ClinVar Miner

Variants in gene FERMT1

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
31 1 102 21 47 2 199

Condition and significance breakdown #

Total conditions: 3
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Kindler's syndrome 30 0 99 13 44 0 186
not provided 3 1 3 10 8 2 24
not specified 0 0 0 0 6 0 6

Submitter and significance breakdown #

Total submitters: 10
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 1 0 99 13 44 0 157
GeneReviews 25 0 0 0 0 0 25
Invitae 0 0 0 10 8 0 18
OMIM 6 0 0 0 0 0 6
GeneDx 2 1 3 0 0 0 6
PreventionGenetics,PreventionGenetics 0 0 0 0 6 0 6
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Department of Genetics,Sultan Qaboos University Hospital, Oman 2 0 0 0 0 0 2
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1

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