ClinVar Miner

Variants studied for Noonan syndrome; Cardio-facio-cutaneous syndrome

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
13 10 0 0 0 1 23

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic not provided total
BRAF 8 5 1 13
KRAS 4 3 0 7
MAP2K2 0 2 0 2
MAP2K1 1 0 0 1

Submitter and significance breakdown #

Total submitters: 3
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Submitter pathogenic likely pathogenic not provided total
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 13 9 0 22
Service de Génétique Moléculaire,Hôpital Robert Debré 0 1 0 1
GenomeConnect - CFC International 0 0 1 1

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