Variants studied for Brody myopathy

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
50	18	372	281	25	4	717

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	not provided	total
ATP2A1	47	18	371	281	24	4	712
ATP2A1, RABEP2	1	0	1	0	1	0	3
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: 16

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Invitae	40	12	296	276	22	0	646
Revvity Omics, Revvity	9	6	91	1	0	0	107
Illumina Laboratory Services, Illumina	0	0	54	4	10	0	68
OMIM	10	0	0	0	0	0	10
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
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	0	0	0	0	2	0	2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	0	1	0	0	0	0	1
Fulgent Genetics, Fulgent Genetics	0	1	0	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
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	0	0	1	0	0	0	1
Molecular Genetics, Royal Melbourne Hospital	0	0	1	0	0	0	1

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