ClinVar Miner

Variants studied for Costello syndrome

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
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
15 6 62 34 7 121

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
HRAS, LRRC56 15 6 59 34 7 118
BRAF 0 0 1 0 0 1
HRAS 0 0 1 0 0 1
TNNT2 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 13
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 3 1 56 34 7 101
OMIM 13 0 0 0 0 13
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 7 5 0 0 0 12
ClinGen RASopathy Variant Curation Expert Panel 3 1 2 0 0 6
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 4 0 1 0 0 5
Blueprint Genetics, 2 1 1 0 0 4
Service de Génétique Moléculaire,Hôpital Robert Debré 0 0 3 0 0 3
Center for Human Genetics, Inc 1 0 1 0 0 2
Integrated Genetics/Laboratory Corporation of America 1 1 0 0 0 2
Baylor Genetics 1 0 0 0 0 1
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 1 0 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 0 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 0 0 0 0 1

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