Variants studied for Sinoatrial node dysfunction and deafness

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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	4	15	5	11	35

Gene and significance breakdown #

Total genes and gene combinations: 4

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
CACNA1D	2	4	10	5	11	30
CACNA1D, LOC129936904	0	0	3	0	0	3
intergenic	0	0	1	0	0	1
DNAH9	0	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 15

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Genome-Nilou Lab	0	0	0	0	11	11
Department of Pathology and Laboratory Medicine, Sinai Health System	0	0	6	0	0	6
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	0	4	1	0	5
Mendelics	0	1	1	2	0	4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	0	0	0	0	3	3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	1	1	0	0	2
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	2	0	0	2
University of Washington Center for Mendelian Genomics, University of Washington	0	2	0	0	0	2
OMIM	1	0	0	0	0	1
King Laboratory, University of Washington	0	1	0	0	0	1
Division of Human Genetics, Children's Hospital of Philadelphia	0	0	1	0	0	1
Hereditary Research Laboratory, Bethlehem University	1	0	0	0	0	1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	0	0	0	1	0	1
3billion	0	0	0	1	0	1
Neuberg Centre For Genomic Medicine, NCGM	1	0	0	0	0	1

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