Variants studied for myopathy, centronuclear, 2

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
8	6	328	258	39	3	602

Gene and significance breakdown #

Total genes and gene combinations: 7

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
BIN1	8	6	310	257	39	2	582
BIN1, LOC122819150	0	0	13	1	0	0	14
BIN1, LOC112806045	0	0	2	0	0	0	2
ASIC4, SPEG	0	0	1	0	0	0	1
BIN1, CYP27C1, ERCC3, GPR17, IWS1, LIMS2, MAP3K2, MYO7B, PROC	0	0	1	0	0	0	1
BIN1, LOC112806045, LOC129934710, LOC129934711, LOC129934712, LOC129934713, LOC129934714	0	0	1	0	0	0	1
TTN	0	0	0	0	0	1	1

Submitter and significance breakdown #

Total submitters: 15

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Labcorp Genetics (formerly Invitae), Labcorp	1	1	252	253	28	0	535
Illumina Laboratory Services, Illumina	0	0	71	4	9	0	84
Revvity Omics, Revvity	0	2	29	0	0	0	31
Genome-Nilou Lab	0	0	0	0	13	0	13
OMIM	6	0	0	0	0	0	6
Genetic Services Laboratory, University of Chicago	1	0	4	0	0	0	5
Fulgent Genetics, Fulgent Genetics	0	0	3	1	0	0	4
SIB Swiss Institute of Bioinformatics	0	4	0	0	0	0	4
Baylor Genetics	0	0	3	0	0	0	3
Breda Genetics srl	0	0	2	0	0	0	2
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	2	2
Mayo Clinic Laboratories, Mayo Clinic	0	0	1	0	0	0	1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	1	0	0	0	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	0	0	1	0	0	0	1
GenomeConnect, ClinGen	0	0	0	0	0	1	1

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