Variants studied for Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay 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
29	12	865	656	34	1595

Gene and significance breakdown #

Total genes and gene combinations: 1

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
DIAPH1	29	12	865	656	34	1595

Submitter and significance breakdown #

Total submitters: 6

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	29	12	862	655	33	1591
Fulgent Genetics, Fulgent Genetics	0	0	5	3	2	10
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	0	1	0	0	1
Department of Pathology and Laboratory Medicine, Sinai Health System	0	0	1	0	0	1
Juno Genomics, Hangzhou Juno Genomics, Inc	0	0	1	0	0	1
New York Genome Center	0	0	1	0	0	1

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