Variants studied for Cone-rod dystrophy 13; Leber congenital amaurosis 6

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	total
91	16	406	269	37	816

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	total
RPGRIP1	90	16	405	269	37	814
CHD8, HNRNPC, METTL3, RAB2B, RPGRIP1, SALL2, SUPT16H, TOX4	0	0	1	0	0	1
CHD8, METTL3, RAB2B, RPGRIP1, SALL2, SUPT16H, TOX4	1	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	total
Labcorp Genetics (formerly Invitae), Labcorp	90	16	404	268	37	815
Fulgent Genetics, Fulgent Genetics	2	0	3	1	0	6

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