Variants studied for Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9

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)

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
30	107	1278	143	20	7	1583

Gene and significance breakdown #

Total genes and gene combinations: 20

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
TTN	29	98	1136	124	18	7	1410
LOC101927055, TTN	0	0	12	3	1	0	16
LOC126806421, TTN	0	1	15	0	0	0	16
LOC126806424, TTN	0	1	11	4	0	0	16
LOC126806423, TTN	1	2	10	1	1	0	15
LOC126806425, TTN	0	2	12	1	0	0	15
LOC126806422, TTN	0	0	9	3	0	0	12
LOC126806428, TTN	0	0	11	1	0	0	12
LOC126806432, TTN	0	0	10	1	0	0	11
LOC126806431, TTN	0	0	10	0	0	0	10
LOC126806433, TTN	0	0	9	0	0	0	9
LOC126806429, TTN	0	0	7	0	0	0	7
LOC126806420, TTN	0	0	5	1	0	0	6
LOC126806426, TTN	0	1	4	1	0	0	6
LOC126806427, TTN	0	1	4	1	0	0	6
LOC129935183, TTN	0	0	6	0	0	0	6
LOC126806430, TTN	0	0	4	1	0	0	5
LOC129935182, TTN	0	1	2	0	0	0	3
LOC129935185, TTN	0	0	0	1	0	0	1
LRP4	0	0	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 11

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Fulgent Genetics, Fulgent Genetics	19	61	1169	140	18	0	1407
Department of Pathology and Laboratory Medicine, Sinai Health System	0	4	117	3	3	0	127
Juno Genomics, Hangzhou Juno Genomics, Inc	5	41	0	0	0	0	46
Baylor Genetics	3	0	4	0	0	0	7
GenomeConnect, ClinGen	0	0	0	0	0	5	5
Division of Human Genetics, Children's Hospital of Philadelphia	0	1	3	0	0	0	4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	2	0	0	0	0	0	2
GenomeConnect - Brain Gene Registry	0	0	0	0	0	2	2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology	1	1	0	0	0	0	2
Institute of Human Genetics, Heidelberg University	1	0	0	0	0	0	1
Kariminejad - Najmabadi Pathology & Genetics Center	0	0	1	0	0	0	1

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