Variants studied for RYR1-Related Disorders

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
462	227	2164	3440	213	8	6499

Gene and significance breakdown #

Total genes and gene combinations: 5

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
RYR1	448	222	2082	3333	201	6	6279
LOC126862902, RYR1	3	4	49	66	10	0	132
LOC130064357, RYR1	8	0	20	15	2	0	45
LOC129391106, RYR1	3	1	12	26	0	2	42
ACP7, ACTN4, C19orf33, CAPN12, CATSPERG, DPF1, ECH1, EIF3K, FAM98C, FBXO17, FBXO27, GGN, HNRNPL, IFNL3, KCNK6, LGALS4, LGALS7, LGALS7B, MAP4K1, MRPS12, NCCRP1, NFKBIB, PAK4, PPP1R14A, PSMD8, RASGRP4, RINL, RYR1, SARS2, SIPA1L3, SIRT2, SPINT2, SPRED3, SYCN, WDR87, YIF1B	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
Invitae	461	220	2160	3440	213	0	6494
Illumina Laboratory Services, Illumina	0	2	8	0	0	0	10
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego	5	0	0	0	0	0	5
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	5	5
Genomic Research Center, Shahid Beheshti University of Medical Sciences	1	0	3	0	0	0	4
GenomeConnect, ClinGen	0	0	0	0	0	3	3
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand	2	0	1	0	0	0	3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	1	1	0	0	0	0	2
Institute of Human Genetics, University of Leipzig Medical Center	0	2	0	0	0	0	2
DASA	1	1	0	0	0	0	2
Baylor Genetics	0	1	0	0	0	0	1

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