ClinVar Miner

Variants in gene SMARCE1

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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 risk factor not provided total
33 22 465 389 25 4 1 876

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Familial meningioma 24 12 384 264 13 4 0 699
Hereditary cancer-predisposing syndrome 9 3 152 218 0 0 0 382
not provided 4 5 51 27 13 0 1 98
SMARCE1-related condition 0 0 8 12 0 0 0 20
Coffin-Siris syndrome 5 3 1 8 0 0 0 0 12
not specified 0 0 3 2 0 0 0 5
Rhabdoid tumor predisposition syndrome 1 0 0 0 3 1 0 0 4
Inborn genetic diseases 0 1 2 0 0 0 0 3
Familial meningioma; Coffin-Siris syndrome 5 0 0 2 0 0 0 0 2
Intellectual disability 0 0 1 0 0 0 0 1
Tessier cleft 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 22 8 379 264 13 0 0 686
Ambry Genetics 9 4 153 218 0 0 0 384
GeneDx 3 3 43 18 12 0 0 79
Baylor Genetics 0 2 31 0 0 0 0 33
CeGaT Center for Human Genetics Tuebingen 1 2 5 11 2 0 0 21
PreventionGenetics, part of Exact Sciences 0 0 8 12 0 0 0 20
OMIM 2 0 0 0 0 4 0 6
Genetic Services Laboratory, University of Chicago 1 1 0 2 0 0 0 4
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 3 1 0 0 4
Revvity Omics, Revvity 0 0 3 0 0 0 0 3
Genetics and Molecular Pathology, SA Pathology 1 2 0 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 2 0 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 2 0 0 0 0 2
Fulgent Genetics, Fulgent Genetics 0 0 2 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1 0 0 0 0 0 2
Gharavi Laboratory, Columbia University 0 0 2 0 0 0 0 2
New York Genome Center 0 0 2 0 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 0 0 1
Mendelics 0 0 1 0 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 1 0 0 0 0 0 0 1
Diagnostic Laboratory, Strasbourg University Hospital 0 0 1 0 0 0 0 1
Medical Genetics, Meyer Children Hospital 1 0 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 0 1
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 1 0 0 0 0 1
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 0 1 1
Genetics Laboratory - UDIAT Centre Diagnòstic, Hospital Universitari Parc Tauli 1 0 0 0 0 0 0 1

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