Variants studied for Retinitis pigmentosa 12; Leber congenital amaurosis 8

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
309	87	425	739	31	1	1591

Gene and significance breakdown #

Total genes and gene combinations: 3

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
CRB1	307	87	425	739	31	1	1589
ASPM, CFHR2, CFHR5, CRB1, DENND1B, F13B, ZBTB41	1	0	0	0	0	0	1
ASPM, CRB1, ZBTB41	1	0	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 2

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Labcorp Genetics (formerly Invitae), Labcorp	309	87	425	739	31	0	1591
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	1	1

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