ClinVar Miner

Variants in gene IFRD1

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
0 0 42 7 13 57

Condition and significance breakdown #

Total conditions: 4
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Condition uncertain significance likely benign benign total
not specified 40 1 10 51
not provided 1 5 10 14
IFRD1-related disorder 0 2 0 2
Charcot-Marie-Tooth disease 1 0 0 1

Submitter and significance breakdown #

Total submitters: 10
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Submitter uncertain significance likely benign benign total
Ambry Genetics 40 1 0 41
Clinical Genetics, Academic Medical Center 1 1 10 12
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 2 7 10
Breakthrough Genomics, Breakthrough Genomics 0 2 8 10
Labcorp Genetics (formerly Invitae), Labcorp 0 0 5 5
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 1 2 3
PreventionGenetics, part of Exact Sciences 0 2 0 2
CeGaT Center for Human Genetics Tuebingen 0 1 1 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 1
Inherited Neuropathy Consortium 1 0 0 1

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