ClinVar Miner

Variants in gene SMCHD1

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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
64 10 285 78 35 1 427

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 18 3 194 28 12 0 242
Facioscapulohumeral muscular dystrophy 2 28 1 110 45 14 1 197
not specified 0 0 3 22 28 0 48
Arrhinia with choanal atresia and microphthalmia syndrome 20 0 4 0 0 0 24
Scapulohumeral muscular dystrophy 1 5 6 0 0 0 12
Anosmia 2 0 0 0 0 0 2
Cryptorchidism; Short nose; Microphallus 1 0 0 0 0 0 1
Muscle weakness 0 0 1 0 0 0 1
Myopathy 0 0 1 0 0 0 1
See cases 0 0 1 0 0 0 1
Short nose 1 0 0 0 0 0 1
Shoulder girdle muscle weakness 0 1 0 0 0 0 1
Skeletal muscle atrophy 1 0 0 0 0 0 1
Weakness of facial musculature 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 16 2 188 6 11 0 223
Invitae 16 1 110 63 18 0 208
PreventionGenetics, PreventionGenetics 0 0 0 14 15 0 29
Athena Diagnostics Inc 0 1 4 4 15 0 24
Harvard Reproductive Endocrine Science Center,Massachusetts General Hospital 20 0 0 0 0 0 20
OMIM 19 0 0 0 0 0 19
Institute of Human Genetics,University of Wuerzburg 2 6 8 0 0 0 16
GeneDx 2 0 3 0 0 0 5
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 3 1 0 0 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 2 0 0 0 2
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 2 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 1
Clinical Genetics laboratory, University of Goettingen 0 0 1 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Lineagen, Inc 0 0 1 0 0 0 1
Illumina Clinical Services Laboratory,Illumina 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1

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