ClinVar Miner

Variants studied for hereditary antithrombin deficiency

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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Gene type:
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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 total
110 57 94 85 18 326

Gene and significance breakdown #

Total genes and gene combinations: 16
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SERPINC1 92 57 94 85 18 308
LOC122149309, LOC126805923, LOC126805924, LOC129388636, LOC129388637, LOC129388638, LOC129931942, LOC129931943, LOC129931944, LOC129931945, LOC129931946, LOC129931947, LOC129931948, LOC129931949, LOC129931950, LOC129931951, LOC129931952, RABGAP1L, RABGAP1L-DT, RC3H1, RC3H1-DT, SERPINC1, ZBTB37 3 0 0 0 0 3
LOC126805923, SERPINC1, ZBTB37 2 0 0 0 0 2
ANKRD45, CACYBP, CENPL, COP1, DARS2, GAS5, GPR52, KIAA0040, KLHL20, LINC01657, LOC105371622, LOC112577515, LOC122149309, LOC122149310, LOC122149311, LOC122149312, LOC126805922, LOC126805923, LOC126805924, LOC126805925, LOC126805926, LOC126805927, LOC126805928, LOC129388635, LOC129388636, LOC129388637, LOC129388638, LOC129388639, LOC129388640, LOC129388641, LOC129388642, LOC129931937, LOC129931938, LOC129931939, LOC129931940, LOC129931941, LOC129931942, LOC129931943, LOC129931944, LOC129931945, LOC129931946, LOC129931947, LOC129931948, LOC129931949, LOC129931950, LOC129931951, LOC129931952, LOC129931953, LOC129931954, LOC129931955, LOC129931956, LOC129931957, LOC129931958, LOC129931959, LOC129931960, LOC129931961, LOC129931962, LOC129931963, LOC129931964, LOC129931965, LOC129931966, LOC129931967, LOC129931968, LOC129931969, LOC129931970, LOC129931971, MIR1843, MRPS14, RABGAP1L, RABGAP1L-DT, RC3H1, RC3H1-DT, SCARNA3, SERPINC1, SNORA103, SNORD44, SNORD47, SNORD74, SNORD75, SNORD76, SNORD77, SNORD78, SNORD79, SNORD80, SNORD81, TNN, TNR, ZBTB37 1 0 0 0 0 1
ANKRD45, CACYBP, CENPL, DARS2, GAS5, GPR52, KIAA0040, KLHL20, LOC105371622, LOC112577515, LOC115801455, LOC122149309, LOC122149310, LOC122149311, LOC126805920, LOC126805921, LOC126805922, LOC126805923, LOC126805924, LOC126805925, LOC126805926, LOC126805927, LOC126805928, LOC129388635, LOC129388636, LOC129388637, LOC129388638, LOC129388639, LOC129388640, LOC129931937, LOC129931938, LOC129931939, LOC129931940, LOC129931941, LOC129931942, LOC129931943, LOC129931944, LOC129931945, LOC129931946, LOC129931947, LOC129931948, LOC129931949, LOC129931950, LOC129931951, LOC129931952, LOC129931953, LOC129931954, LOC129931955, LOC129931956, LOC129931957, LOC129931958, LOC129931959, LOC129931960, LOC129931961, LOC129931962, LOC129931963, LOC129931964, LOC129931965, MRPS14, RABGAP1L, RABGAP1L-DT, RC3H1, RC3H1-DT, SERPINC1, SLC9C2, SNORA103, SNORD44, SNORD47, SNORD74, SNORD75, SNORD76, SNORD77, SNORD78, SNORD79, SNORD80, SNORD81, TEX50, TNN, ZBTB37 1 0 0 0 0 1
ANKRD45, CENPL, DARS2, GAS5, GPR52, KLHL20, LOC100506023, LOC112577515, LOC115801455, LOC120893168, LOC121725064, LOC122149307, LOC122149308, LOC122149309, LOC126805920, LOC126805921, LOC126805922, LOC126805923, LOC126805924, LOC129388633, LOC129388634, LOC129388635, LOC129388636, LOC129388637, LOC129388638, LOC129931919, LOC129931920, LOC129931921, LOC129931922, LOC129931923, LOC129931924, LOC129931925, LOC129931926, LOC129931927, LOC129931928, LOC129931929, LOC129931930, LOC129931931, LOC129931932, LOC129931933, LOC129931934, LOC129931935, LOC129931936, LOC129931937, LOC129931938, LOC129931939, LOC129931940, LOC129931941, LOC129931942, LOC129931943, LOC129931944, LOC129931945, LOC129931946, LOC129931947, LOC129931948, LOC129931949, LOC129931950, LOC129931951, LOC129931952, LOC129931953, LOC129931954, LOC129931955, PRDX6, RABGAP1L, RABGAP1L-DT, RC3H1, RC3H1-DT, SERPINC1, SLC9C2, SNORA103, SNORD44, SNORD47, SNORD74, SNORD75, SNORD76, SNORD77, SNORD78, SNORD79, SNORD80, SNORD81, TEX50, TNFSF18, TNFSF4, ZBTB37 1 0 0 0 0 1
CENPL, DARS2, GAS5, LOC122149309, LOC126805922, LOC126805923, LOC126805924, LOC129388635, LOC129388636, LOC129388637, LOC129931939, LOC129931940, LOC129931941, LOC129931942, LOC129931943, LOC129931944, LOC129931945, LOC129931946, LOC129931947, LOC129931948, LOC129931949, LOC129931950, LOC129931951, RABGAP1L, RABGAP1L-DT, RC3H1, RC3H1-DT, SERPINC1, SNORA103, SNORD44, SNORD47, SNORD74, SNORD75, SNORD76, SNORD77, SNORD78, SNORD79, SNORD80, SNORD81, ZBTB37 1 0 0 0 0 1
DARS2, GAS5, GPR52, LOC112577515, LOC122149309, LOC126805922, LOC126805923, LOC126805924, LOC129388636, LOC129388637, LOC129388638, LOC129931940, LOC129931941, LOC129931942, LOC129931943, LOC129931944, LOC129931945, LOC129931946, LOC129931947, LOC129931948, LOC129931949, LOC129931950, LOC129931951, LOC129931952, LOC129931953, LOC129931954, LOC129931955, RABGAP1L, RABGAP1L-DT, RC3H1, RC3H1-DT, SERPINC1, SNORA103, SNORD44, SNORD47, SNORD74, SNORD75, SNORD76, SNORD77, SNORD78, SNORD79, SNORD80, SNORD81, ZBTB37 1 0 0 0 0 1
DARS2, GAS5, LOC126805922, LOC126805923, LOC126805924, LOC129931940, LOC129931941, RC3H1, SERPINC1, SNORA103, SNORD44, SNORD47, SNORD74, SNORD75, SNORD76, SNORD77, SNORD78, SNORD79, SNORD80, SNORD81, ZBTB37 1 0 0 0 0 1
GAS5, LOC126805922, LOC126805923, LOC129931940, LOC129931941, SERPINC1, SNORA103, SNORD44, SNORD47, SNORD74, SNORD75, SNORD76, SNORD77, SNORD78, SNORD79, SNORD80, SNORD81, ZBTB37 1 0 0 0 0 1
LOC122149309, LOC126805923, LOC126805924, LOC129388636, LOC129388637, LOC129931942, LOC129931943, LOC129931944, LOC129931945, RABGAP1L-DT, RC3H1, RC3H1-DT, SERPINC1, ZBTB37 1 0 0 0 0 1
LOC122149309, LOC126805924, LOC129388636, LOC129388637, LOC129931942, LOC129931943, LOC129931944, LOC129931945, LOC129931946, RABGAP1L-DT, RC3H1, RC3H1-DT, SERPINC1 1 0 0 0 0 1
LOC126805923, LOC126805924, RC3H1, SERPINC1, ZBTB37 1 0 0 0 0 1
LOC126805924, LOC129388636, LOC129388637, LOC129931942, LOC129931943, LOC129931944, RC3H1, RC3H1-DT, SERPINC1 1 0 0 0 0 1
RC3H1, SERPINC1 1 0 0 0 0 1
RC3H1, SERPINC1, ZBTB37 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 38 18 54 78 14 202
OMIM 42 0 1 0 0 43
Servicio de Hematología y Oncología médica, Universidad de Murcia 30 0 0 0 0 30
NIHR Bioresource Rare Diseases, University of Cambridge 0 20 5 0 0 25
Illumina Laboratory Services, Illumina 1 0 17 2 4 24
Clingen Thrombosis Variant Curation Expert Panel, ClinGen 11 0 0 5 7 23
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 2 11 9 0 0 22
Fulgent Genetics, Fulgent Genetics 2 2 10 1 1 16
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 6 0 6 0 0 12
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 3 5 1 0 0 9
CSER _CC_NCGL, University of Washington 0 0 4 2 0 6
Genetics and Molecular Pathology, SA Pathology 2 1 1 0 0 4
Revvity Omics, Revvity Omics 0 2 1 0 0 3
Genome-Nilou Lab 0 0 0 0 3 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 0 0 0 0 2
Baylor Genetics 0 0 1 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 1 0 0 0 1
MGZ Medical Genetics Center 1 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 0 0 0 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 0 1 0 0 1
Clinical Genetics Laboratory, Region Ostergotland 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 0 0 0 0 1
3billion 0 1 0 0 0 1
Laboratory for Immunogenetics and Molecular Haemostaseology, Universitaetsklinikum Erlangen 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 1

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