Variants studied for Hereditary sensory and autonomic neuropathy type 6; Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency

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	not provided	total
125	33	2039	1037	149	13	3377

Gene and significance breakdown #

Total genes and gene combinations: 5

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
DST	121	33	1993	1028	145	13	3314
DST, LOC129996656	1	0	24	6	1	0	32
DST, LOC129389544	2	0	21	3	3	0	29
intergenic	1	0	0	0	0	0	1
DST, LOC129389544, LOC129996656	0	0	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 6

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Labcorp Genetics (formerly Invitae), Labcorp	125	29	2038	1033	149	0	3374
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	12	12
First Genomix Gene Laboratory, Genetic Diagnostics Department	0	4	0	0	0	0	4
Fulgent Genetics, Fulgent Genetics	0	0	0	4	0	0	4
Juno Genomics, Hangzhou Juno Genomics, Inc	0	0	2	0	0	0	2
GenomeConnect, ClinGen	0	0	0	0	0	1	1

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