ClinVar Miner

Variants studied for Carney complex, type 1

Coded as:
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
61 9 371 377 31 5 840

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PRKAR1A 56 9 371 377 31 5 835
LOC125316783, PRKAR1A 3 0 0 0 0 0 3
FAM20A, PRKAR1A 2 0 0 0 0 0 2

Submitter and significance breakdown #

Total submitters: 10
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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 47 3 15 0 65
OMIM 8 0 0 0 0 0 8
GeneReviews 1 0 0 0 0 5 6
Genome-Nilou Lab 0 0 0 0 4 0 4
Mendelics 0 0 1 1 0 0 2
Baylor Genetics 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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