Variants studied for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13

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
4	0	85	91	6	1	185

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	pathogenic	uncertain significance	likely benign	benign	not provided	total
B4GAT1	4	84	91	6	1	184
B4GAT1, BBS1, BRMS1, DPP3, MRPL11, NPAS4, PELI3, RIN1, SLC29A2	0	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 9

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Submitter	pathogenic	uncertain significance	likely benign	benign	not provided	total
Labcorp Genetics (formerly Invitae), Labcorp	0	82	91	6	0	179
OMIM	2	0	0	0	0	2
Revvity Omics, Revvity	0	2	0	0	0	2
Institute of Human Genetics, Cologne University	0	1	0	0	0	1
MGZ Medical Genetics Center	1	0	0	0	0	1
Fulgent Genetics, Fulgent Genetics	0	1	0	0	0	1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	1	0	0	0	0	1
GenomeConnect, ClinGen	0	0	0	0	1	1
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	1	1

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