Variants in gene combination EFCAB10, RINT1

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	186	93	9	282

Condition and significance breakdown #

Total conditions: 6

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Condition	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Hereditary cancer-predisposing syndrome	0	0	129	68	5	202
not provided	6	1	111	52	8	176
RINT1-related condition	0	0	0	2	4	6
Infantile liver failure syndrome 3	0	0	2	0	2	4
not specified	0	0	0	0	2	2
Hereditary breast ovarian cancer syndrome	0	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 11

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Ambry Genetics	0	0	129	68	5	202
Invitae	6	1	111	50	8	176
PreventionGenetics, part of Exact Sciences	0	0	0	2	4	6
CeGaT Center for Human Genetics Tuebingen	0	0	0	3	1	4
Department of Pathology and Laboratory Medicine, Sinai Health System	0	0	1	0	1	2
Genome-Nilou Lab	0	0	0	0	2	2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	0	0	0	0	1	1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	0	0	1	0	0	1
Undiagnosed Diseases Network, NIH	0	0	1	0	0	1
Cancer Genomics Group, Japanese Foundation For Cancer Research	0	0	1	0	0	1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	0	1	0	0	1

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