ClinVar Miner

Variants studied for qualitative or quantitative defects of filamin C

Included ClinVar conditions (7):
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
297 76 1804 1895 183 7 4179

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
FLNC 293 76 1793 1882 181 7 4149
FLNC, LOC129999273 2 0 10 13 2 0 27
ATP6V1F, FLNC, IRF5, KCP, TNPO3 1 0 1 0 0 0 2
ATP6V1F, FLNC, KCP 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 296 66 1734 1884 183 0 4163
Fulgent Genetics, Fulgent Genetics 1 2 101 24 3 0 131
Baylor Genetics 1 3 5 0 0 0 9
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 8 0 0 0 8
Juno Genomics, Hangzhou Juno Genomics, Inc 0 4 2 0 0 0 6
GenomeConnect, ClinGen 0 0 0 0 0 4 4
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 4 4
OMIM 3 0 0 0 0 0 3
Mendelics 1 1 1 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 0 0 0 3
Phosphorus, Inc. 0 0 1 2 0 0 3
Centogene AG - the Rare Disease Company 0 0 2 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 2 0 0 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 0 2 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Breda Genetics srl 0 0 1 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 0 1 0 0 0 1

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