Variants in gene PDZD2 - 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
0	0	272	69	52	390

Condition and significance breakdown #

Total conditions: 4

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Condition	uncertain significance	likely benign	benign	total
not specified	266	19	5	290
PDZD2-related disorder	5	43	44	92
not provided	2	10	13	24
Lissencephaly	1	0	0	1

Submitter and significance breakdown #

Total submitters: 9

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Submitter	uncertain significance	likely benign	benign	total
Ambry Genetics	266	19	0	285
PreventionGenetics, part of Exact Sciences	4	43	44	91
Breakthrough Genomics, Breakthrough Genomics	2	1	11	14
Labcorp Genetics (formerly Invitae), Labcorp	0	3	8	11
CeGaT Center for Human Genetics Tuebingen	0	7	0	7
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University	0	0	5	5
GeneDx	0	0	1	1
Daryl Scott Lab, Baylor College of Medicine	1	0	0	1
Prabudh Goel Research Team, All India Institute Medical Sciences, New Delhi	1	0	0	1

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