Variants studied for Nemaline myopathy 5

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
25	14	117	146	18	1	303

Gene and significance breakdown #

Total genes and gene combinations: 6

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
TNNT1	20	14	110	139	14	1	282
LOC130065089, TNNT1	3	0	5	5	0	0	13
TNNI3, TNNT1	1	0	1	2	3	0	5
DNAAF3, LOC130065089, LOC130065090, LOC130065091, LOC130065092, LOC130065093, LOC130065094, LOC130065095, LOC130065096, LOC130065097, MIR6802, MIR6803, MIR6804, PPP6R1, PTPRH, SYT5, TMEM86B, TNNI3, TNNT1	0	0	1	0	0	0	1
LOC130065089, TNNI3, TNNT1	1	0	0	0	0	0	1
MVK	0	0	0	0	1	0	1

Submitter and significance breakdown #

Total submitters: 17

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Labcorp Genetics (formerly Invitae), Labcorp	17	8	102	142	16	0	285
Illumina Laboratory Services, Illumina	0	0	18	3	2	0	23
OMIM	6	0	0	0	0	0	6
Baylor Genetics	1	0	2	0	0	0	3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	2	0	0	1	0	3
Pediatric Department, Peking University First Hospital	1	1	0	0	0	0	2
Neuberg Centre For Genomic Medicine, NCGM	0	1	1	0	0	0	2
Genome Diagnostics Laboratory, University Medical Center Utrecht	0	0	0	0	1	0	1
GeneReviews	0	0	0	0	0	1	1
Fulgent Genetics, Fulgent Genetics	0	0	0	1	0	0	1
Hadassah Hebrew University Medical Center	0	1	0	0	0	0	1
Kariminejad - Najmabadi Pathology & Genetics Center	0	1	0	0	0	0	1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	0	0	0	0	1	0	1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital	0	0	0	1	0	0	1
Genome-Nilou Lab	0	0	0	0	1	0	1
Genomics, Clalit Research Institute, Clalit Health Care	1	0	0	0	0	0	1
MVZ Medizinische Genetik Mainz	0	0	1	0	0	0	1

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