ClinVar Miner

Variants studied for sinoatrial node disorder

Included ClinVar conditions (19):
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 risk factor not provided total
28 14 623 72 97 1 3 828

Gene and significance breakdown #

Total genes and gene combinations: 13
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
SCN5A 19 10 281 25 43 0 3 375
MYH6 0 0 145 30 5 1 0 181
HCN4 8 0 106 9 39 0 0 160
LOC110121269, SCN5A 0 1 36 3 7 0 0 45
LOC114827851, MYH6 0 0 28 2 0 0 0 30
LOC126861896, MYH6 0 0 19 3 2 0 0 24
HCN4, LOC105370890, LOC126862173 0 0 6 0 1 0 0 7
CORO1A 0 1 0 0 0 0 0 1
GNB2 1 0 0 0 0 0 0 1
HCN4, LOC105370890 0 0 1 0 0 0 0 1
LMNA 0 1 0 0 0 0 0 1
MECP2 0 1 0 0 0 0 0 1
SNTA1 0 0 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 risk factor not provided total
Fulgent Genetics, Fulgent Genetics 12 6 417 51 13 0 0 499
Illumina Laboratory Services, Illumina 0 0 194 21 86 0 0 301
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 20 0 0 0 0 20
OMIM 14 0 0 0 0 1 0 15
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 1 5 0 0 0 0 8
New York Genome Center 0 0 6 0 0 0 0 6
MGZ Medical Genetics Center 0 0 2 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 0 0 0 0 2
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 1 0 0 0 0 1
Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust 0 0 0 0 0 0 1 1
Blueprint Genetics 0 1 0 0 0 0 0 1
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 1 0 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 1 0 0 0 0 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 1 0 0 0 0 0 1
Institute Of Molecular Biology And Genetics, Federal Almazov National Medical Research Centre 0 0 1 0 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 0 1
Phosphorus, Inc. 0 0 0 0 1 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 0 1 0 0 0 0 0 1
DASA 1 0 0 0 0 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 1 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 1 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 0 1
Department of Legal Medicine, University of Toyama 0 1 0 0 0 0 0 1
KardioGenetik, Herz- und Diabeteszentrum NRW 0 0 1 0 0 0 0 1

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