ClinVar Miner

Variants from GenomeConnect - CFC International

Location: United States  Primary collection method: phenotyping only
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
0 0 0 0 0 34 34

Gene and significance breakdown #

Total genes and gene combinations: 13
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Gene or gene combination not provided total
BRAF 15 15
MAP2K1 5 5
SOS1 3 3
MAP2K2 2 2
CHRNA7 1 1
GPHN 1 1
KRAS 1 1
MKRN2, RAF1 1 1
MT-ND4 1 1
RAB3GAP2 1 1
SCN8A 1 1
TUBGCP6 1 1
YWHAZ 1 1

Condition and significance breakdown #

Total conditions: 15
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Condition not provided total
not provided 10 10
Cardio-facio-cutaneous syndrome 7 7
Cardiofaciocutaneous syndrome 1 3 3
Cardiofaciocutaneous syndrome 3 2 2
RASopathy 2 2
Cardiofaciocutaneous syndrome 1; LEOPARD syndrome 3; Noonan syndrome 7 1 1
Cardiofaciocutaneous syndrome 1; Noonan syndrome 1 1 1
Cardiofaciocutaneous syndrome 4 1 1
MAP2K1-Related Disorder 1 1
Martsolf syndrome; Warburg micro syndrome 2 1 1
Microcephaly and chorioretinopathy 1 1 1
Mitochondrial DNA-Associated Leigh Syndrome and NARP 1 1
Noonan syndrome 1 1 1
Noonan syndrome 3 1 1
Noonan syndrome; Cardio-facio-cutaneous syndrome 1 1

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