ClinVar Miner

Variants in gene MYSM1

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Minimum submission review status: Collection method:
Minimum conflict level:
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 total
24 7 184 202 32 435

Condition and significance breakdown #

Total conditions: 5
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 18 6 151 191 32 395
Inborn genetic diseases 0 0 49 6 0 55
Bone marrow failure syndrome 4 8 2 3 0 10 23
MYSM1-related disorder 0 1 3 15 1 20
not specified 0 0 2 0 0 2

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 18 5 150 189 30 392
Ambry Genetics 0 0 49 6 0 55
PreventionGenetics, part of Exact Sciences 0 1 3 15 1 20
Breakthrough Genomics, Breakthrough Genomics 0 0 0 2 16 18
Genome-Nilou Lab 0 0 0 0 9 9
GeneDx 0 0 4 0 2 6
CeGaT Center for Human Genetics Tuebingen 0 1 1 3 0 5
OMIM 2 0 0 0 0 2
Baylor Genetics 1 1 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 2 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 0 0 0 0 2
Department of Medical Genetics, International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine 2 0 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 0 0 1 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 1
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 1 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 1

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