Variants studied for Capillary malformation-arteriovenous malformation 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)

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
149	37	613	523	36	1358

Gene and significance breakdown #

Total genes and gene combinations: 5

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
CCNH, RASA1	119	34	415	430	29	1027
RASA1	26	3	198	93	7	327
EPHB4	2	0	0	0	0	2
CCNH, LOC644285, RASA1	1	0	0	0	0	1
EPHB4, LOC126860124	1	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 5

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	146	36	613	523	36	1354
Clinical Genetics Laboratory, Skane University Hospital Lund	1	0	0	0	0	1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	1	0	0	0	0	1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego	0	1	0	0	0	1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital	1	0	0	0	0	1

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