Variants studied for Multiple gastrointestinal atresias

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	not provided	total
39	13	381	370	45	1	840

Gene and significance breakdown #

Total genes and gene combinations: 4

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
TTC7A	35	12	331	337	38	0	745
MCFD2, TTC7A	3	0	29	14	3	0	49
LOC126806211, TTC7A	1	1	20	19	4	1	45
CALM2, STPG4, TTC7A	0	0	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 13

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Invitae	37	10	372	369	45	0	833
Baylor Genetics	0	1	5	0	0	0	6
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	0	5	0	0	0	5
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology	0	2	0	0	0	0	2
Genome Diagnostics Laboratory, University Medical Center Utrecht	0	0	0	0	1	0	1
Mayo Clinic Laboratories, Mayo Clinic	0	0	1	0	0	0	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	1	0	0	0	0	0	1
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	1	0	0	0	0	1
Pediatrie Multidisciplinaire, Assitance Publique des Hopitaux de Marseille	1	0	0	0	0	0	1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	0	0	0	1	0	0	1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital	0	0	0	1	0	0	1
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	1	1
Neuberg Centre For Genomic Medicine, NCGM	0	0	1	0	0	0	1

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