ClinVar Miner

Variants studied for qualitative or quantitative defects of protein SERCA1

Included ClinVar conditions (2):
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 not provided total
57 20 389 321 25 4 780

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ATP2A1 52 18 372 319 24 4 754
CASQ1 1 2 16 2 0 0 20
ATP2A1, RABEP2 1 0 1 0 1 0 3
APOBR, ATP2A1, ATXN2L, CD19, CLN3, EIF3C, IL27, LAT, NFATC2IP, NUPR1, RABEP2, SGF29, SH2B1, SPNS1, SULT1A1, SULT1A2, TUFM 1 0 0 0 0 0 1
ATP2A1, ATXN2L, LOC112340393, LOC129390780, LOC130058735, LOC130058736, LOC130058737, LOC130058738, LOC130058739, LOC130058740, LOC130058741, MIR4721, SH2B1, TUFM 1 0 0 0 0 0 1
ATP2A1, LOC130058740, LOC130058741 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 45 12 298 314 22 0 691
Revvity Omics, Revvity 9 6 102 1 0 0 118
Illumina Laboratory Services, Illumina 0 0 54 4 10 0 68
OMIM 11 0 0 0 0 0 11
Baylor Genetics 2 0 1 0 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
MGZ Medical Genetics Center 0 1 1 0 0 0 2
Fulgent Genetics, Fulgent Genetics 0 1 0 1 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 1 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 0 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 0 1 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 0 0 0 1
Breda Genetics srl 0 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 1 0 0 0 0 0 1
Inborn Errors of Metabolism, Hospital Clinic, IDIBAPS, CIBERER 0 1 0 0 0 0 1
3billion, Medical Genetics 0 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 1

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