Variants studied for Shprintzen-Goldberg syndrome

Minimum submission review status:		Collection method:
Minimum conflict level:
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
19	6	93	16	11	139

Gene and significance breakdown #

Total genes and gene combinations: 4

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
SKI	14	6	91	16	11	132
KIFBP	5	0	0	0	0	5
ACAP3, ACTRT2, AGRN, ANKRD65, ATAD3A, ATAD3B, ATAD3C, AURKAIP1, B3GALT6, C1QTNF12, C1orf159, CALML6, CCNL2, CDK11A, CDK11B, CFAP74, CPTP, DVL1, FAAP20, FNDC10, GABRD, GNB1, HES5, INTS11, MIB2, MIR200A, MIR200B, MIR429, MMEL1, MMP23B, MORN1, MRPL20, MXRA8, NADK, PANK4, PEX10, PLCH2, PRKCZ, PRXL2B, PUSL1, RER1, RNF223, SCNN1D, SDF4, SKI, SLC35E2A, SLC35E2B, SSU72, TAS1R3, TMEM240, TMEM52, TMEM88B, TNFRSF14, TNFRSF18, TNFRSF4, TTC34, TTLL10, UBE2J2, VWA1	0	0	1	0	0	1
LOC112577524, SKI	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
Invitae	3	2	86	11	3	105
OMIM	15	0	0	0	0	15
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	0	0	4	11	15
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University	9	0	0	0	0	9
Fulgent Genetics,Fulgent Genetics	0	0	6	0	0	6
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	0	4	0	0	4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	1	1	0	0	0	2
Baylor Genetics	0	0	1	0	0	1
Genetic Services Laboratory, University of Chicago	0	1	0	0	0	1
Mendelics	0	0	0	1	0	1
Blueprint Genetics	0	1	0	0	0	1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego	1	0	0	0	0	1
SIB Swiss Institute of Bioinformatics	0	1	0	0	0	1

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