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
51 9 234 62 34 1 353

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 18 3 193 25 13 0 241
Facioscapulohumeral muscular dystrophy 2 15 1 57 22 13 1 108
not specified 0 0 3 22 27 0 47
Arhinia choanal atresia microphthalmia 20 0 0 0 0 0 20
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
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

Submitter and significance breakdown #

Total submitters: 14
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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 7 1 57 47 18 0 130
PreventionGenetics,PreventionGenetics 0 0 0 14 15 0 29
Harvard Reproductive Endocrine Science Center,Massachusetts General Hospital 20 0 0 0 0 0 20
Athena Diagnostics Inc 0 1 3 2 12 0 18
OMIM 15 0 0 0 0 0 15
Institute of Human Genetics,University of Wuerzburg 1 5 6 0 0 0 12
GeneDx 2 0 3 0 0 0 5
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 3 0 0 0 3
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics, Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 1
Institute of Human Genetics,University of Goettingen 0 0 1 0 0 0 1
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Lineagen, Inc 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1

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