15 0 65
Fulgent Genetics, Fulgent Genetics 1 2 15 7 0 0 25
Department of Pathology and Laboratory Medicine, Sinai Health System 1 6 3 2 2 0 14
OMIM 10 0 0 0 0 0 10
GeneReviews 1 0 0 0 0 5 6
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 5 0 0 0 5
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
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Medical and Scientific Branch, Hong Kong Genome Institute 2 0 0 0 0 0 2
3billion 0 0 1 0 0 0 1
Baylor Genetics 0 0 1 0 0 0 1
CSER _CC_NCGL, University of Washington 0 0 1 0 0 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
Mendelics 0 0 0 1 0 0 1
Molecular Pathology, Peter Maccallum Cancer Centre 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 1

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