ClinVar Miner

Variants studied for Carney complex, type 1

Included ClinVar conditions (5):
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
76 18 436 457 31 8 1005

Gene and significance breakdown #

Total genes and gene combinations: 4
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PRKAR1A 70 18 434 457 31 8 997
FAM20A, PRKAR1A 2 0 2 0 0 0 4
LOC125316783, PRKAR1A 3 0 0 0 0 0 3
MYO15A 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 20
Download table as spreadsheet
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 4 0 0 22
Department of Pathology and Laboratory Medicine, Sinai Health System 1 6 1 0 2 0 10
OMIM 9 0 0 0 0 0 9
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
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
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.