Variants in gene MAP4K4 - ClinVar Miner

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	5	118	7	45	179

Condition and significance breakdown #

Total conditions: 6

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Condition	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
not provided	0	2	58	2	45	107
Inborn genetic diseases	4	0	61	5	0	70
Cerebral arteriovenous malformation	0	1	0	0	0	1
Imperforate anus; Renal dysplasia	0	1	0	0	0	1
MAP4K4-related neurodevelopmental delay	0	1	0	0	0	1
not specified	0	0	0	1	0	1

Submitter and significance breakdown #

Total submitters: 11

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
GeneDx	0	1	53	1	42	97
Ambry Genetics	4	0	61	5	0	70
Breakthrough Genomics, Breakthrough Genomics	0	0	0	1	32	33
Labcorp Genetics (formerly Invitae), Labcorp	0	0	0	1	3	4
OMIM	0	0	2	0	0	2
Quest Diagnostics Nichols Institute San Juan Capistrano	0	0	2	0	0	2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	0	1	0	0	0	1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg	0	1	0	0	0	1
CeGaT Center for Human Genetics Tuebingen	0	0	1	0	0	1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital	0	1	0	0	0	1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn	0	1	0	0	0	1

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