Variants studied for Neurodevelopmental disorder and language delay with or without structural brain abnormalities

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
12	15	5	0	1	28

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	benign	total
PPP2CA	11	15	5	1	27
ACSL6, ADAMTS19, AFF4, C5orf15, CCNI2, CDC42SE2, CDKL3, CDKN2AIPNL, CHSY3, CSF2, FBN2, FNIP1, FSTL4, GDF9, HINT1, HSPA4, IL13, IL3, IL4, IL5, IRF1, ISOC1, JADE2, KIF3A, LEAP2, LYRM7, MINAR2, P4HA2, PDLIM4, PPP2CA, RAD50, RAPGEF6, SAR1B, SEC24A, SEPTIN8, SHROOM1, SKP1, SLC22A4, SLC22A5, SLC27A6, SOWAHA, TCF7, UBE2B, UQCRQ, VDAC1, ZCCHC10	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 15

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Submitter	pathogenic	likely pathogenic	uncertain significance	benign	total
SIB Swiss Institute of Bioinformatics	1	10	1	0	12
OMIM	6	0	0	0	6
Baylor Genetics	0	2	1	0	3
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München	2	1	0	0	3
New York Genome Center	0	0	2	0	2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	0	1	0	0	1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet	1	0	0	0	1
Revvity Omics, Revvity	0	0	1	0	1
MGZ Medical Genetics Center	0	1	0	0	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	1	0	0	0	1
Laboratory of Human Genetics, Universidade de São Paulo	1	0	0	0	1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens	1	0	0	0	1
Genome-Nilou Lab	0	0	0	1	1
3billion	0	1	0	0	1
Pediatric Genetics Clinic, Sheba Medical Center	1	0	0	0	1

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