ClinVar Miner

Variants studied for facioscapulohumeral muscular dystrophy

Included ClinVar conditions (6):
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
56 17 497 420 51 1 1034

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SMCHD1 51 16 489 413 50 1 1013
LOC130062084, SMCHD1 1 1 4 6 1 0 12
DNMT3B 1 0 2 1 0 0 4
DNMT3B, LOC126863014 1 0 1 0 0 0 2
EMILIN2, LPIN2, MYL12A, MYL12B, MYOM1, SMCHD1, TGIF1 1 0 0 0 0 0 1
EMILIN2, LPIN2, MYOM1, SMCHD1 0 0 1 0 0 0 1
LRIF1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 40 5 481 416 51 0 993
Institute of Human Genetics, University of Wuerzburg 2 5 13 2 0 0 22
OMIM 14 0 0 0 0 0 14
MGZ Medical Genetics Center 0 3 2 0 0 0 5
Fulgent Genetics, Fulgent Genetics 0 0 2 2 0 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 0 0 0 3
Solve-RD Consortium 0 2 0 0 0 0 2
Baylor Genetics 1 0 0 0 0 0 1
MGH Harvard Center for Reproductive Medicine, Massachusetts General Hospital 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 1
3billion 0 0 0 1 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1

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