Variants in gene PIP5K1C

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
6	1	85	65	66	209

Condition and significance breakdown #

Total conditions: 7

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Condition	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
not provided	5	0	23	52	63	132
Inborn genetic diseases	1	0	57	3	0	61
PIP5K1C-related disorder	0	0	0	11	3	14
Lethal congenital contracture syndrome 3	1	1	3	1	4	10
PIP5K1C-related neurodevelopmental disorder	1	0	1	0	0	2
not specified	0	0	2	0	0	2
Novel PIP5K1C-related neurodevelopmental disorder	0	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 16

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
GeneDx	3	0	22	28	44	97
Ambry Genetics	1	0	57	3	0	61
Breakthrough Genomics, Breakthrough Genomics	0	0	0	17	30	47
Labcorp Genetics (formerly Invitae), Labcorp	0	0	0	14	19	33
CeGaT Center for Human Genetics Tuebingen	2	0	1	10	3	16
PreventionGenetics, part of Exact Sciences	0	0	0	11	3	14
Genome-Nilou Lab	0	0	0	0	4	4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	0	2	0	0	2
Undiagnosed Diseases Network, NIH	1	0	1	0	0	2
OMIM	1	0	0	0	0	1
Revvity Omics, Revvity	0	0	1	0	0	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	1	0	0	0	1
Fulgent Genetics, Fulgent Genetics	0	0	1	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	0	0	1	0	0	1
Centre for Medical Genetics, Mumbai	0	0	0	1	0	1
Telethon Undiagnosed Disease Program	0	0	1	0	0	1

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