Variants studied for Heterotaxy, visceral, 5, autosomal

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
9	10	63	32	15	1	118

Gene and significance breakdown #

Total genes and gene combinations: 3

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
NODAL	8	10	62	32	15	1	116
EIF4EBP2, NODAL	1	0	0	0	0	0	1
EIF4EBP2, NODAL, PALD1, PRF1	0	0	1	0	0	0	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	4	2	31	28	8	0	73
Illumina Laboratory Services, Illumina	0	0	29	6	12	0	47
OMIM	4	0	0	0	0	0	4
Baylor Genetics	0	2	2	0	0	0	4
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	0	2	1	0	0	0	3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	0	1	0	1	0	2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	2	0	0	0	0	2
Genome-Nilou Lab	0	0	0	0	2	0	2
Revvity Omics, Revvity	0	0	1	0	0	0	1
Duke University Health System Sequencing Clinic, Duke University Health System	0	0	1	0	0	0	1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego	1	0	0	0	0	0	1
GenomeConnect, ClinGen	0	0	0	0	0	1	1
Juno Genomics, Hangzhou Juno Genomics, Inc	0	1	0	0	0	0	1
Genomic Medicine Lab, University of California San Francisco	0	0	1	0	0	0	1
Institute of Immunology and Genetics Kaiserslautern	0	1	0	0	0	0	1

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