Variants studied for TWIST1-related craniosynostosis; Saethre-Chotzen syndrome

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
43	11	50	11	5	120

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
TWIST1	35	6	36	8	5	90
LOC129998021, TWIST1	8	5	14	3	0	30

Submitter and significance breakdown #

Total submitters: 3

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Invitae	42	11	49	11	5	118
Johns Hopkins Genomics, Johns Hopkins University	1	0	0	0	0	1
New York Genome Center	0	0	1	0	0	1

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