ClinVar Miner

Variants in gene SRP72

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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
2 0 516 261 93 833

Condition and significance breakdown #

Total conditions: 4
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Condition pathogenic uncertain significance likely benign benign total
not provided 0 329 195 84 590
not specified 0 269 97 6 371
Autosomal dominant aplasia and myelodysplasia 2 46 7 34 83
SRP72-related disorder 0 13 22 3 38

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 0 271 164 27 462
Ambry Genetics 0 255 90 0 345
GeneDx 0 110 32 50 192
Illumina Laboratory Services, Illumina 0 32 3 29 64
Genetic Services Laboratory, University of Chicago 0 24 14 6 44
PreventionGenetics, part of Exact Sciences 0 13 22 3 38
Breakthrough Genomics, Breakthrough Genomics 0 4 7 24 35
CeGaT Center for Human Genetics Tuebingen 0 2 7 5 14
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 4 7 11
Fulgent Genetics, Fulgent Genetics 0 9 1 0 10
OMIM 2 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 2 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 1 2
Genome-Nilou Lab 0 0 0 2 2
Neuberg Centre For Genomic Medicine, NCGM 0 2 0 0 2
Baylor Genetics 0 1 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 0 0 1
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 1 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 0 1
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 1 0 0 1

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