Variants studied for Leber congenital amaurosis 17

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
4	0	204	160	31	390

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	pathogenic	uncertain significance	likely benign	benign	total
GDF6	4	203	160	31	389
CFAP418, GDF6, MTERF3, NDUFAF6, PLEKHF2, PTDSS1, UQCRB	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 5

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Submitter	pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	0	199	159	31	389
Department of Pathology and Laboratory Medicine, Sinai Health System	0	7	0	0	7
OMIM	4	0	0	0	4
Baylor Genetics	0	2	0	0	2
Fulgent Genetics, Fulgent Genetics	0	0	1	0	1

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