ClinVar Miner

Variants from Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center

Location: United States — Primary collection method: clinical testing
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 total
36 8 29 1 21 95

Gene and significance breakdown #

Total genes and gene combinations: 13
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
PTPN11 18 2 2 1 4 27
SOS1 5 0 7 0 3 15
KDM6B 0 0 11 0 0 11
BRAF 0 1 3 0 5 9
DYRK1A 7 2 0 0 0 9
RAF1 1 0 3 0 2 6
KRAS 2 0 0 0 3 5
MAP2K1 0 0 1 0 4 5
NRAS 1 0 2 0 0 3
TCF20 0 2 0 0 0 2
CAMK2G 0 1 0 0 0 1
CHAMP1 1 0 0 0 0 1
DSCR4, DSCR8, DYRK1A, ERG, HLCS, KCNJ15, KCNJ6, PIGP, RIPPLY3, SIM2, TTC3, VPS26C 1 0 0 0 0 1

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 28 5 29 1 0 63
not specified 0 0 0 0 21 21
Seizures; Feeding difficulties; Deeply set eye; Microcephaly; Intellectual disability; Absent or delayed speech development 6 1 0 0 0 7
Feeding difficulties; Deeply set eye; Microcephaly; Intellectual disability; Absent or delayed speech development 2 0 0 0 0 2
Autistic disorder of childhood onset; Global developmental delay; Generalized hypotonia; Intellectual disability, severe 0 1 0 0 0 1
Seizures; Deeply set eye; Microcephaly; Intellectual disability; Absent or delayed speech development 0 1 0 0 0 1

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