Variants studied for Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2

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
5	10	52	216	53	1	333

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	not provided	total
ACTG1	4	10	51	210	48	1	320
ACTG1, LOC130061940	1	0	1	6	5	0	13

Submitter and significance breakdown #

Total submitters: 5

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Invitae	5	9	51	212	52	0	329
Fulgent Genetics, Fulgent Genetics	0	0	0	4	1	0	5
Division of Human Genetics, Children's Hospital of Philadelphia	0	0	1	0	0	0	1
GenomeConnect, ClinGen	0	0	0	0	0	1	1
Molecular Genetics Lab, CHRU Brest	0	1	0	0	0	0	1

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