ClinVar Miner

Variants in gene SMCHD1

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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
96 30 705 484 172 1 1385

Condition and significance breakdown #

Total conditions: 21
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Facioscapulohumeral muscular dystrophy 2 50 9 482 411 50 1 999
not provided 30 13 288 70 134 0 522
not specified 0 0 6 21 27 0 50
Inborn genetic diseases 1 0 43 4 0 0 48
Arrhinia with choanal atresia and microphthalmia syndrome 20 0 7 0 12 0 38
SMCHD1-related condition 2 1 7 10 5 0 25
Scapulohumeral muscular dystrophy 1 5 6 0 0 0 12
Arrhinia with choanal atresia and microphthalmia syndrome; Facioscapulohumeral muscular dystrophy 2 0 0 2 2 0 0 4
Abnormality of the musculature 2 0 0 0 0 0 2
Anosmia 2 0 0 0 0 0 2
Muscle weakness 0 1 1 0 0 0 2
Scapular winging 0 0 2 0 0 0 2
See cases 0 0 2 0 0 0 2
Cryptorchidism; Short nose; Microphallus 1 0 0 0 0 0 1
Muscular atrophy 1 0 0 0 0 0 1
Muscular dystrophy 0 0 1 0 0 0 1
Myopathy 0 0 1 0 0 0 1
Proximal muscle weakness in upper limbs 1 0 0 0 0 0 1
Short nose 1 0 0 0 0 0 1
Shoulder girdle muscle weakness 0 1 0 0 0 0 1
Weakness of facial musculature 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 39 5 475 414 50 0 983
Eurofins Ntd Llc (ga) 16 2 188 6 10 0 222
GeneDx 3 1 20 50 129 0 203
Revvity Omics, Revvity 13 9 99 1 1 0 123
PreventionGenetics, part of Exact Sciences 2 1 7 22 19 0 51
Ambry Genetics 1 0 43 4 0 0 48
Institute of Human Genetics, University of Wuerzburg 4 7 17 0 0 0 28
Athena Diagnostics Inc 0 1 7 5 14 0 27
CeGaT Center for Human Genetics Tuebingen 0 0 11 16 0 0 27
MGH Harvard Center for Reproductive Medicine, Massachusetts General Hospital 20 0 0 0 0 0 20
OMIM 18 0 0 0 0 0 18
Genome-Nilou Lab 0 0 0 0 12 0 12
MGZ Medical Genetics Center 0 2 2 0 0 0 4
Fulgent Genetics, Fulgent Genetics 0 0 2 2 0 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 3 0 0 0 3
Mayo Clinic Laboratories, Mayo Clinic 0 0 3 0 0 0 3
Baylor Genetics 1 0 1 0 0 0 2
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
Kariminejad - Najmabadi Pathology & Genetics Center 2 0 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 0 2
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, 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
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Bionano Laboratories 0 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
Illumina Laboratory Services, Illumina 0 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 1 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
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 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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