ClinVar Miner

Variants in gene SMCHD1

Minimum submission review status: Collection method:
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Gene type:
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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
48 8 206 25 28 1 298

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 3 185 0 2 0 208
not specified 0 0 6 22 27 0 50
Facioscapulohumeral muscular dystrophy 2 12 1 21 5 9 1 49
Arhinia choanal atresia microphthalmia 20 0 0 0 0 0 20
Scapulohumeral muscular dystrophy 0 4 3 0 0 0 7
Anosmia 2 0 0 0 0 0 2
Cryptorchidism; Short nose; Microphallus 1 0 0 0 0 0 1
Muscular Diseases 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: 12
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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 4 1 21 5 9 0 40
PreventionGenetics 0 0 0 14 15 0 29
Harvard Reproductive Endocrine Science Center,Massachusetts General Hospital 20 0 0 0 0 0 20
OMIM 15 0 0 0 0 0 15
Athena Diagnostics Inc 0 1 1 2 6 0 10
Institute of Human Genetics,University of Wuerzburg 0 4 3 0 0 0 7
GeneDx 2 0 3 0 0 0 5
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
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 1

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