Variants in gene combination LOC130057222, TPM1

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	not provided	total
0	0	11	13	9	1	32

Condition and significance breakdown #

Total conditions: 8

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Condition	uncertain significance	likely benign	benign	not provided	total
not provided	3	7	8	1	19
not specified	4	4	2	0	10
Cardiomyopathy	0	2	0	0	2
Cardiovascular phenotype	2	0	0	0	2
Dilated cardiomyopathy 1Y	1	0	0	0	1
Long QT syndrome; Paroxysmal familial ventricular fibrillation	0	1	0	0	1
Primary familial hypertrophic cardiomyopathy	1	0	0	0	1
TPM1-related disorder	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 14

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Submitter	uncertain significance	likely benign	benign	not provided	total
GeneDx	0	9	8	0	17
Breakthrough Genomics, Breakthrough Genomics	0	2	5	0	7
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	2	1	2	0	5
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	4	0	0	0	4
Color Diagnostics, LLC DBA Color Health	0	2	0	0	2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	1	0	0	0	1
PreventionGenetics, part of Exact Sciences	1	0	0	0	1
Leiden Muscular Dystrophy (TPM1)	0	0	0	1	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	1	0	0	0	1
Blueprint Genetics	1	0	0	0	1
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute	0	1	0	0	1
CeGaT Center for Human Genetics Tuebingen	1	0	0	0	1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	0	1	0	0	1
AiLife Diagnostics, AiLife Diagnostics	1	0	0	0	1

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