Variants in gene CEP97 - 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	1	190	84	14	287

Condition and significance breakdown #

Total conditions: 3

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Condition	likely pathogenic	uncertain significance	likely benign	benign	total
not provided	0	153	82	14	248
not specified	0	64	2	0	66
Global developmental delay; Intellectual disability	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 5

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Submitter	likely pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	0	153	81	14	248
Ambry Genetics	0	64	2	0	66
Breakthrough Genomics, Breakthrough Genomics	0	0	1	5	6
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	1	0	0	0	1
CeGaT Center for Human Genetics Tuebingen	0	0	1	0	1

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