Variants studied for Holoprosencephaly 11

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	total
4	0	227	91	100	406

Gene and significance breakdown #

Total genes and gene combinations: 3

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Gene or gene combination	pathogenic	uncertain significance	likely benign	benign	total
CDON	4	223	91	100	402
ACRV1, CCDC15, CDON, CHEK1, DDX25, EI24, ESAM, FAM118B, FEZ1, FOXRED1, HEPACAM, HEPN1, HYLS1, MSANTD2, NRGN, OR10G4, OR10G7, OR10G8, OR10G9, OR10S1, OR4D5, OR6M1, OR6T1, OR6X1, OR8A1, OR8B12, OR8B2, OR8B3, OR8B4, OR8B8, OR8D1, OR8D2, OR8D4, OR8G1, OR8G5, PANX3, PATE1, PATE2, PATE3, PATE4, PKNOX2, PUS3, ROBO3, ROBO4, RPUSD4, SCN3B, SIAE, SLC37A2, SPA17, SRPRA, STT3A, TBRG1, TIRAP, TMEM218, TMEM225, VSIG2, VWA5A, ZNF202	0	2	0	0	2
CDON, LOC130007022	0	2	0	0	2

Submitter and significance breakdown #

Total submitters: 12

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Submitter	pathogenic	uncertain significance	likely benign	benign	total
Invitae	0	123	67	46	236
Illumina Laboratory Services, Illumina	0	98	29	81	208
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	0	1	9	10
Genome-Nilou Lab	0	0	0	6	6
Revvity Omics, Revvity	0	5	0	0	5
OMIM	4	0	0	0	4
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	4	0	0	4
Fulgent Genetics, Fulgent Genetics	0	1	2	0	3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	2	0	0	2
Genetics and Molecular Pathology, SA Pathology	0	1	0	0	1
Johns Hopkins Genomics, Johns Hopkins University	0	1	0	0	1
Neuberg Centre For Genomic Medicine, NCGM	0	1	0	0	1

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