Variants studied for Isolated microphthalmia 5

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
48	13	320	241	25	625

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
C1QTNF5, MFRP	48	13	319	241	25	624
ABCG4, APOA1, APOA4, APOC3, ARCN1, ARHGEF12, ATP5MG, BACE1, BCL9L, C1QTNF5, C2CD2L, CBL, CD3D, CD3E, CD3G, CENATAC, CEP164, CXCR5, DDX6, DPAGT1, DRC12, DSCAML1, FOXR1, FXYD2, FXYD6, FXYD6-FXYD2, GRIK4, H2AX, HINFP, HMBS, HYOU1, IFT46, IL10RA, JAML, KMT2A, MCAM, MFRP, MPZL2, MPZL3, NECTIN1, NHERF4, NLRX1, OAF, PAFAH1B2, PCSK7, PHLDB1, POU2F3, RNF214, RNF26, RPS25, SC5D, SCN2B, SCN4B, SIDT2, SIK3, SLC37A4, SORL1, TAGLN, TBCEL, TECTA, THY1, TLCD5, TMEM25, TMPRSS13, TMPRSS4, TRAPPC4, TREH, TRIM29, TTC36, UBE4A, UPK2, USP2, VPS11	0	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 13

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	43	6	246	237	25	557
Illumina Laboratory Services, Illumina	0	1	81	4	0	86
OMIM	8	0	0	0	0	8
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	2	1	1	0	0	4
Gu's Lab, Ningxia Medical University	1	0	3	0	0	4
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals	0	2	0	0	0	2
Institute of Human Genetics, University of Leipzig Medical Center	0	1	1	0	0	2
3billion	1	1	0	0	0	2
Baylor Genetics	1	0	0	0	0	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	1	0	0	0	0	1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University	1	0	0	0	0	1
Genome-Nilou Lab	0	0	0	0	1	1
Research Laboratory of Ophthalmology and Vision Sciences, West China Hospital, Sichuan University	0	1	0	0	0	1

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