Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_001122769.3(LCA5):c.835C>T (p.Gln279Ter)	SNV Germline	Chr6:79493636	Pathogenic	Leber congenital amaurosis 5 Inborn genetic diseases Condition: not provided Retinal dystrophy Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA204615	rs_121918165	16 SubmittersRCV000001019 RCV000190663 RCV000812173 RCV001073263 RCV001003073
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)	SNV Germline	Chr12:88077263	Pathogenic/Likely pathogenic	Joubert syndrome 5 Condition: not provided Nephronophthisis Meckel-Gruber syndrome Joubert syndrome Meckel-Gruber syndrome Retinal dystrophy Retinitis pigmentosa Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Joubert syndrome 5 Meckel syndrome, type 6 Leber congenital amaurosis Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 COG7 congenital disorder of glycosylation Abnormality of the nervous system Bardet-Biedl syndrome 14 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 Leber congenital amaurosis 10 CEP290-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA150917	rs_137852832	31 SubmittersRCV000001396 RCV000086298 RCV000531295 RCV000114202 RCV001073790 RCV000787813 RCV000515339 RCV001261607 RCV001276487 RCV001000092 RCV001002714 RCV001815157 RCV001836688 RCV001542773 RCV001836689 RCV004798711 RCV003147273
NM_025114.4(CEP290):c.21G>T (p.Trp7Cys)	SNV Germline	Chr12:88141287	Pathogenic	Joubert syndrome 5 Condition: not provided Leber congenital amaurosis Nephronophthisis Meckel-Gruber syndrome Joubert syndrome Nephronophthisis	Criteria Provided Multiple Submitters No Conflicts	CA227962	rs_62635288	6 SubmittersRCV000001398 RCV000086283 RCV000505111 RCV001851540 RCV001328051
NM_025114.4(CEP290):c.2991+1655A>G	SNV Germline	Chr12:88101183	Pathogenic/Likely pathogenic	Leber congenital amaurosis 10 Condition: not provided Retinitis pigmentosa Nephronophthisis Meckel-Gruber syndrome Joubert syndrome Meckel syndrome, type 4 Leber congenital amaurosis 10 Joubert syndrome 5 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Joubert syndrome 1 Retinal dystrophy Intellectual disability Joubert syndrome 5 CEP290-related disorder Leber congenital amaurosis Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA227965	rs_281865192	25 SubmittersRCV000001400 RCV000086286 RCV000678535 RCV000558460 RCV000763315 RCV000988884 RCV001075828 RCV001255341 RCV001196010 RCV001731267 RCV001831503 RCV003460403
NM_025114.4(CEP290):c.2249T>G (p.Leu750Ter)	SNV Germline	Chr12:88111320	Pathogenic	Leber congenital amaurosis 10 Nephronophthisis Meckel-Gruber syndrome Joubert syndrome Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA339890	rs_137852833	3 SubmittersRCV000001401 RCV001851541 RCV003466777
NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter)	SNV Germline	Chr12:88083936	Pathogenic	Joubert syndrome 5 Leber congenital amaurosis 10 Condition: not provided not specified Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Joubert syndrome 5 Retinal dystrophy Blindness Nystagmus Central hypotonia Molar tooth sign on MRI Senior-Loken syndrome 6 Leber congenital amaurosis Nephronophthisis Meckel-Gruber syndrome Joubert syndrome CEP290-related ciliopathy Bardet-Biedl syndrome 14 CEP290-related disorder Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA251751	rs_137852834	22 SubmittersRCV000001402 RCV000001403 RCV000484693 RCV000508230 RCV000763312 RCV001075829 RCV000415219 RCV000415120 RCV001002715 RCV001831504 RCV001046610 RCV003492281 RCV003466778 RCV003155008 RCV004975257
NM_025114.4(CEP290):c.613C>T (p.Arg205Ter)	SNV Germline	Chr12:88130324	Pathogenic	Meckel syndrome, type 4 Polycystic kidney disease Severe hydrocephalus Encephalocele Leber congenital amaurosis Nephronophthisis Meckel-Gruber syndrome Joubert syndrome Leber congenital amaurosis 10 Condition: not provided Retinal dystrophy Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Joubert syndrome 5 Bardet-Biedl syndrome 14 CEP290-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA114937	rs_137852835	10 SubmittersRCV000001407 RCV001257362 RCV001274134 RCV001042869 RCV001376372 RCV001781163 RCV003887847 RCV002496228 RCV003466779 RCV004732519
NM_025114.4(CEP290):c.5704G>T (p.Glu1902Ter)	SNV Germline	Chr12:88077227	Pathogenic/Likely pathogenic	Bardet-Biedl syndrome 14 Joubert syndrome 5 Meckel syndrome, type 6 Leber congenital amaurosis 10	Criteria Provided Multiple Submitters No Conflicts	CA251753	rs_267606719	4 SubmittersRCV000001410 RCV000201631 RCV001261609 RCV004760315
NM_018418.5(SPATA7):c.322C>T (p.Arg108Ter)	SNV Germline	Chr14:88416794	Pathogenic/Likely pathogenic	Leber congenital amaurosis 3 SPATA7-related disorder Condition: not provided Leber congenital amaurosis Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA339892	rs_80044281	11 SubmittersRCV000001460 RCV000358776 RCV001699098 RCV003987304 RCV004814791
NM_018418.5(SPATA7):c.1183C>T (p.Arg395Ter)	SNV Germline	Chr14:88437565	Pathogenic/Likely pathogenic	Leber congenital amaurosis 3 Condition: not provided Retinitis pigmentosa 94, variable age at onset Leber congenital amaurosis Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA339895	rs_75895925	10 SubmittersRCV000001462 RCV001291573 RCV002260581 RCV003485517 RCV003887848
NM_152443.3(RDH12):c.677A>G (p.Tyr226Cys)	SNV Germline	Chr14:67729209	Pathogenic/Likely pathogenic	Leber congenital amaurosis 13 Retinal dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA252077	rs_28940313	7 SubmittersRCV000002127 RCV001073384 RCV001092306
NM_152443.3(RDH12):c.565C>T (p.Gln189Ter)	SNV Germline	Chr14:67727097	Pathogenic	Leber congenital amaurosis 13	Criteria Provided Single Submitter	CA252078	rs_104894470	2 SubmittersRCV000002129
NM_152443.3(RDH12):c.146C>T (p.Thr49Met)	SNV Germline	Chr14:67724550	Pathogenic	Leber congenital amaurosis 13 Condition: not provided Leber congenital amaurosis Cone-rod dystrophy Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA252080	rs_28940314	15 SubmittersRCV000002130 RCV001091051 RCV001277201 RCV002267718 RCV004814796
NM_152443.3(RDH12):c.184C>T (p.Arg62Ter)	SNV Germline	Chr14:67724588	Pathogenic	Leber congenital amaurosis 13 Retinal dystrophy Condition: not provided Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA252081	rs_104894471	18 SubmittersRCV000002131 RCV001075533 RCV001567801 RCV001254729
NM_152443.3(RDH12):c.379G>T (p.Gly127Ter)	SNV Germline	Chr14:67726086	Pathogenic	Leber congenital amaurosis 13 Retinitis pigmentosa Condition: not provided Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA252083	rs_104894474	7 SubmittersRCV000002132 RCV000787672 RCV001091054 RCV004814797
NM_152443.3(RDH12):c.451C>A (p.His151Asn)	SNV Germline	Chr14:67726983	Pathogenic	Leber congenital amaurosis 13	No Assertion Criteria Provided	CA252085	rs_104894475	2 SubmittersRCV000002133
NM_152443.3(RDH12):c.688C>G (p.Pro230Ala)	SNV Germline	Chr14:67729220	Pathogenic	Leber congenital amaurosis 13	No Assertion Criteria Provided	CA252086	rs_104894476	2 SubmittersRCV000002134
NM_152443.3(RDH12):c.451C>G (p.His151Asp)	SNV Germline	Chr14:67726983	Pathogenic	Leber congenital amaurosis 13 Retinitis pigmentosa Condition: not provided Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA252087	rs_104894475	7 SubmittersRCV000002135 RCV000787674 RCV001171675 RCV004814798
NM_152443.3(RDH12):c.295C>A (p.Leu99Ile)	SNV Germline	Chr14:67725206	Pathogenic/Likely pathogenic	Leber congenital amaurosis 13 Condition: not provided Retinitis pigmentosa Retinal dystrophy Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA252088	rs_28940315	19 SubmittersRCV000002136 RCV000594844 RCV000993758 RCV001075855 RCV001277202
NM_152443.3(RDH12):c.523T>C (p.Ser175Pro)	SNV Germline	Chr14:67727055	Pathogenic	Leber congenital amaurosis 13	No Assertion Criteria Provided	CA252089	rs_104894472	2 SubmittersRCV000002137
NM_152443.3(RDH12):c.152T>A (p.Ile51Asn)	SNV Germline	Chr14:67724556	Likely pathogenic	Leber congenital amaurosis 13	Criteria Provided Single Submitter	CA252090	rs_104894473	3 SubmittersRCV000002138
NM_152443.3(RDH12):c.658+1G>A	SNV Germline	Chr14:67727191	Pathogenic	Leber congenital amaurosis 13 Retinitis pigmentosa	Criteria Provided Multiple Submitters No Conflicts	CA252091	rs_387906272	5 SubmittersRCV000002139 RCV001003155
NM_152443.3(RDH12):c.464C>T (p.Thr155Ile)	SNV Germline	Chr14:67726996	Pathogenic/Likely pathogenic	Leber congenital amaurosis 13 Condition: not provided Leber congenital amaurosis Cone-rod dystrophy See cases Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA252092	rs_121434337	12 SubmittersRCV000002140 RCV001091055 RCV001826405 RCV003324481 RCV004584306 RCV004814799
NM_152443.3(RDH12):c.377C>T (p.Ala126Val)	SNV Germline	Chr14:67726084	Pathogenic/Likely pathogenic	Retinitis pigmentosa 53 Retinitis pigmentosa Retinal dystrophy Leber congenital amaurosis 13 Condition: not provided Leber congenital amaurosis RDH12-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA115315	rs_202126574	11 SubmittersRCV000002142 RCV000132691 RCV001073666 RCV001223788 RCV001558134 RCV003155010 RCV004734494
NM_020366.4(RPGRIP1):c.194G>A (p.Trp65Ter)	SNV Germline	Chr14:21294785	Pathogenic	Leber congenital amaurosis 6 Leber congenital amaurosis	No Assertion Criteria Provided	CA117158	rs_137853124	2 SubmittersRCV000005271 RCV000787885
NM_014336.5(AIPL1):c.834G>A (p.Trp278Ter)	SNV Germline	Chr17:6425781	Pathogenic	Leber congenital amaurosis 4 Condition: not provided AIPL1-related disorder Leber congenital amaurosis Retinal dystrophy Leber congenital amaurosis 4 Retinitis pigmentosa AIPL1-related retinopathy	Criteria Provided Multiple Submitters No Conflicts	CA227899	rs_62637014	30 SubmittersRCV000005906 RCV000086235 RCV000365317 RCV000505017 RCV001074840 RCV002496274 RCV004786238
NM_014336.5(AIPL1):c.715T>C (p.Cys239Arg)	SNV Germline	Chr17:6426684	Conflicting classifications of pathogenicity	Leber congenital amaurosis 4 Condition: not provided Leber congenital amaurosis	Criteria Provided Conflicting Classifications	CA227892	rs_62637012	6 SubmittersRCV000005908 RCV000086231 RCV004585988
NM_201253.3(CRB1):c.3122T>C (p.Met1041Thr)	SNV Germline	Chr1:197434985	Pathogenic	Retinitis pigmentosa 12 Condition: not provided Retinitis pigmentosa 12 Leber congenital amaurosis 8 Leber congenital amaurosis 8 Pigmented paravenous retinochoroidal atrophy CRB1-related disorder Retinal dystrophy Retinitis pigmentosa 12 Pigmented paravenous retinochoroidal atrophy Leber congenital amaurosis 8	Criteria Provided Multiple Submitters No Conflicts	CA228031	rs_62635656	11 SubmittersRCV000006084 RCV000086336 RCV001045972 RCV001250615 RCV003450614 RCV004528086 RCV001075294 RCV005007827
NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys)	SNV Germline	Chr1:197427615	Pathogenic/Likely pathogenic	Retinitis pigmentosa 12 Condition: not provided Retinal dystrophy Leber congenital amaurosis 8 Retinitis pigmentosa Leber congenital amaurosis 8 Retinitis pigmentosa 12 Macular dystrophy CRB1-related maculopathy Retinitis pigmentosa-deafness syndrome Leber congenital amaurosis 8 Pigmented paravenous retinochoroidal atrophy Retinitis pigmentosa 12 CRB1-related disorder Pigmented paravenous retinochoroidal atrophy Cone-rod dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA228006	rs_62635654	25 SubmittersRCV000006086 RCV000086317 RCV001074882 RCV001250604 RCV000787577 RCV001052374 RCV000656137 RCV001352991 RCV003447471 RCV002496279 RCV004540990 RCV003450615 RCV005417417
NM_201253.3(CRB1):c.2234C>T (p.Thr745Met)	SNV Germline	Chr1:197427559	Pathogenic/Likely pathogenic	Retinitis pigmentosa 12 Condition: not provided Leber congenital amaurosis 8 Retinitis pigmentosa 12 Retinitis pigmentosa Leber congenital amaurosis 8 Retinal dystrophy Autosomal recessive retinitis pigmentosa Pigmented paravenous retinochoroidal atrophy Leber congenital amaurosis Leber congenital amaurosis 8 Retinitis pigmentosa 12 Pigmented paravenous retinochoroidal atrophy	Criteria Provided Multiple Submitters No Conflicts	CA228003	rs_28939720	25 SubmittersRCV000006087 RCV000086315 RCV000809110 RCV000787576 RCV001250601 RCV001074789 RCV001257864 RCV001196030 RCV001826422 RCV002496280
NM_201253.3(CRB1):c.3299T>G (p.Ile1100Arg)	SNV Germline	Chr1:197435162	Likely pathogenic	Leber congenital amaurosis 8 Condition: not provided Retinitis pigmentosa 12 Pigmented paravenous retinochoroidal atrophy Leber congenital amaurosis 8	Criteria Provided Single Submitter	CA117707	rs_62635659	3 SubmittersRCV000006088 RCV000086340 RCV002490326
NM_201253.3(CRB1):c.3997G>T (p.Glu1333Ter)	SNV Germline	Chr1:197442284	Pathogenic	Leber congenital amaurosis 8	No Assertion Criteria Provided	CA117708	rs_137853136	1 SubmittersRCV000006089
NM_201253.3(CRB1):c.2401A>T (p.Lys801Ter)	SNV Germline	Chr1:197427726	Pathogenic	Retinitis pigmentosa 12 Condition: not provided Leber congenital amaurosis 8 Retinitis pigmentosa 12 Retinal dystrophy Leber congenital amaurosis 8 Retinitis pigmentosa Leber congenital amaurosis Leber congenital amaurosis 8 Retinitis pigmentosa 12 Pigmented paravenous retinochoroidal atrophy Pigmented paravenous retinochoroidal atrophy CRB1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA203531	rs_137853137	16 SubmittersRCV000006090 RCV000578757 RCV000691427 RCV000787826 RCV001250606 RCV000787578 RCV001275651 RCV002504753 RCV003450616 RCV004739293
NM_201253.3(CRB1):c.3541T>C (p.Cys1181Arg)	SNV Germline	Chr1:197435404	Likely pathogenic	Retinitis pigmentosa 12 Condition: not provided Retinal dystrophy Leber congenital amaurosis	Criteria Provided Single Submitter	CA228041	rs_62636291	4 SubmittersRCV000006091 RCV000086346 RCV004814842 RCV005614367
NM_201253.3(CRB1):c.484G>A (p.Val162Met)	SNV Germline	Chr1:197328835	Conflicting classifications of pathogenicity	Pigmented paravenous retinochoroidal atrophy not specified Retinitis pigmentosa Leber congenital amaurosis 8 Condition: not provided Leber congenital amaurosis 8 Retinitis pigmentosa 12	Criteria Provided Conflicting Classifications	CA117710	rs_137853138	8 SubmittersRCV000006092 RCV000082821 RCV000353078 RCV000262530 RCV000723716 RCV001080229
NM_201253.3(CRB1):c.3307G>A (p.Gly1103Arg)	SNV Germline	Chr1:197435170	Pathogenic	Leber congenital amaurosis 8 Retinitis pigmentosa 12 Condition: not provided Retinitis pigmentosa 12 Leber congenital amaurosis 8 Leber congenital amaurosis Retinal dystrophy Pigmented paravenous retinochoroidal atrophy Early-onset retinal dystrophy Retinitis pigmentosa 12 Pigmented paravenous retinochoroidal atrophy Leber congenital amaurosis 8	Criteria Provided Multiple Submitters No Conflicts	CA117711	rs_62636275	15 SubmittersRCV000006093 RCV000006094 RCV000086341 RCV000648818 RCV001002998 RCV001073404 RCV003450617 RCV000786009 RCV005007828
NM_000843.4(GRM6):c.1861C>T (p.Arg621Ter)	SNV Germline	Chr5:178986393	Pathogenic	Congenital stationary night blindness 1B Condition: not provided Leber congenital amaurosis Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA117799	rs_62638214	8 SubmittersRCV000006197 RCV000086036 RCV000787608 RCV001074243
NM_003835.4(RGS9):c.895T>C (p.Trp299Arg)	SNV Germline	Chr17:65197160	Pathogenic	Bradyopsia Leber congenital amaurosis Condition: not provided	Criteria Provided Single Submitter	CA117815	rs_121908449	5 SubmittersRCV000006220 RCV000787876 RCV001052039
NM_003322.6(TULP1):c.1376T>A (p.Ile459Lys)	SNV Germline	Chr6:35500100	Likely pathogenic	Retinitis pigmentosa 14 Condition: not provided Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA254155	rs_121909075	3 SubmittersRCV000007784 RCV002512878 RCV005406730
NM_003322.6(TULP1):c.1145T>C (p.Phe382Ser)	SNV Germline	Chr6:35503816	Pathogenic	Retinitis pigmentosa 14 Retinitis pigmentosa Retinal dystrophy Condition: not provided Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA254156	rs_121909076	6 SubmittersRCV000007787 RCV000132649 RCV003887856 RCV002512879 RCV005430923
NM_003322.6(TULP1):c.1444C>T (p.Arg482Trp)	SNV Germline	Chr6:35500032	Conflicting classifications of pathogenicity	Retinitis pigmentosa 14 Condition: not provided Leber congenital amaurosis	Criteria Provided Conflicting Classifications	CA254157	rs_121909077	4 SubmittersRCV000007788 RCV001386009 RCV005237358
NM_000554.6(CRX):c.239A>C (p.Glu80Ala)	SNV Germline	Chr19:47836381	Pathogenic	Cone-rod dystrophy 2 Condition: not provided Leber congenital amaurosis 7 Cone-rod dystrophy 2	Criteria Provided Multiple Submitters No Conflicts	CA118789	rs_104894671	5 SubmittersRCV000007841 RCV000085995 RCV001386170
NM_000554.6(CRX):c.121C>T (p.Arg41Trp)	SNV Germline	Chr19:47836263	Pathogenic/Likely pathogenic	Cone-rod dystrophy 2 Condition: not provided Cone-rod dystrophy 2 Leber congenital amaurosis 7 Retinal dystrophy Cone-rod dystrophy Retinitis pigmentosa	Criteria Provided Multiple Submitters No Conflicts	CA118790	rs_104894672	14 SubmittersRCV000007843 RCV000085989 RCV001386169 RCV001073396 RCV003324484 RCV003324485
NM_000554.6(CRX):c.122G>A (p.Arg41Gln)	SNV Germline	Chr19:47836264	Pathogenic/Likely pathogenic	Cone-rod dystrophy 2 Condition: not provided Cone-rod dystrophy 2 Leber congenital amaurosis 7 Retinal dystrophy CRX-related disorder Cone-rod dystrophy Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA118791	rs_61748436	11 SubmittersRCV000007846 RCV000085990 RCV001059718 RCV001075469 RCV004755718 RCV005417420 RCV005318310
NM_000554.6(CRX):c.268C>T (p.Arg90Trp)	SNV Germline	Chr19:47839335	Pathogenic/Likely pathogenic	Leber congenital amaurosis 7 Condition: not provided Retinal dystrophy Cone-rod dystrophy 2 Leber congenital amaurosis 7	Criteria Provided Multiple Submitters No Conflicts	CA118792	rs_104894673	8 SubmittersRCV000007847 RCV000086364 RCV001074643 RCV001244346
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp)	SNV Germline	Chr7:92501562	Pathogenic	Peroxisome biogenesis disorder Leber congenital amaurosis Peroxisome biogenesis disorder 1A (Zellweger) Condition: not provided Peroxisome biogenesis disorder 1B Heimler syndrome 1 Peroxisome biogenesis disorder 1B Peroxisome biogenesis disorder 1A (Zellweger) Heimler syndrome 1 Peroxisomal disorder Peroxisome biogenesis disorder 1B Peroxisome biogenesis disorder 1A (Zellweger) Retinal dystrophy Inborn genetic diseases Zellweger spectrum disorders not specified PEX1-related disorder Peroxisome biogenesis disorder due to PEX1 defect	Criteria Provided Multiple Submitters No Conflicts	CA220977	rs_61750420	42 SubmittersRCV000007946 RCV000022416 RCV000032927 RCV000078922 RCV000345695 RCV000661947 RCV000763596 RCV000791271 RCV001004322 RCV001074120 RCV001266794 RCV001376560 RCV001731280 RCV003398462 RCV004786245
NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter)	SNV Germline	Chr1:94005500	Pathogenic/Likely pathogenic	Retinal dystrophy, early-onset severe Condition: not provided Retinal dystrophy Severe early-childhood-onset retinal dystrophy Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Age related macular degeneration 2 Cone-rod dystrophy 3 Stargardt disease Retinitis pigmentosa 19 ABCA4-related retinopathy Leber congenital amaurosis 14 ABCA4-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA119140	rs_61751383	22 SubmittersRCV000008365 RCV000085786 RCV000504794 RCV000505162 RCV000763437 RCV000787773 RCV001542555 RCV002512903 RCV003447472 RCV004528093
NM_001001557.4(GDF6):c.746C>A (p.Ala249Glu)	SNV Germline	Chr8:96145185	Conflicting classifications of pathogenicity	Klippel-Feil syndrome 1, autosomal dominant Isolated microphthalmia 4 Leber congenital amaurosis 17 Klippel-Feil syndrome not specified Condition: not provided Klippel-Feil syndrome 1, autosomal dominant Congenital anomaly of kidney and urinary tract Isolated microphthalmia 4 Leber congenital amaurosis 17 Klippel-Feil syndrome 1, autosomal dominant Microphthalmia, isolated, with coloboma 6 Congenital anomaly of kidney and urinary tract GDF6-related disorder Isolated microphthalmia 4 Multiple synostoses syndrome 4 Leber congenital amaurosis 17 Klippel-Feil syndrome 1, autosomal dominant Microphthalmia, isolated, with coloboma 6 Retinal dystrophy	Criteria Provided Conflicting Classifications	CA119555	rs_121909352	13 SubmittersRCV000008876 RCV000008877 RCV000054424 RCV000353571 RCV000428033 RCV000767010 RCV001255226 RCV001522988 RCV001255227 RCV003934812 RCV005400409 RCV004814864
NM_001001557.4(GDF6):c.866T>C (p.Leu289Pro)	SNV Germline	Chr8:96145065	Conflicting classifications of pathogenicity	Klippel-Feil syndrome 1, autosomal dominant Condition: not provided Klippel-Feil syndrome 1, autosomal dominant Isolated microphthalmia 4 Microphthalmia, isolated, with coloboma 6 Leber congenital amaurosis 17 GDF6-related disorder Klippel-Feil syndrome 1, autosomal dominant Isolated microphthalmia 4 Multiple synostoses syndrome 4 Microphthalmia, isolated, with coloboma 6 Leber congenital amaurosis 17	Criteria Provided Conflicting Classifications	CA119556	rs_63751220	5 SubmittersRCV000008878 RCV000255695 RCV001399723 RCV003952350 RCV005400410
NM_001001557.4(GDF6):c.1271A>G (p.Lys424Arg)	SNV Germline	Chr8:96144660	Conflicting classifications of pathogenicity	Klippel-Feil syndrome 1, autosomal dominant Klippel-Feil syndrome Klippel-Feil syndrome 1, autosomal dominant Autosomal dominant Parkinson disease 8 Klippel-Feil syndrome 1, autosomal dominant Isolated microphthalmia 4 Microphthalmia, isolated, with coloboma 6 Leber congenital amaurosis 17 Leber congenital amaurosis 17 Klippel-Feil syndrome 1, autosomal dominant Isolated microphthalmia 4 Multiple synostoses syndrome 4 Microphthalmia, isolated, with coloboma 6 Leber congenital amaurosis 17	Criteria Provided Conflicting Classifications	CA119557	rs_121909353	6 SubmittersRCV000008879 RCV000287766 RCV000984889 RCV001429590 RCV003152588 RCV005400411
NM_000180.4(GUCY2D):c.1694T>C (p.Phe565Ser)	SNV Germline	Chr17:8009531	Pathogenic	Leber congenital amaurosis 1 Condition: not provided GUCY2D-related recessive retinopathy	Reviewed By Expert Panel	CA226054	rs_61749755	4 SubmittersRCV000009944 RCV000084839 RCV005053885
NM_000180.4(GUCY2D):c.2512C>T (p.Arg838Cys)	SNV Germline	Chr17:8014700	Pathogenic/Likely pathogenic	Cone-rod dystrophy 6 Condition: not provided Cone dystrophy Cone-rod dystrophy 6 Leber congenital amaurosis 1 Retinal dystrophy Choroidal dystrophy, central areolar, 1 Leber congenital amaurosis 1	Criteria Provided Multiple Submitters No Conflicts	CA226085	rs_61750172	18 SubmittersRCV000009949 RCV000084862 RCV001003042 RCV001065465 RCV001074299 RCV001197374 RCV001376215
NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His)	SNV Germline	Chr17:8014701	Pathogenic/Likely pathogenic	Cone-rod dystrophy 6 Condition: not provided Retinal dystrophy Progressive cone dystrophy (without rod involvement) Leber congenital amaurosis 1 Cone-rod dystrophy 6 Cone dystrophy Retinitis pigmentosa Macular dystrophy Visual impairment Cone-rod dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA226086	rs_61750173	20 SubmittersRCV000009951 RCV000084863 RCV000504851 RCV000787614 RCV001228516 RCV001003043 RCV001723556 RCV001271114 RCV003324497
NM_000329.3(RPE65):c.700C>T (p.Arg234Ter)	SNV Germline	Chr1:68439586	Pathogenic	Leber congenital amaurosis 2 Condition: not provided Retinitis pigmentosa 20 Leber congenital amaurosis 2 Leber congenital amaurosis Retinitis pigmentosa 20 RPE65-related recessive retinopathy Retinal dystrophy	Reviewed By Expert Panel	CA226577	rs_61752895	9 SubmittersRCV000013993 RCV000085219 RCV001236263 RCV001831567 RCV001376448 RCV003460467 RCV004794340
NM_000329.3(RPE65):c.271C>T (p.Arg91Trp)	SNV Germline	Chr1:68444858	Pathogenic	Retinitis pigmentosa 20 Condition: not provided Leber congenital amaurosis 2 Retinitis pigmentosa 20 Retinitis pigmentosa Retinal dystrophy Leber congenital amaurosis 2 RPE65-related disorder Leber congenital amaurosis Retinitis pigmentosa 20 Autosomal recessive retinitis pigmentosa Leber congenital amaurosis Abnormality of the eye RPE65-related recessive retinopathy Retinitis pigmentosa 87 with choroidal involvement Leber congenital amaurosis 2 Retinitis pigmentosa 20	Reviewed By Expert Panel	CA226531	rs_61752871	21 SubmittersRCV000013994 RCV000085184 RCV000527143 RCV000787698 RCV001073556 RCV001250682 RCV001095690 RCV001257818 RCV001275337 RCV001813981 RCV004595852 RCV005031436
NM_000329.3(RPE65):c.1355T>G (p.Val452Gly)	SNV Germline	Chr1:68431160	Likely pathogenic	Retinitis pigmentosa 20 Condition: not provided Retinitis pigmentosa 20 Leber congenital amaurosis 2 not specified Retinitis pigmentosa 20 Retinitis pigmentosa 87 with choroidal involvement Leber congenital amaurosis 2 RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA226509	rs_62637004	7 SubmittersRCV000013995 RCV000085169 RCV001304649 RCV003114190 RCV005025051 RCV004801914
NM_000329.3(RPE65):c.1087C>A (p.Pro363Thr)	SNV Germline	Chr1:68438228	Pathogenic	Retinitis pigmentosa 20 Retinitis pigmentosa 20 Leber congenital amaurosis 2 Leber congenital amaurosis 2 RPE65-related recessive retinopathy Leber congenital amaurosis Retinitis pigmentosa 20 Retinitis pigmentosa 87 with choroidal involvement Leber congenital amaurosis 2	Reviewed By Expert Panel	CA256730	rs_121917744	9 SubmittersRCV000013996 RCV000815732 RCV001250693 RCV003460468 RCV001826460 RCV005025052
NM_000329.3(RPE65):c.1022T>C (p.Leu341Ser)	SNV Germline	Chr1:68438293	Pathogenic	Retinitis pigmentosa 20 Condition: not provided Leber congenital amaurosis 2 RPE65-related recessive retinopathy Retinitis pigmentosa 20 Leber congenital amaurosis 2 Leber congenital amaurosis Retinal dystrophy Retinitis pigmentosa 87 with choroidal involvement Retinitis pigmentosa 20 Leber congenital amaurosis 2	Reviewed By Expert Panel	CA226472	rs_61752909	15 SubmittersRCV000013997 RCV000085141 RCV000986328 RCV003764564 RCV001047062 RCV001831568 RCV004814898 RCV002496352
NM_000329.3(RPE65):c.1543C>T (p.Arg515Trp)	SNV Germline	Chr1:68429835	Pathogenic	Retinitis pigmentosa 20 Leber congenital amaurosis 2 Condition: not provided Retinitis pigmentosa Leber congenital amaurosis Retinitis pigmentosa 20 Leber congenital amaurosis 2 Retinal dystrophy RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA226519	rs_121917745	11 SubmittersRCV000013999 RCV000014000 RCV000085176 RCV000132583 RCV001826461 RCV000816506 RCV003887868 RCV003764565
NM_001164688.2(RD3):c.296+1G>A	SNV Germline	Chr1:211481119	Pathogenic	Leber congenital amaurosis 12	No Assertion Criteria Provided	CA341252	rs_386834260	2 SubmittersRCV000014001
NM_000322.5(PRPH2):c.554T>C (p.Leu185Pro)	SNV Germline	Chr6:42721781	Pathogenic/Likely pathogenic	Retinitis pigmentosa 7, digenic Condition: not provided Leber congenital amaurosis 18 Patterned macular dystrophy 1 Retinal dystrophy Patterned dystrophy of the retinal pigment epithelium PRPH2-related disorder Retinitis pigmentosa	Criteria Provided Multiple Submitters No Conflicts	CA122928	rs_121918563	8 SubmittersRCV000014051 RCV000084987 RCV000149464 RCV000149466 RCV001075516 RCV001250378 RCV001378481 RCV001530305
NM_000883.4(IMPDH1):c.568C>T (p.Arg190Trp)	SNV Germline	Chr7:128400828	Conflicting classifications of pathogenicity	Leber congenital amaurosis 11 Condition: not provided Retinal dystrophy	Criteria Provided Conflicting Classifications	CA124376	rs_121912553	6 SubmittersRCV000015962 RCV000951177 RCV003887873
NM_000883.4(IMPDH1):c.849T>G (p.Asn283Lys)	SNV Germline	Chr7:128400120	Pathogenic	Leber congenital amaurosis 11	No Assertion Criteria Provided	CA124382	rs_121912554	1 SubmittersRCV000015963
NM_000180.4(GUCY2D):c.2512C>A (p.Arg838Ser)	SNV Germline	Chr17:8014700	Pathogenic	Condition: not provided Cone-rod dystrophy 6 Leber congenital amaurosis 1	Criteria Provided Single Submitter	CA226083	rs_61750172	2 SubmittersRCV000084861 RCV001854486
NM_000329.3(RPE65):c.1102T>C (p.Tyr368His)	SNV Germline	Chr1:68438213	Pathogenic	Retinitis pigmentosa 20 Leber congenital amaurosis 2 Condition: not provided Retinitis pigmentosa Leber congenital amaurosis 2 Retinitis pigmentosa 20 Leber congenital amaurosis RPE65-related disorder Retinal dystrophy Leber congenital amaurosis 2 Retinitis pigmentosa 20 Retinitis pigmentosa 87 with choroidal involvement RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA226484	rs_62653011	16 SubmittersRCV000022749 RCV000022750 RCV000085150 RCV000787920 RCV001054423 RCV001275328 RCV000348257 RCV004814916 RCV005025077 RCV003764626
NM_000329.3(RPE65):c.907A>T (p.Lys303Ter)	SNV Germline	Chr1:68439033	Pathogenic	Leber congenital amaurosis 2 Condition: not provided RPE65-related recessive retinopathy Leber congenital amaurosis 2 Retinitis pigmentosa 20 Retinitis pigmentosa 87 with choroidal involvement Leber congenital amaurosis 2 Retinitis pigmentosa 20	Reviewed By Expert Panel	CA226589	rs_61752904	7 SubmittersRCV000022753 RCV000085231 RCV003764627 RCV002490403 RCV002513174
NM_000329.3(RPE65):c.1292A>G (p.Tyr431Cys)	SNV Germline	Chr1:68431328	Likely pathogenic	Leber congenital amaurosis 2 Condition: not provided Leber congenital amaurosis 2 Retinitis pigmentosa 20 RPE65-related recessive retinopathy RPE65-related disorder Leber congenital amaurosis	Reviewed By Expert Panel	CA226500	rs_62636300	8 SubmittersRCV000022754 RCV000085161 RCV001054426 RCV003764628 RCV004732553 RCV003317042
NM_003322.6(TULP1):c.1204G>T (p.Glu402Ter)	SNV Germline	Chr6:35503757	Pathogenic	Leber congenital amaurosis 15	No Assertion Criteria Provided	CA259772	rs_387906835	2 SubmittersRCV000023187
NM_003322.6(TULP1):c.1198C>T (p.Arg400Trp)	SNV Germline	Chr6:35503763	Pathogenic/Likely pathogenic	Leber congenital amaurosis 15 Retinal degeneration Polydactyly, postaxial, type A1 Syndactyly Brachydactyly Retinal dystrophy Condition: not provided Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA259774	rs_387906836	6 SubmittersRCV000023188 RCV000852373 RCV004814918 RCV003556074 RCV005430941
NM_003322.6(TULP1):c.1102G>T (p.Gly368Trp)	SNV Germline	Chr6:35505751	Pathogenic/Likely pathogenic	Leber congenital amaurosis 15 Condition: not provided Leber congenital amaurosis Retinal dystrophy Retinitis pigmentosa 14 Leber congenital amaurosis 15	Criteria Provided Multiple Submitters No Conflicts	CA259775	rs_387906837	6 SubmittersRCV000023189 RCV001857359 RCV004586021 RCV004814919 RCV005042082
NM_002242.4(KCNJ13):c.496C>T (p.Arg166Ter)	SNV Germline	Chr2:232768778	Pathogenic	Leber congenital amaurosis 16	No Assertion Criteria Provided	CA259778	rs_387906858	2 SubmittersRCV000023266
NM_002242.4(KCNJ13):c.722T>C (p.Leu241Pro)	SNV Germline	Chr2:232768552	Pathogenic	Leber congenital amaurosis 16	No Assertion Criteria Provided	CA259781	rs_143607153	1 SubmittersRCV000023267
NM_001023570.4(IQCB1):c.1036G>T (p.Glu346Ter)	SNV Germline	Chr3:121790166	Pathogenic	Senior-Loken syndrome 5 Leber congenital amaurosis Nephronophthisis	Criteria Provided Multiple Submitters No Conflicts	CA129461	rs_387907009	6 SubmittersRCV000023758 RCV000504719 RCV000462160
NM_018418.5(SPATA7):c.253C>T (p.Arg85Ter)	SNV Germline	Chr14:88416725	Pathogenic/Likely pathogenic	Leber congenital amaurosis 3 SPATA7-related disorder Retinal dystrophy Retinitis pigmentosa 94, variable age at onset Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA259907	rs_140287375	10 SubmittersRCV000023791 RCV000778417 RCV001075501 RCV002260600 RCV002251427
NM_022787.4(NMNAT1):c.838T>C (p.Ter280Gln)	SNV Germline	Chr1:9982699	Pathogenic	Leber congenital amaurosis 9	No Assertion Criteria Provided	CA260588	rs_387907290	1 SubmittersRCV000030763
NM_022787.4(NMNAT1):c.619C>T (p.Arg207Trp)	SNV Germline	Chr1:9982480	Pathogenic	Leber congenital amaurosis 9 Condition: not provided Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA260590	rs_142968179	9 SubmittersRCV000030764 RCV001090803 RCV004794346
NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys)	SNV Germline	Chr1:9982630	Pathogenic/Likely pathogenic	Leber congenital amaurosis 9 Condition: not provided Leber congenital amaurosis 7 conditions Retinal dystrophy NMNAT1-related disorder Inborn genetic diseases Leber congenital amaurosis 9 Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis Cone-rod dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA342906	rs_150726175	19 SubmittersRCV000030765 RCV000255806 RCV000504859 RCV001003567 RCV001075816 RCV004757953 RCV004639123 RCV005394179 RCV005624712
NM_022787.4(NMNAT1):c.817A>G (p.Asn273Asp)	SNV Germline	Chr1:9982678	Pathogenic	Leber congenital amaurosis 9	No Assertion Criteria Provided	CA260592	rs_387907291	1 SubmittersRCV000030766
NM_022787.4(NMNAT1):c.710G>T (p.Arg237Leu)	SNV Germline	Chr1:9982571	Pathogenic	Leber congenital amaurosis 9	No Assertion Criteria Provided	CA260596	rs_368062092	1 SubmittersRCV000030769
NM_022787.4(NMNAT1):c.457C>G (p.Leu153Val)	SNV Germline	Chr1:9982318	Pathogenic	Leber congenital amaurosis 9	No Assertion Criteria Provided	CA260598	rs_387907293	1 SubmittersRCV000030770
NM_022787.4(NMNAT1):c.25G>A (p.Val9Met)	SNV Germline	Chr1:9972098	Pathogenic	Leber congenital amaurosis 9 Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA260600	rs_387907294	3 SubmittersRCV000030771 RCV004794347
NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr)	SNV Germline	Chr1:197434706	Pathogenic	Leber congenital amaurosis 8 Retinitis pigmentosa 12 Condition: not provided Retinal dystrophy Leber congenital amaurosis 8 Pigmented paravenous retinochoroidal atrophy Retinitis pigmentosa 12 Pigmented paravenous retinochoroidal atrophy Leber congenital amaurosis 8 Retinitis pigmentosa 12 Leber congenital amaurosis Cone dystrophy Hereditary macular dystrophy Retinitis pigmentosa CRB1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA228022	rs_62645748	31 SubmittersRCV000032814 RCV000032815 RCV000086331 RCV000505155 RCV000762874 RCV001097540 RCV000554663 RCV001275657 RCV003324500 RCV005357245 RCV000787579 RCV003313928
NM_017777.4(MKS1):c.958G>A (p.Val320Ile)	SNV Germline	Chr17:58210980	Conflicting classifications of pathogenicity	Meckel syndrome, type 1 Condition: not provided Joubert syndrome Meckel-Gruber syndrome Bardet-Biedl syndrome 13 Leber congenital amaurosis 6 Meckel syndrome, type 1 Bardet-Biedl syndrome 13 Joubert syndrome 28 Meckel syndrome, type 1	Criteria Provided Conflicting Classifications	CA344764	rs_386834053	7 SubmittersRCV000050040 RCV000735097 RCV001853066 RCV003474638 RCV000735871 RCV005025107
NM_025114.4(CEP290):c.1984C>T (p.Gln662Ter)	SNV Germline	Chr12:88114488	Pathogenic	Meckel syndrome, type 4 Joubert syndrome 5 Joubert syndrome Nephronophthisis Meckel-Gruber syndrome Leber congenital amaurosis Retinitis pigmentosa Leber congenital amaurosis 10 Condition: not provided Senior-Loken syndrome 6 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Joubert syndrome 5 Bardet-Biedl syndrome 14 CEP290-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA144389	rs_386834152	11 SubmittersRCV000050146 RCV000201755 RCV000685655 RCV000787559 RCV000787812 RCV001376367 RCV002285263 RCV002504949 RCV003460645 RCV004732641
NM_025114.4(CEP290):c.289G>T (p.Glu97Ter)	SNV Germline	Chr12:88139153	Pathogenic/Likely pathogenic	Meckel syndrome, type 4 Condition: not provided Leber congenital amaurosis Joubert syndrome Nephronophthisis Meckel-Gruber syndrome Joubert syndrome 5 Retinal dystrophy Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA144391	rs_386834153	10 SubmittersRCV000050147 RCV001091341 RCV001274137 RCV001053674 RCV004760362 RCV004814991 RCV003466923
NM_001001557.4(GDF6):c.876G>Y (p.Glu292Asp)	SNV Germline	Chr8:96145055	Pathogenic	Leber congenital amaurosis 17	No Assertion Criteria Provided		rs_1401531865	1 SubmittersRCV000054425
NM_001001557.4(GDF6):c.169G>C (p.Asp57His)	SNV Germline	Chr8:96160524	Conflicting classifications of pathogenicity	Leber congenital amaurosis 17 Isolated microphthalmia 4 Microphthalmia, isolated, with coloboma 6 Klippel-Feil syndrome 1, autosomal dominant Leber congenital amaurosis 17 Klippel-Feil syndrome 1, autosomal dominant Condition: not provided GDF6-related disorder	Criteria Provided Conflicting Classifications	CA210821	rs_397514725	5 SubmittersRCV000054426 RCV001853075 RCV001337031 RCV001753472 RCV004757958
NM_014336.5(AIPL1):c.589G>C (p.Ala197Pro)	SNV Germline	Chr17:6426934	Pathogenic	Leber congenital amaurosis 4 Condition: not provided Leber congenital amaurosis	Criteria Provided Single Submitter	CA227886	rs_62637010	4 SubmittersRCV000055939 RCV000086228 RCV005430958
NM_014336.5(AIPL1):c.784G>A (p.Gly262Ser)	SNV Germline	Chr17:6426615	Pathogenic/Likely pathogenic	Leber congenital amaurosis 4 Condition: not provided AIPL1-related disorder AIPL1-related disorder Leber congenital amaurosis 4 CONE-ROD DYSTROPHY, AIPL1-RELATED Juvenile retinitis pigmentosa, AIPL1-related	Criteria Provided Multiple Submitters No Conflicts	CA227897	rs_142326926	6 SubmittersRCV000055941 RCV000086234 RCV004732645 RCV005625259
NM_014336.5(AIPL1):c.905G>T (p.Arg302Leu)	SNV Germline	Chr17:6425710	Conflicting classifications of pathogenicity	Leber congenital amaurosis 4 Condition: not provided not specified Leber congenital amaurosis 1 AIPL1-related disorder	Criteria Provided Conflicting Classifications	CA203310	rs_62637015	12 SubmittersRCV000055942 RCV000086236 RCV000179479 RCV000989684 RCV004537253
NM_201253.3(CRB1):c.1913C>T (p.Ser638Leu)	SNV Germline	Chr1:197421741	Pathogenic/Likely pathogenic	Retinal dystrophy Retinitis pigmentosa 12 Leber congenital amaurosis 8 Leber congenital amaurosis 8	Criteria Provided Multiple Submitters No Conflicts	CA1311998	rs_267598278	4 SubmittersRCV000505040 RCV001854256 RCV004566911
NM_014336.5(AIPL1):c.244C>T (p.His82Tyr)	SNV Germline	Chr17:6433951	Conflicting classifications of pathogenicity	Condition: not provided Retinitis pigmentosa Leber congenital amaurosis 4 Retinal dystrophy AIPL1-related disorder	Criteria Provided Conflicting Classifications	CA223111	rs_144822294	5 SubmittersRCV000081612 RCV001125500 RCV001125501 RCV004815007 RCV004732656
NM_014336.5(AIPL1):c.267C>T (p.Cys89=)	SNV Germline	Chr17:6433928	Conflicting classifications of pathogenicity	Condition: not provided Retinitis Pigmentosa, Dominant not specified Retinitis Pigmentosa, Recessive Leber congenital amaurosis 4 Retinal dystrophy	Criteria Provided Conflicting Classifications	CA223113	rs_62653020	9 SubmittersRCV000081613 RCV000345097 RCV000259077 RCV000306547 RCV001080955 RCV004815008
NM_014336.5(AIPL1):c.516T>C (p.His172=)	SNV Germline	Chr17:6427007	Conflicting classifications of pathogenicity	Condition: not provided Retinitis Pigmentosa, Recessive Retinitis pigmentosa not specified Leber congenital amaurosis 4 AIPL1-related disorder Retinal dystrophy	Criteria Provided Conflicting Classifications	CA223115	rs_62637017	10 SubmittersRCV000081614 RCV000311702 RCV000371077 RCV001001388 RCV001086330 RCV004542792 RCV004815009
NM_018418.5(SPATA7):c.729C>T (p.Arg243=)	SNV Germline	Chr14:88426588	Conflicting classifications of pathogenicity	not specified Retinitis pigmentosa Leber congenital amaurosis 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA223536	rs_151338404	6 SubmittersRCV000081956 RCV000327877 RCV000952079 RCV001699118
NM_020366.4(RPGRIP1):c.2555G>A (p.Arg852Gln)	SNV Germline	Chr14:21326018	Conflicting classifications of pathogenicity	Condition: not provided not specified Cone-rod dystrophy 13 Leber congenital amaurosis 6 Leber congenital amaurosis 6 Cone-rod dystrophy 13 Retinal dystrophy Optic atrophy	Criteria Provided Conflicting Classifications	CA223562	rs_181758389	7 SubmittersRCV000082000 RCV001002311 RCV001111273 RCV001111274 RCV001513784 RCV004815013 RCV004815014
NM_020366.4(RPGRIP1):c.2775G>A (p.Trp925Ter)	SNV Germline	Chr14:21327687	Pathogenic	Condition: not provided Leber congenital amaurosis Leber congenital amaurosis 6 Cone-rod dystrophy 13 Cone-rod dystrophy 13 Leber congenital amaurosis 6	Criteria Provided Multiple Submitters No Conflicts	CA223564	rs_398124354	4 SubmittersRCV000082001 RCV000710048 RCV001800386 RCV001800387 RCV001857395
NM_020366.4(RPGRIP1):c.3414C>T (p.Asn1138=)	SNV Germline	Chr14:21343110	Conflicting classifications of pathogenicity	Condition: not provided Cone-rod dystrophy 13 Leber congenital amaurosis 6	Criteria Provided Conflicting Classifications	CA223566	rs_398124355	2 SubmittersRCV000082002 RCV002055216
NM_020366.4(RPGRIP1):c.783G>A (p.Gln261=)	SNV Germline	Chr14:21303526	Conflicting classifications of pathogenicity	Condition: not provided Cone-rod dystrophy 13 Leber congenital amaurosis 6	Criteria Provided Conflicting Classifications	CA223570	rs_398124356	2 SubmittersRCV000082004 RCV002055217
NM_025114.4(CEP290):c.4237G>C (p.Asp1413His)	SNV Germline	Chr12:88086456	Conflicting classifications of pathogenicity	not specified Leber congenital amaurosis 10 Joubert syndrome 5 Senior-Loken syndrome 6 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Condition: not provided Meckel-Gruber syndrome Nephronophthisis Joubert syndrome Leber congenital amaurosis CEP290-related disorder	Criteria Provided Conflicting Classifications	CA149314	rs_183655276	11 SubmittersRCV000082249 RCV000307654 RCV000351974 RCV000366483 RCV000402012 RCV000408211 RCV000442189 RCV001082252 RCV001273070 RCV004528298
NM_000180.4(GUCY2D):c.1052A>G (p.Tyr351Cys)	SNV Germline	Chr17:8006388	Likely pathogenic	Condition: not provided Leber congenital amaurosis Leber congenital amaurosis 1 Cone-rod dystrophy 6 Leber congenital amaurosis 1 GUCY2D-related recessive retinopathy	Reviewed By Expert Panel	CA226036	rs_61749676	5 SubmittersRCV000084827 RCV003398694 RCV001250829 RCV001377421 RCV005053888
NM_000180.4(GUCY2D):c.1343C>A (p.Ser448Ter)	SNV Germline	Chr17:8006679	Pathogenic	Condition: not provided Cone-rod dystrophy 6 Cone-rod dystrophy 6 Leber congenital amaurosis 1 Leber congenital amaurosis 1 Cone-rod dystrophy 6 Leber congenital amaurosis 1 Choroidal dystrophy, central areolar, 1 Night blindness, congenital stationary, type1i GUCY2D-related recessive retinopathy Retinal dystrophy	Reviewed By Expert Panel	CA226043	rs_61749679	9 SubmittersRCV000084831 RCV000989737 RCV001037164 RCV001250830 RCV005025142 RCV005053890 RCV004815022
NM_000180.4(GUCY2D):c.1537C>T (p.Leu513Phe)	SNV Germline	Chr17:8007499	Conflicting classifications of pathogenicity	Condition: not provided not specified Cone-rod dystrophy 6 Leber congenital amaurosis 1	Criteria Provided Conflicting Classifications	CA226047	rs_61749682	5 SubmittersRCV000084834 RCV000356487 RCV001084922
NM_000180.4(GUCY2D):c.1566+2T>C	SNV Germline	Chr17:8007530	Pathogenic	Condition: not provided Leber congenital amaurosis 1	No Assertion Criteria Provided	CA226049	rs_61749683	2 SubmittersRCV000084836 RCV001250861
NM_000180.4(GUCY2D):c.1956+2T>A	SNV Germline	Chr17:8012352	Likely pathogenic	Condition: not provided Leber congenital amaurosis 1	Criteria Provided Single Submitter	CA226057	rs_61749758	3 SubmittersRCV000084843 RCV000761437
NM_000180.4(GUCY2D):c.1957-1G>T	SNV Germline	Chr17:8012449	Pathogenic	Condition: not provided Leber congenital amaurosis 1	No Assertion Criteria Provided	CA226059	rs_61749759	2 SubmittersRCV000084845 RCV001250862
NM_000180.4(GUCY2D):c.1978C>T (p.Arg660Ter)	SNV Germline	Chr17:8012471	Pathogenic	Condition: not provided Leber congenital amaurosis 1 Cone-rod dystrophy 6 Leber congenital amaurosis 1 Retinal dystrophy Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA226062	rs_61750161	5 SubmittersRCV000084847 RCV001250870 RCV001047937 RCV004815024 RCV005055574
NM_000180.4(GUCY2D):c.2302C>T (p.Arg768Trp)	SNV Germline	Chr17:8013918	Pathogenic	Condition: not provided Leber congenital amaurosis 1 Cone-rod dystrophy 6 Leber congenital amaurosis 1 Leber congenital amaurosis Night blindness, congenital stationary, type1i Retinal dystrophy GUCY2D-related disorder GUCY2D-related recessive retinopathy Cone-rod dystrophy 6 Leber congenital amaurosis 1 Choroidal dystrophy, central areolar, 1 Night blindness, congenital stationary, type1i	Reviewed By Expert Panel	CA226075	rs_61750168	17 SubmittersRCV000084856 RCV000850093 RCV000543628 RCV000787613 RCV000850094 RCV001075745 RCV004748575 RCV005053896 RCV002477250
NM_000180.4(GUCY2D):c.2800G>C (p.Ala934Pro)	SNV Germline	Chr17:8015358	Likely pathogenic	Condition: not provided Leber congenital amaurosis 1	No Assertion Criteria Provided	CA226097	rs_61750179	2 SubmittersRCV000084870 RCV001250847
NM_000180.4(GUCY2D):c.2861T>C (p.Leu954Pro)	SNV Germline	Chr17:8015419	Conflicting classifications of pathogenicity	Condition: not provided Retinal dystrophy Leber congenital amaurosis 1 Cone-rod dystrophy 6 Leber congenital amaurosis	Criteria Provided Conflicting Classifications	CA226103	rs_61750182	4 SubmittersRCV000084873 RCV001075835 RCV002514512 RCV005237529
NM_000180.4(GUCY2D):c.2927G>T (p.Arg976Leu)	SNV Germline	Chr17:8015485	Likely pathogenic	Condition: not provided Cone-rod dystrophy 6 Leber congenital amaurosis 1 Choroidal dystrophy, central areolar, 1 GUCY2D-related recessive retinopathy	Reviewed By Expert Panel	CA226107	rs_61750184	4 SubmittersRCV000084876 RCV000714548 RCV000714549 RCV000714550 RCV005053897
NM_000180.4(GUCY2D):c.2983C>T (p.Arg995Trp)	SNV Germline	Chr17:8015781	Likely pathogenic	Condition: not provided Leber congenital amaurosis 1 GUCY2D-related recessive retinopathy	Reviewed By Expert Panel	CA226112	rs_61750187	5 SubmittersRCV000084879 RCV001250866 RCV005053899
NM_000180.4(GUCY2D):c.2T>A (p.Met1Lys)	SNV Germline	Chr17:8003049	Pathogenic	Condition: not provided Leber congenital amaurosis 1	No Assertion Criteria Provided	CA226114	rs_281865408	2 SubmittersRCV000084880 RCV001250811
NM_000180.4(GUCY2D):c.3025A>T (p.Met1009Leu)	SNV Germline	Chr17:8015823	Likely pathogenic	Condition: not provided Leber congenital amaurosis 1	No Assertion Criteria Provided	CA226116	rs_61750188	2 SubmittersRCV000084881 RCV001250853
NM_000180.4(GUCY2D):c.3043+4A>T	SNV Germline	Chr17:8015845	Likely pathogenic	Condition: not provided Leber congenital amaurosis 1	No Assertion Criteria Provided	CA226118	rs_61750189	2 SubmittersRCV000084882 RCV001250855
NM_000180.4(GUCY2D):c.307G>A (p.Glu103Lys)	SNV Germline	Chr17:8003354	Likely pathogenic	Condition: not provided Cone dystrophy Cone-rod dystrophy 6 Leber congenital amaurosis 1 Leber congenital amaurosis 1 Leber congenital amaurosis Choroidal dystrophy, central areolar, 1 Cone-rod dystrophy 6 Leber congenital amaurosis 1 Night blindness, congenital stationary, type1i GUCY2D-related recessive retinopathy	Reviewed By Expert Panel	CA226122	rs_61749668	11 SubmittersRCV000084885 RCV000505073 RCV001053255 RCV001250822 RCV004689453 RCV005016379 RCV005053900
NM_000180.4(GUCY2D):c.3118C>T (p.Arg1040Ter)	SNV Germline	Chr17:8016001	Pathogenic	Condition: not provided Leber congenital amaurosis 1 Cone-rod dystrophy 6 Leber congenital amaurosis 1	Criteria Provided Single Submitter	CA226130	rs_61750194	3 SubmittersRCV000084889 RCV002514513 RCV001250858
NM_000180.4(GUCY2D):c.387C>A (p.Asn129Lys)	SNV Germline	Chr17:8003434	Likely pathogenic	Condition: not provided Leber congenital amaurosis 1	No Assertion Criteria Provided	CA226141	rs_63340060	2 SubmittersRCV000084896 RCV001250823
NM_000180.4(GUCY2D):c.3G>A (p.Met1Ile)	SNV Germline	Chr17:8003050	Pathogenic	Condition: not provided Leber congenital amaurosis 1 GUCY2D-related recessive retinopathy	Reviewed By Expert Panel	CA226144	rs_281865409	3 SubmittersRCV000084898 RCV001250813 RCV005053902
NM_000180.4(GUCY2D):c.3G>C (p.Met1Ile)	SNV Germline	Chr17:8003050	Pathogenic	Condition: not provided Leber congenital amaurosis 1 Cone-rod dystrophy 6 Leber congenital amaurosis 1	Criteria Provided Single Submitter	CA226146	rs_281865409	3 SubmittersRCV000084899 RCV001250812 RCV001388964
NM_000180.4(GUCY2D):c.935C>T (p.Thr312Met)	SNV Germline	Chr17:8004065	Likely pathogenic	Condition: not provided Leber congenital amaurosis 1 Cone-rod dystrophy 6 Leber congenital amaurosis 1 GUCY2D-related recessive retinopathy	Reviewed By Expert Panel	CA226155	rs_61749673	6 SubmittersRCV000084906 RCV001250818 RCV003764783 RCV005053904
NM_000180.4(GUCY2D):c.937C>T (p.Arg313Cys)	SNV Germline	Chr17:8004067	Likely pathogenic	Condition: not provided Leber congenital amaurosis 1 Cone-rod dystrophy 6 Leber congenital amaurosis 1 GUCY2D-related recessive retinopathy	Reviewed By Expert Panel	CA226156	rs_61749674	5 SubmittersRCV000084907 RCV001250827 RCV001306870 RCV005053905
NM_000322.5(PRPH2):c.637T>C (p.Cys213Arg)	SNV Germline	Chr6:42704556	Pathogenic	Condition: not provided Patterned macular dystrophy 1 Leber congenital amaurosis 18 PRPH2-related disorder	Criteria Provided Single Submitter	CA174960	rs_61755802	4 SubmittersRCV000085002 RCV000149468 RCV000149469 RCV001854492
NM_000329.3(RPE65):c.1078G>C (p.Ala360Pro)	SNV Germline	Chr1:68438237	Likely pathogenic	Condition: not provided Retinitis pigmentosa 20 Leber congenital amaurosis 2 RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA226480	rs_62646883	3 SubmittersRCV000085147 RCV001854496 RCV004801916
NM_000329.3(RPE65):c.11+5G>A	SNV Germline	Chr1:68449890	Pathogenic	Leber congenital amaurosis 2 Condition: not provided Retinal dystrophy Leber congenital amaurosis Retinitis pigmentosa 20 Leber congenital amaurosis 2 Retinitis pigmentosa 20 Retinitis pigmentosa 20 Leber congenital amaurosis 2 Retinitis pigmentosa 87 with choroidal involvement RPE65-related recessive retinopathy RPE65-related disorder Inborn genetic diseases	Reviewed By Expert Panel	CA226483	rs_61751276	24 SubmittersRCV000022752 RCV000085149 RCV000505050 RCV001275342 RCV000524808 RCV000678614 RCV002498448 RCV003460766 RCV004732661 RCV004955275
NM_000329.3(RPE65):c.118G>A (p.Gly40Ser)	SNV Germline	Chr1:68446837	Pathogenic	Condition: not provided Retinitis pigmentosa Retinitis pigmentosa 20 Leber congenital amaurosis 2 Leber congenital amaurosis Leber congenital amaurosis 2 Retinal dystrophy Retinitis pigmentosa 20 Leber congenital amaurosis 2 Retinitis pigmentosa 87 with choroidal involvement RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA226491	rs_61751281	11 SubmittersRCV000085155 RCV000132582 RCV001047503 RCV001275340 RCV001250675 RCV001074416 RCV002498450 RCV004527312
NM_000329.3(RPE65):c.1223T>C (p.Leu408Pro)	SNV Germline	Chr1:68431491	Pathogenic/Likely pathogenic	Condition: not provided Retinitis pigmentosa 20 Leber congenital amaurosis 2 Leber congenital amaurosis 2 Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA226497	rs_62636298	5 SubmittersRCV000085159 RCV001041992 RCV001089894 RCV002509207
NM_000329.3(RPE65):c.1249G>C (p.Glu417Gln)	SNV Germline	Chr1:68431371	Likely pathogenic	Condition: not provided Retinal dystrophy Leber congenital amaurosis Retinitis pigmentosa 20 Leber congenital amaurosis 2 Leber congenital amaurosis 2 RPE65-related recessive retinopathy Inborn genetic diseases Retinitis pigmentosa 20 Leber congenital amaurosis 2 Retinitis pigmentosa 87 with choroidal involvement	Reviewed By Expert Panel	CA226499	rs_62636299	8 SubmittersRCV000085160 RCV001074061 RCV004767068 RCV001323215 RCV003466997 RCV003764786 RCV004955276 RCV005025143
NM_000329.3(RPE65):c.131G>A (p.Arg44Gln)	SNV Germline	Chr1:68446824	Pathogenic	Condition: not provided Leber congenital amaurosis 2 Retinitis pigmentosa 20 Leber congenital amaurosis 2 Leber congenital amaurosis Retinitis pigmentosa 20 Autosomal recessive retinitis pigmentosa RPE65-related disorder RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA226506	rs_61751282	9 SubmittersRCV000085166 RCV000701390 RCV001250676 RCV001275338 RCV001808321 RCV001257816 RCV004528783 RCV005620901
NM_000329.3(RPE65):c.1384G>T (p.Glu462Ter)	SNV Germline	Chr1:68431131	Pathogenic/Likely pathogenic	Condition: not provided Leber congenital amaurosis 2 Retinitis pigmentosa 20 Leber congenital amaurosis 2 Retinitis pigmentosa 20	Criteria Provided Multiple Submitters No Conflicts	CA226513	rs_62637006	6 SubmittersRCV000085172 RCV001250694 RCV002513922 RCV001376503
NM_000329.3(RPE65):c.1418T>A (p.Val473Asp)	SNV Germline	Chr1:68431097	Likely pathogenic	Condition: not provided Leber congenital amaurosis 2 RPE65-related recessive retinopathy Retinitis pigmentosa 20	Reviewed By Expert Panel	CA226515	rs_62637007	6 SubmittersRCV000085173 RCV001250706 RCV003764787 RCV004786365
NM_000329.3(RPE65):c.1451G>A (p.Gly484Asp)	SNV Germline	Chr1:68429927	Likely pathogenic	Condition: not provided Leber congenital amaurosis 2 Leber congenital amaurosis Retinitis pigmentosa 20 Leber congenital amaurosis 2 RPE65-related recessive retinopathy Retinitis pigmentosa 20 Retinitis pigmentosa 87 with choroidal involvement Leber congenital amaurosis 2	Reviewed By Expert Panel	CA226517	rs_62653015	11 SubmittersRCV000085175 RCV001250703 RCV001826773 RCV001854497 RCV003764788 RCV005025144
NM_000329.3(RPE65):c.202C>T (p.His68Tyr)	SNV Germline	Chr1:68446753	Pathogenic	Condition: not provided Leber congenital amaurosis 2 Leber congenital amaurosis RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA226523	rs_61752866	4 SubmittersRCV000085179 RCV003466999 RCV005237530 RCV005425724
NM_000329.3(RPE65):c.235T>C (p.Tyr79His)	SNV Germline	Chr1:68446720	Likely pathogenic	Condition: not provided Retinitis pigmentosa 20 Leber congenital amaurosis 2 RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA226528	rs_61752869	3 SubmittersRCV000085182 RCV003764790 RCV004801917
NM_000329.3(RPE65):c.272G>A (p.Arg91Gln)	SNV Germline	Chr1:68444857	Pathogenic	Condition: not provided Leber congenital amaurosis 2 Retinitis pigmentosa 20 Leber congenital amaurosis 2 Leber congenital amaurosis Retinitis pigmentosa RPE65-related recessive retinopathy Inborn genetic diseases Retinal dystrophy Retinitis pigmentosa 20 Retinitis pigmentosa 87 with choroidal involvement Leber congenital amaurosis 2	Reviewed By Expert Panel	CA226533	rs_61752873	12 SubmittersRCV000085186 RCV002247485 RCV001061074 RCV001275336 RCV001731373 RCV003764791 RCV003242980 RCV004815048 RCV005031578
NM_000329.3(RPE65):c.272G>C (p.Arg91Pro)	SNV Germline	Chr1:68444857	Likely pathogenic	Condition: not provided Leber congenital amaurosis 2 RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA226534	rs_61752873	3 SubmittersRCV000085187 RCV001250683 RCV005425725
NM_000329.3(RPE65):c.2T>C (p.Met1Thr)	SNV Germline	Chr1:68449904	Pathogenic/Likely pathogenic	Condition: not provided Retinitis pigmentosa 20 Leber congenital amaurosis 2 Retinitis pigmentosa 20 Retinal dystrophy Leber congenital amaurosis Leber congenital amaurosis 2 Retinitis pigmentosa 20 Retinitis pigmentosa 87 with choroidal involvement	Criteria Provided Multiple Submitters No Conflicts	CA226537	rs_281865285	6 SubmittersRCV000085190 RCV001376504 RCV001377675 RCV004815049 RCV005606645 RCV005025145
NM_000329.3(RPE65):c.304G>A (p.Glu102Lys)	SNV Germline	Chr1:68444825	Likely pathogenic	Condition: not provided Retinitis pigmentosa 20 Leber congenital amaurosis 2 Retinitis pigmentosa 87 with choroidal involvement	Criteria Provided Single Submitter	CA226539	rs_62642584	2 SubmittersRCV000085191 RCV005031580
NM_000329.3(RPE65):c.304G>T (p.Glu102Ter)	SNV Germline	Chr1:68444825	Pathogenic	Condition: not provided RPE65-related disorder Retinitis pigmentosa 20 Leber congenital amaurosis 2 Leber congenital amaurosis 2 Leber congenital amaurosis Retinal dystrophy RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA226540	rs_62642584	11 SubmittersRCV000085192 RCV001249229 RCV000763389 RCV003467000 RCV001275333 RCV004815050 RCV003764793
NM_000329.3(RPE65):c.311G>T (p.Gly104Val)	SNV Germline	Chr1:68444818	Likely pathogenic	Condition: not provided Leber congenital amaurosis 2 RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA226542	rs_61752875	3 SubmittersRCV000085193 RCV001588914 RCV005425726
NM_000329.3(RPE65):c.370C>T (p.Arg124Ter)	SNV Germline	Chr1:68444656	Pathogenic	Condition: not provided Retinitis pigmentosa 20 Leber congenital amaurosis 2 Leber congenital amaurosis 2 Inborn genetic diseases Leber congenital amaurosis Retinal dystrophy Retinitis pigmentosa 20 Leber congenital amaurosis 2 Retinitis pigmentosa 87 with choroidal involvement RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA226545	rs_61752877	13 SubmittersRCV000085195 RCV000538669 RCV000986332 RCV003242981 RCV001275332 RCV003888467 RCV002490740 RCV003764794
NM_000329.3(RPE65):c.430T>G (p.Tyr144Asp)	SNV Germline	Chr1:68444596	Likely pathogenic	Condition: not provided Retinitis pigmentosa 20 Leber congenital amaurosis 2 Leber congenital amaurosis 2 RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA226550	rs_61752880	4 SubmittersRCV000085198 RCV001854498 RCV004566978 RCV004595854
NM_000329.3(RPE65):c.444G>T (p.Glu148Asp)	SNV Germline	Chr1:68444582	Likely pathogenic	Condition: not provided Leber congenital amaurosis 2 RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA226553	rs_61752882	3 SubmittersRCV000085200 RCV001250685 RCV005620902
NM_000329.3(RPE65):c.499G>T (p.Asp167Tyr)	SNV Germline	Chr1:68440997	Pathogenic	Condition: not provided Retinitis pigmentosa 20 Leber congenital amaurosis 2 Leber congenital amaurosis RPE65-related disorder Retinitis pigmentosa 20 Leber congenital amaurosis 2 RPE65-related recessive retinopathy Retinitis pigmentosa 20 Leber congenital amaurosis 2 Retinitis pigmentosa 87 with choroidal involvement	Reviewed By Expert Panel	CA226557	rs_61752883	11 SubmittersRCV000085203 RCV000678617 RCV001250708 RCV001831894 RCV000778252 RCV001245153 RCV004527316 RCV005031581
NM_000329.3(RPE65):c.544C>A (p.His182Asn)	SNV Germline	Chr1:68440952	Likely pathogenic	Condition: not provided Leber congenital amaurosis 2	Criteria Provided Single Submitter	CA226558	rs_61752884	3 SubmittersRCV000085204 RCV001250687
NM_000329.3(RPE65):c.544C>T (p.His182Tyr)	SNV Germline	Chr1:68440952	Pathogenic	Condition: not provided Autosomal recessive retinitis pigmentosa Retinitis pigmentosa 20 Leber congenital amaurosis 2 Leber congenital amaurosis 2 RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA226559	rs_61752884	5 SubmittersRCV000085205 RCV001257821 RCV001388257 RCV004566979 RCV004527317
NM_000329.3(RPE65):c.644-2A>T	SNV Unknown	Chr1:68439644	Pathogenic	Condition: not provided Leber congenital amaurosis 2	Criteria Provided Single Submitter	CA226571	rs_61752891	2 SubmittersRCV000085214 RCV003467001
NM_000329.3(RPE65):c.65T>C (p.Leu22Pro)	SNV Germline	Chr1:68448653	Likely pathogenic	Condition: not provided Retinitis pigmentosa 20 Leber congenital amaurosis 2 Leber congenital amaurosis RPE65-related recessive retinopathy Leber congenital amaurosis 2	Reviewed By Expert Panel	CA226576	rs_61751277	10 SubmittersRCV000085218 RCV001218527 RCV002222384 RCV003764796 RCV001250672
NM_000329.3(RPE65):c.715T>G (p.Tyr239Asp)	SNV Germline	Chr1:68439571	Pathogenic	Condition: not provided Retinitis pigmentosa 20 Leber congenital amaurosis 2 Leber congenital amaurosis 2 Leber congenital amaurosis 2 Retinitis pigmentosa 87 with choroidal involvement Leber congenital amaurosis RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA226579	rs_61752896	9 SubmittersRCV000085220 RCV001207227 RCV000678618 RCV005357534 RCV001831895 RCV003764797
NM_000329.3(RPE65):c.858+1G>A	SNV Germline	Chr1:68439190	Pathogenic	Condition: not provided Leber congenital amaurosis 2 Retinitis pigmentosa 20 Leber congenital amaurosis 2	Criteria Provided Single Submitter	CA226582	rs_61752899	3 SubmittersRCV000085223 RCV001250702 RCV001388254
NM_000329.3(RPE65):c.858+1G>T	SNV Germline	Chr1:68439190	Pathogenic	Condition: not provided Leber congenital amaurosis 2 Retinitis pigmentosa 20 Leber congenital amaurosis 2	Criteria Provided Multiple Submitters No Conflicts	CA226583	rs_61752899	3 SubmittersRCV000085224 RCV001270786 RCV002513924
NM_000329.3(RPE65):c.859G>T (p.Val287Phe)	SNV Germline	Chr1:68439081	Likely pathogenic	Condition: not provided Leber congenital amaurosis 2 RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA226585	rs_281865289	4 SubmittersRCV000085226 RCV002226457 RCV004527320
NM_000329.3(RPE65):c.95-2A>T	SNV Germline	Chr1:68446862	Pathogenic	Condition: not provided Retinitis pigmentosa 20 Leber congenital amaurosis 2 Leber congenital amaurosis Retinitis pigmentosa 20 Leber congenital amaurosis 2 Retinitis pigmentosa 87 with choroidal involvement RPE65-related recessive retinopathy Retinal dystrophy Leber congenital amaurosis 2 Retinitis pigmentosa 20	Reviewed By Expert Panel	CA226591	rs_61751279	14 SubmittersRCV000085232 RCV000668398 RCV001003189 RCV002498451 RCV003460771 RCV001074560 RCV001250674 RCV005252750
NM_000329.3(RPE65):c.952T>A (p.Tyr318Asn)	SNV Germline	Chr1:68438988	Pathogenic/Likely pathogenic	Condition: not provided Leber congenital amaurosis 2 Retinitis pigmentosa 20 Leber congenital amaurosis 2 Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA226592	rs_61752905	6 SubmittersRCV000085233 RCV001089895 RCV001854499 RCV003323394
NM_000329.3(RPE65):c.989G>A (p.Cys330Tyr)	SNV Germline	Chr1:68438951	Likely pathogenic	Condition: not provided Leber congenital amaurosis 2 Leber congenital amaurosis 2 Retinitis pigmentosa 20 Leber congenital amaurosis RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA226599	rs_61752908	5 SubmittersRCV000085237 RCV001250691 RCV000808234 RCV005606646 RCV005620903
NM_000350.3(ABCA4):c.2041C>T (p.Arg681Ter)	SNV Germline	Chr1:94060656	Pathogenic/Likely pathogenic	Condition: not provided Benign concentric annular macular dystrophy Leber congenital amaurosis Severe early-childhood-onset retinal dystrophy Retinal dystrophy Age related macular degeneration 2 Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2 Stargardt disease 3 ABCA4-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA226973	rs_61749423	17 SubmittersRCV000085458 RCV000210310 RCV000504983 RCV000408512 RCV001073628 RCV001195987 RCV005025147 RCV004558307 RCV004732663
NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp)	SNV Germline	Chr1:94021340	Pathogenic/Likely pathogenic; other	Condition: not provided Retinal dystrophy Leber congenital amaurosis Severe early-childhood-onset retinal dystrophy Stargardt disease Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2 Cone-rod dystrophy 3 ABCA4-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA227253	rs_61751404	21 SubmittersRCV000085683 RCV000210311 RCV000505114 RCV000408519 RCV000787504 RCV002505017 RCV004760372 RCV004732674
NM_000554.6(CRX):c.166G>A (p.Ala56Thr)	SNV Germline	Chr19:47836308	Likely pathogenic	Condition: not provided Leber congenital amaurosis 7 Cone-rod dystrophy 2	Criteria Provided Single Submitter	CA227612	rs_61748437	2 SubmittersRCV000085991 RCV001369855
NM_000554.6(CRX):c.238G>A (p.Glu80Lys)	SNV Germline	Chr19:47836380	Pathogenic	Condition: not provided maculopathy Leber congenital amaurosis 7 Cone-rod dystrophy 2	Criteria Provided Single Submitter	CA227617	rs_62654391	3 SubmittersRCV000085994 RCV001003002 RCV001854500
NM_000554.6(CRX):c.253-15G>A	SNV Germline	Chr19:47839305	Conflicting classifications of pathogenicity	Condition: not provided Leber congenital amaurosis 7 Cone-rod dystrophy 2 Retinitis pigmentosa Leber congenital amaurosis 7 Cone-rod dystrophy 2	Criteria Provided Conflicting Classifications	CA227619	rs_145805694	7 SubmittersRCV000085996 RCV000335244 RCV000374438 RCV000282603 RCV001512740
NM_000554.6(CRX):c.425A>G (p.Tyr142Cys)	SNV Germline	Chr19:47839492	Conflicting classifications of pathogenicity	Condition: not provided Leber congenital amaurosis 7 Cone-rod dystrophy 2 Retinitis pigmentosa Leber congenital amaurosis 1 Leber congenital amaurosis 7 Cone-rod dystrophy 2 CRX-related disorder Autosomal dominant retinitis pigmentosa Retinal dystrophy	Criteria Provided Conflicting Classifications	CA227624	rs_61748442	13 SubmittersRCV000086001 RCV001131569 RCV001131568 RCV000787829 RCV000990235 RCV001089193 RCV004755770 RCV001257854 RCV004815140
NM_000554.6(CRX):c.549G>A (p.Gly183=)	SNV Germline	Chr19:47839616	Conflicting classifications of pathogenicity	Condition: not provided Retinitis pigmentosa Cone-rod dystrophy 2 Leber congenital amaurosis 7 Leber congenital amaurosis 7 Cone-rod dystrophy 2	Criteria Provided Conflicting Classifications	CA227634	rs_61748451	4 SubmittersRCV000086010 RCV001132601 RCV001132602 RCV001132603 RCV001474134
NM_000554.6(CRX):c.597C>T (p.Ser199=)	SNV Germline	Chr19:47839664	Conflicting classifications of pathogenicity	Condition: not provided Retinitis pigmentosa Cone-rod dystrophy 2 Leber congenital amaurosis 7 Cone-rod dystrophy 2 Leber congenital amaurosis 7 CRX-related disorder	Criteria Provided Conflicting Classifications	CA227639	rs_61748455	4 SubmittersRCV000086014 RCV000368298 RCV000277021 RCV000311321 RCV001080501 RCV003905083
NM_003322.6(TULP1):c.1466A>G (p.Lys489Arg)	SNV Germline	Chr6:35500010	Pathogenic/Likely pathogenic	Condition: not provided Retinitis pigmentosa 14 Leber congenital amaurosis Retinal dystrophy Retinitis pigmentosa 14 Leber congenital amaurosis 15	Criteria Provided Multiple Submitters No Conflicts	CA227705	rs_62636511	7 SubmittersRCV000086069 RCV001542663 RCV004689604 RCV004794360 RCV005031592
NM_003322.6(TULP1):c.1486G>A (p.Ala496Thr)	SNV Germline	Chr6:35499990	Conflicting classifications of pathogenicity	Condition: not provided Retinitis pigmentosa Leber congenital amaurosis 15 not specified TULP1-related disorder	Criteria Provided Conflicting Classifications	CA227706	rs_141980901	9 SubmittersRCV000086070 RCV001156199 RCV001156200 RCV000591717 RCV004734646
NM_003322.6(TULP1):c.1495+1G>A	SNV Germline	Chr6:35499980	Pathogenic/Likely pathogenic	Condition: not provided Leber congenital amaurosis 15 Retinal dystrophy Retinitis pigmentosa 14 Autosomal recessive retinitis pigmentosa Leber congenital amaurosis 15 Retinitis pigmentosa 14	Criteria Provided Multiple Submitters No Conflicts	CA227708	rs_281865168	9 SubmittersRCV000086071 RCV000454167 RCV001075035 RCV000454250 RCV001257785 RCV005031593
NM_003322.6(TULP1):c.1496-6C>A	SNV Germline	Chr6:35498466	Pathogenic/Likely pathogenic	Condition: not provided Retinitis pigmentosa Leber congenital amaurosis 15 Retinitis pigmentosa 14 Retinal dystrophy Retinitis pigmentosa 14 Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA227709	rs_281865171	11 SubmittersRCV000086072 RCV000787923 RCV002483168 RCV001073440 RCV001376339 RCV002228330
NM_003322.6(TULP1):c.99+1G>A	SNV Germline	Chr6:35512638	Pathogenic/Likely pathogenic	Condition: not provided Retinitis pigmentosa 14 Leber congenital amaurosis 15	Criteria Provided Multiple Submitters No Conflicts	CA227719	rs_281865166	5 SubmittersRCV000086081 RCV001376338 RCV001255922
NM_014336.5(AIPL1):c.234C>T (p.Ser78=)	SNV Germline	Chr17:6433961	Conflicting classifications of pathogenicity	Condition: not provided Leber congenital amaurosis 4 Retinitis pigmentosa not specified	Criteria Provided Conflicting Classifications	CA227868	rs_62635774	4 SubmittersRCV000086214 RCV001078533 RCV001125502 RCV000363858
NM_014336.5(AIPL1):c.277-2A>G	SNV Germline	Chr17:6428508	Pathogenic	Condition: not provided Leber congenital amaurosis 4	Criteria Provided Single Submitter	CA227878	rs_140808549	3 SubmittersRCV000086221 RCV001172395
NM_014336.5(AIPL1):c.487C>T (p.Gln163Ter)	SNV Germline	Chr17:6427036	Pathogenic	Condition: not provided Leber congenital amaurosis 4	Criteria Provided Single Submitter	CA227884	rs_62637009	2 SubmittersRCV000086227 RCV003505096
NM_014336.5(AIPL1):c.765T>C (p.Asp255=)	SNV Germline	Chr17:6426634	Conflicting classifications of pathogenicity	Condition: not provided Retinitis Pigmentosa, Recessive Retinitis Pigmentosa, Dominant Leber congenital amaurosis 4	Criteria Provided Conflicting Classifications	CA227893	rs_62637018	3 SubmittersRCV000086232 RCV000263430 RCV000353479 RCV001085755
NM_014336.5(AIPL1):c.97-9G>A	SNV Germline	Chr17:6434107	Conflicting classifications of pathogenicity	Condition: not provided Retinitis Pigmentosa, Dominant Retinitis Pigmentosa, Recessive not specified Leber congenital amaurosis 4	Criteria Provided Conflicting Classifications	CA227901	rs_140124986	6 SubmittersRCV000086237 RCV000360989 RCV000303893 RCV001699204 RCV001080115
NM_020366.4(RPGRIP1):c.2237G>A (p.Gly746Glu)	SNV Germline	Chr14:21325253	Likely pathogenic	Condition: not provided Leber congenital amaurosis 6	No Assertion Criteria Provided	CA227910	rs_61751268	2 SubmittersRCV000086244 RCV001261183
NM_025114.4(CEP290):c.3814C>T (p.Arg1272Ter)	SNV Germline	Chr12:88089247	Pathogenic	Condition: not provided Joubert syndrome 5 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Joubert syndrome 5 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Meckel-Gruber syndrome Nephronophthisis Joubert syndrome Leber congenital amaurosis Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA227967	rs_62640581	9 SubmittersRCV000086289 RCV001199210 RCV002498466 RCV001216498 RCV001831897 RCV003467011
NM_025114.4(CEP290):c.4771C>T (p.Gln1591Ter)	SNV Germline	Chr12:88083888	Pathogenic	Condition: not provided Leber congenital amaurosis Joubert syndrome Nephronophthisis Meckel-Gruber syndrome Bardet-Biedl syndrome 14 CEP290-related disorder Senior-Loken syndrome 6 Joubert syndrome 5 Meckel syndrome, type 4 Leber congenital amaurosis 10 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA227973	rs_62640574	6 SubmittersRCV000086293 RCV001002936 RCV001385691 RCV003467013 RCV004542803 RCV005008008
NM_025114.4(CEP290):c.4966G>T (p.Glu1656Ter)	SNV Germline	Chr12:88083077	Pathogenic/Likely pathogenic	Condition: not provided CEP290-related disorder Joubert syndrome Nephronophthisis Meckel-Gruber syndrome Leber congenital amaurosis Senior-Loken syndrome 6 Retinitis pigmentosa Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 CEP290-related ciliopathy Senior-Loken syndrome 6 Joubert syndrome 5 Meckel syndrome, type 4 Leber congenital amaurosis 10 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA227975	rs_62638179	10 SubmittersRCV000086294 RCV000263885 RCV000637002 RCV001276492 RCV001335142 RCV001723671 RCV002227445 RCV003467014 RCV004593991 RCV005008009
NM_201253.3(CRB1):c.1148G>A (p.Cys383Tyr)	SNV Germline	Chr1:197356990	Pathogenic/Likely pathogenic	Condition: not provided Pigmented paravenous retinochoroidal atrophy Retinitis pigmentosa 12 Leber congenital amaurosis 8 Retinitis pigmentosa 12 Leber congenital amaurosis 8 Leber congenital amaurosis Leber congenital amaurosis 8 Retinitis pigmentosa 12 Pigmented paravenous retinochoroidal atrophy Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA227987	rs_62645754	8 SubmittersRCV000086304 RCV002498468 RCV001857423 RCV001002989 RCV001250593 RCV003453010 RCV003453011 RCV004815175
NM_201253.3(CRB1):c.1208C>G (p.Ser403Ter)	SNV Germline	Chr1:197421036	Pathogenic	Condition: not provided Leber congenital amaurosis 8 Retinitis pigmentosa 12 Leber congenital amaurosis 8	Criteria Provided Multiple Submitters No Conflicts	CA227988	rs_62645746	3 SubmittersRCV000086305 RCV003474690 RCV003764799
NM_201253.3(CRB1):c.1428C>T (p.Thr476=)	SNV Germline	Chr1:197421256	Conflicting classifications of pathogenicity	Condition: not provided Leber congenital amaurosis 8 Pigmented paravenous retinochoroidal atrophy Retinitis pigmentosa 12 Leber congenital amaurosis 8 Retinitis pigmentosa Retinal dystrophy	Criteria Provided Conflicting Classifications	CA227991	rs_62636282	5 SubmittersRCV000086307 RCV000310950 RCV000274599 RCV001080606 RCV000370258 RCV003888496
NM_201253.3(CRB1):c.1438T>C (p.Cys480Arg)	SNV Germline	Chr1:197421266	Pathogenic/Likely pathogenic	Condition: not provided Retinitis pigmentosa 12 Leber congenital amaurosis Retinitis pigmentosa 12 Leber congenital amaurosis 8 Pigmented paravenous retinochoroidal atrophy Pigmented paravenous retinochoroidal atrophy Retinitis pigmentosa 12 Leber congenital amaurosis 8 Retinal dystrophy Leber congenital amaurosis 8	Criteria Provided Multiple Submitters No Conflicts	CA227993	rs_62636264	9 SubmittersRCV000086308 RCV001376374 RCV001826777 RCV000797320 RCV003453013 RCV005008010 RCV003235040 RCV003453012
NM_201253.3(CRB1):c.1647T>C (p.Asn549=)	SNV Germline	Chr1:197421475	Conflicting classifications of pathogenicity	Condition: not provided Leber congenital amaurosis 8 Retinitis pigmentosa Pigmented paravenous retinochoroidal atrophy Leber congenital amaurosis 8 Retinitis pigmentosa 12	Criteria Provided Conflicting Classifications	CA227996	rs_62636283	5 SubmittersRCV000086310 RCV000324209 RCV000283110 RCV000378808 RCV001084432
NM_201253.3(CRB1):c.2042G>A (p.Cys681Tyr)	SNV Germline	Chr1:197421870	Pathogenic/Likely pathogenic	Condition: not provided Leber congenital amaurosis 8 Retinitis pigmentosa 12 Retinal dystrophy Leber congenital amaurosis Retinitis pigmentosa 12 Leber congenital amaurosis 8	Criteria Provided Multiple Submitters No Conflicts	CA228000	rs_62636266	9 SubmittersRCV000086312 RCV001046839 RCV004815176 RCV001831900 RCV003453015 RCV003453016
NM_201253.3(CRB1):c.2128G>C (p.Glu710Gln)	SNV Germline	Chr1:197421956	Pathogenic	Condition: not provided Leber congenital amaurosis 8 Retinitis pigmentosa 12 Leber congenital amaurosis 8	Criteria Provided Single Submitter	CA228001	rs_62645755	3 SubmittersRCV000086313 RCV001250598 RCV003764800
NM_201253.3(CRB1):c.2222T>C (p.Met741Thr)	SNV Germline	Chr1:197427547	Pathogenic/Likely pathogenic	Condition: not provided Leber congenital amaurosis 8 Retinitis pigmentosa 12 Leber congenital amaurosis 8 Retinitis pigmentosa 12	Criteria Provided Multiple Submitters No Conflicts	CA228002	rs_62636267	5 SubmittersRCV000086314 RCV001250657 RCV001380408 RCV003453017
NM_201253.3(CRB1):c.2479G>T (p.Gly827Ter)	SNV Germline	Chr1:197427804	Pathogenic	Condition: not provided Leber congenital amaurosis 8	No Assertion Criteria Provided	CA228009	rs_62636269	2 SubmittersRCV000086320 RCV001250636
NM_201253.3(CRB1):c.2555T>C (p.Ile852Thr)	SNV Germline	Chr1:197427880	Pathogenic/Likely pathogenic	Condition: not provided Retinitis pigmentosa 12 Leber congenital amaurosis 8 Leber congenital amaurosis 8 Leber congenital amaurosis Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA228013	rs_62636271	6 SubmittersRCV000086323 RCV000529725 RCV001250658 RCV001002996 RCV004815177
NM_201253.3(CRB1):c.2681A>G (p.Asn894Ser)	SNV Germline	Chr1:197429453	Conflicting classifications of pathogenicity	Condition: not provided Pigmented paravenous retinochoroidal atrophy Leber congenital amaurosis 8 Retinitis pigmentosa 12 Leber congenital amaurosis 8 Retinitis pigmentosa 12 Leber congenital amaurosis 8 Optic atrophy Retinitis pigmentosa 12 Leber congenital amaurosis CRB1-related disorder Hereditary macular dystrophy	Criteria Provided Conflicting Classifications	CA228017	rs_62636290	9 SubmittersRCV000086327 RCV000763788 RCV001239396 RCV001526761 RCV004815178 RCV001563888 RCV001826778 RCV004529904 RCV005359026
NM_201253.3(CRB1):c.2688T>A (p.Cys896Ter)	SNV Germline	Chr1:197429460	Pathogenic	Condition: not provided Retinitis pigmentosa 12 Leber congenital amaurosis 8 Macular dystrophy Leber congenital amaurosis 8 Leber congenital amaurosis Retinitis pigmentosa 12 Retinitis pigmentosa Retinal dystrophy Pigmented paravenous retinochoroidal atrophy Pigmented paravenous retinochoroidal atrophy Retinitis pigmentosa 12 Leber congenital amaurosis 8	Criteria Provided Multiple Submitters No Conflicts	CA203679	rs_62636273	15 SubmittersRCV000086328 RCV000542027 RCV000505142 RCV001250608 RCV001275654 RCV001376474 RCV001723672 RCV001074017 RCV003453019 RCV005008011
NM_201253.3(CRB1):c.3074G>T (p.Ser1025Ile)	SNV Germline	Chr1:197434937	Likely pathogenic	Condition: not provided Leber congenital amaurosis 8	No Assertion Criteria Provided	CA228030	rs_62636274	2 SubmittersRCV000086335 RCV001250614
NM_201253.3(CRB1):c.3299T>C (p.Ile1100Thr)	SNV Germline	Chr1:197435162	Pathogenic/Likely pathogenic	Condition: not provided Retinitis pigmentosa 12 Leber congenital amaurosis 8 Pigmented paravenous retinochoroidal atrophy Retinitis pigmentosa 12 Leber congenital amaurosis 8	Criteria Provided Multiple Submitters No Conflicts	CA228035	rs_62635659	5 SubmittersRCV000086339 RCV001857424 RCV002247492 RCV003453026 RCV003453027
NM_201253.3(CRB1):c.3320T>C (p.Leu1107Pro)	SNV Germline	Chr1:197435183	Pathogenic/Likely pathogenic	Condition: not provided Retinitis pigmentosa 12 Leber congenital amaurosis 8 Retinal dystrophy Leber congenital amaurosis 8 Pigmented paravenous retinochoroidal atrophy Pigmented paravenous retinochoroidal atrophy Retinitis pigmentosa 12 Leber congenital amaurosis 8 Retinitis pigmentosa 12	Criteria Provided Multiple Submitters No Conflicts	CA228036	rs_62636276	7 SubmittersRCV000086342 RCV001378740 RCV001075774 RCV001250617 RCV003453029 RCV005008012 RCV003453028
NM_201253.3(CRB1):c.3320T>G (p.Leu1107Arg)	SNV Germline	Chr1:197435183	Pathogenic	Condition: not provided Leber congenital amaurosis 8 Retinitis pigmentosa 12 Leber congenital amaurosis 8	Criteria Provided Single Submitter	CA228037	rs_62636276	3 SubmittersRCV000086343 RCV001250629 RCV002514529
NM_201253.3(CRB1):c.3331G>T (p.Glu1111Ter)	SNV Germline	Chr1:197435194	Pathogenic	Condition: not provided Retinitis pigmentosa 12 Leber congenital amaurosis 8	Criteria Provided Single Submitter	CA228038	rs_62636277	2 SubmittersRCV000086344 RCV002514530
NM_201253.3(CRB1):c.3879G>A (p.Trp1293Ter)	SNV Germline	Chr1:197442166	Pathogenic	Condition: not provided Retinitis pigmentosa 12 Leber congenital amaurosis 8 Leber congenital amaurosis 8 Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA228044	rs_281865174	5 SubmittersRCV000086348 RCV001857425 RCV001250619 RCV004794361
NM_201253.3(CRB1):c.3961T>A (p.Cys1321Ser)	SNV Germline	Chr1:197442248	Likely pathogenic	Condition: not provided Leber congenital amaurosis 8	No Assertion Criteria Provided	CA228047	rs_62635649	2 SubmittersRCV000086350 RCV001250646
NM_201253.3(CRB1):c.430T>G (p.Phe144Val)	SNV Germline	Chr1:197328781	Conflicting classifications of pathogenicity	Condition: not provided Leber congenital amaurosis Retinitis pigmentosa 12 Leber congenital amaurosis 8 Retinitis pigmentosa 12	Criteria Provided Conflicting Classifications	CA228050	rs_62636262	4 SubmittersRCV000086355 RCV001826780 RCV001242505 RCV001588920
NM_201253.3(CRB1):c.614T>C (p.Ile205Thr)	SNV Germline	Chr1:197328965	Conflicting classifications of pathogenicity	Condition: not provided Pigmented paravenous retinochoroidal atrophy Intellectual disability Leber congenital amaurosis Retinitis pigmentosa Retinitis pigmentosa 12 Leber congenital amaurosis 8 Leber congenital amaurosis 8 Leber congenital amaurosis 1	Criteria Provided Conflicting Classifications	CA228054	rs_62645749	10 SubmittersRCV000086360 RCV000288080 RCV001251962 RCV001271893 RCV000787825 RCV001080600 RCV000382919 RCV000986485
NM_014336.5(AIPL1):c.937G>T (p.Ala313Ser)	SNV Germline	Chr17:6425678	Conflicting classifications of pathogenicity	Condition: not provided Leber congenital amaurosis 4 not specified	Criteria Provided Conflicting Classifications	CA228922	rs_115681466	6 SubmittersRCV000086968 RCV001085684 RCV001699038
NM_201253.3(CRB1):c.99G>T (p.Arg33Ser)	SNV Germline	Chr1:197328450	Conflicting classifications of pathogenicity	Condition: not provided Pigmented paravenous retinochoroidal atrophy Retinitis pigmentosa Leber congenital amaurosis 8 Retinitis pigmentosa 12 Leber congenital amaurosis 8	Criteria Provided Conflicting Classifications	CA228954	rs_59691602	4 SubmittersRCV000087005 RCV000346080 RCV000309890 RCV000391581 RCV001082725
NM_025114.4(CEP290):c.3442C>G (p.Leu1148Val)	SNV Germline	Chr12:88092700	Conflicting classifications of pathogenicity	Meckel-Gruber syndrome Joubert syndrome Nephronophthisis Meckel-Gruber syndrome Leber congenital amaurosis CEP290-related disorder	Criteria Provided Conflicting Classifications	CA150905	rs_372190684	4 SubmittersRCV000114194 RCV000636999 RCV001831902 RCV004542807
NM_025114.4(CEP290):c.5237G>A (p.Arg1746Gln)	SNV Germline	Chr12:88079219	Conflicting classifications of pathogenicity	not specified Leber congenital amaurosis 10 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Condition: not provided Joubert syndrome 5 Senior-Loken syndrome 6 Joubert syndrome Nephronophthisis Meckel-Gruber syndrome Leber congenital amaurosis Kidney disorder Retinal dystrophy	Criteria Provided Conflicting Classifications	CA150915	rs_61941020	18 SubmittersRCV000114201 RCV000336982 RCV000352237 RCV000399104 RCV000436165 RCV000292636 RCV000407985 RCV001084256 RCV001826782 RCV002294031 RCV003888506
NM_025132.4(WDR19):c.3533G>A (p.Arg1178Gln)	SNV Germline	Chr4:39273029	Pathogenic/Likely pathogenic	Senior-Loken syndrome 8 Condition: not provided Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8 Nephronophthisis 13 Senior-Loken syndrome 8 Cranioectodermal dysplasia 4 Nephronophthisis 13 Leber congenital amaurosis WDR19-related disorder Cranioectodermal dysplasia 4 Asphyxiating thoracic dystrophy 5 Nephronophthisis 13 Senior-Loken syndrome 8 Cranioectodermal dysplasia Cranioectodermal dysplasia 4 Spermatogenic failure 72 Asphyxiating thoracic dystrophy 5 Nephronophthisis 13 Senior-Loken syndrome 8	Criteria Provided Multiple Submitters No Conflicts	CA151412	rs_79436363	11 SubmittersRCV000115014 RCV000433622 RCV000653250 RCV000850617 RCV003224150 RCV003224149 RCV001262101 RCV005250018 RCV005359057 RCV000754960 RCV005031600
NM_025114.4(CEP290):c.1624-5T>C	SNV Germline	Chr12:88118575	Conflicting classifications of pathogenicity	not specified Senior-Loken syndrome 6 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Nephronophthisis Joubert syndrome Meckel-Gruber syndrome Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Joubert syndrome 5 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Leber congenital amaurosis Kidney disorder	Criteria Provided Conflicting Classifications	CA290037	rs_142742071	9 SubmittersRCV000124244 RCV000262275 RCV000361419 RCV000297299 RCV000321698 RCV000475858 RCV000266641 RCV002505080 RCV001274128 RCV002294036
NM_025114.4(CEP290):c.3465G>A (p.Leu1155=)	SNV Germline	Chr12:88090836	Conflicting classifications of pathogenicity	not specified Joubert syndrome 5 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Nephronophthisis Joubert syndrome Meckel-Gruber syndrome Leber congenital amaurosis Condition: not provided Kidney disorder	Criteria Provided Conflicting Classifications	CA290039	rs_150138016	7 SubmittersRCV000124246 RCV000293222 RCV000337209 RCV000279934 RCV000375509 RCV000372128 RCV000459124 RCV001271579 RCV001812001 RCV002294037
NM_025114.4(CEP290):c.5199A>G (p.Gln1733=)	SNV Germline	Chr12:88080209	Conflicting classifications of pathogenicity	not specified Leber congenital amaurosis 10 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Nephronophthisis Joubert syndrome Meckel-Gruber syndrome Joubert syndrome 5 Meckel syndrome, type 4 Condition: not provided Leber congenital amaurosis Kidney disorder	Criteria Provided Conflicting Classifications	CA290041	rs_79644671	8 SubmittersRCV000124248 RCV000319253 RCV000259368 RCV000354431 RCV000472139 RCV000267777 RCV000322977 RCV001812002 RCV001276489 RCV002294038
NM_000554.6(CRX):c.897G>C (p.Leu299Phe)	SNV Germline	Chr19:47839964	Conflicting classifications of pathogenicity	Retinitis pigmentosa Cone-rod dystrophy 2 Leber congenital amaurosis 7 Retinal dystrophy	Criteria Provided Conflicting Classifications	CA270029	rs_527236063	3 SubmittersRCV000132605 RCV005222764 RCV003888548
NM_003322.6(TULP1):c.349G>A (p.Glu117Lys)	SNV Germline	Chr6:35511648	Conflicting classifications of pathogenicity	Retinitis pigmentosa Condition: not provided Retinitis pigmentosa 14 Retinitis pigmentosa 14 Leber congenital amaurosis 15	Criteria Provided Conflicting Classifications	CA270083	rs_527236117	5 SubmittersRCV000132650 RCV001378479 RCV001376329 RCV005031648
NM_004744.5(LRAT):c.163C>T (p.Arg55Trp)	SNV Germline	Chr4:154744489	Pathogenic	Retinitis pigmentosa Condition: not provided Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA270087	rs_527236079	3 SubmittersRCV000132653 RCV003556177 RCV005431484
NM_025114.4(CEP290):c.6787A>G (p.Ser2263Gly)	SNV Germline	Chr12:88058879	Conflicting classifications of pathogenicity	not specified Condition: not provided Meckel syndrome, type 4 Joubert syndrome 1 Joubert syndrome 5 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Leber congenital amaurosis Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Retinal dystrophy	Criteria Provided Conflicting Classifications	CA207418	rs_77778467	12 SubmittersRCV000193732 RCV000132681 RCV001110731 RCV000988879 RCV001110732 RCV000490488 RCV001109949 RCV001109950 RCV001272010 RCV001083794 RCV003888568
NM_201253.3(CRB1):c.1576C>T (p.Arg526Ter)	SNV Germline	Chr1:197421404	Pathogenic/Likely pathogenic	Leber congenital amaurosis 8 Condition: not provided Retinal dystrophy Retinitis pigmentosa 12 Leber congenital amaurosis 8 Retinitis pigmentosa 12 Pigmented paravenous retinochoroidal atrophy Leber congenital amaurosis 8 Leber congenital amaurosis Retinitis pigmentosa 12 Pigmented paravenous retinochoroidal atrophy	Criteria Provided Multiple Submitters No Conflicts	CA170083	rs_114342808	14 SubmittersRCV000132698 RCV000179572 RCV001073589 RCV000792250 RCV005008044 RCV001002990 RCV003453098 RCV003453099
NM_206933.4(USH2A):c.14243C>T (p.Ser4748Phe)	SNV Germline	Chr1:215650692	Pathogenic/Likely pathogenic	Retinitis pigmentosa Leber congenital amaurosis Retinitis pigmentosa 39 Usher syndrome type 2A Retinal dystrophy Condition: not provided Retinitis pigmentosa 39	Criteria Provided Multiple Submitters No Conflicts	CA270145	rs_527236126	7 SubmittersRCV000132706 RCV000144482 RCV000675147 RCV003888572 RCV002514760 RCV003462051
NM_025114.4(CEP290):c.1711+1G>A	SNV Germline	Chr12:88118482	Pathogenic/Likely pathogenic	Leber congenital amaurosis 10 Meckel-Gruber syndrome Joubert syndrome Nephronophthisis Leber congenital amaurosis 10 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Bardet-Biedl syndrome 14 CEP290-related disorder Bardet-Biedl syndrome 14 Retinal dystrophy Joubert syndrome 5	Criteria Provided Multiple Submitters No Conflicts	CA345951	rs_587783009	7 SubmittersRCV000144459 RCV001384909 RCV002492522 RCV003387770 RCV003467201 RCV003888575 RCV005252766
NM_020366.4(RPGRIP1):c.1892A>T (p.His631Leu)	SNV Unknown	Chr14:21324747	Pathogenic	Leber congenital amaurosis 6	No Assertion Criteria Provided	CA170857	rs_535922252	1 SubmittersRCV000144462
NM_001134831.2(AHI1):c.2174G>A (p.Trp725Ter)	SNV Germline	Chr6:135433119	Pathogenic/Likely pathogenic	Joubert syndrome 3 Retinitis pigmentosa Condition: not provided Leber congenital amaurosis Joubert syndrome	Criteria Provided Multiple Submitters No Conflicts	CA270780	rs_587783013	10 SubmittersRCV000144464 RCV000678521 RCV001698972 RCV001262092 RCV003495112
NM_201253.3(CRB1):c.998G>A (p.Gly333Asp)	SNV Germline	Chr1:197356840	Pathogenic	Leber congenital amaurosis 8 Leber congenital amaurosis 8 Retinitis pigmentosa 12	Criteria Provided Single Submitter	CA170860	rs_587783015	2 SubmittersRCV000144466 RCV003764878
NM_025114.4(CEP290):c.3904C>T (p.Gln1302Ter)	SNV Germline	Chr12:88089157	Pathogenic	Leber congenital amaurosis 10 Joubert syndrome 5 Meckel-Gruber syndrome Joubert syndrome Nephronophthisis Leber congenital amaurosis Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA277711	rs_587783016	5 SubmittersRCV000144467 RCV000201586 RCV001385693 RCV001831927 RCV003467203
NM_020366.4(RPGRIP1):c.832C>T (p.Arg278Ter)	SNV Germline	Chr14:21307762	Pathogenic	Leber congenital amaurosis 6 Leber congenital amaurosis 6 Cone-rod dystrophy 13	Criteria Provided Single Submitter	CA170861	rs_587783018	3 SubmittersRCV000144469 RCV001380810
NM_020366.4(RPGRIP1):c.2356C>T (p.Gln786Ter)	SNV Unknown	Chr14:21325372	Pathogenic	Leber congenital amaurosis 6	No Assertion Criteria Provided	CA170863	rs_587783019	1 SubmittersRCV000144470
NM_025114.4(CEP290):c.4250A>G (p.Gln1417Arg)	SNV Germline	Chr12:88086443	Conflicting classifications of pathogenicity	Condition: not provided Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Joubert syndrome 5 Meckel syndrome, type 4 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Joubert syndrome 5 Bardet-Biedl syndrome 14 Meckel-Gruber syndrome Nephronophthisis Joubert syndrome Leber congenital amaurosis Inborn genetic diseases CEP290-related disorder	Criteria Provided Conflicting Classifications	CA233675	rs_201504946	8 SubmittersRCV000152977 RCV000281671 RCV000313475 RCV000348281 RCV000373904 RCV000390170 RCV000763864 RCV001245512 RCV001279535 RCV002516071 RCV004528881
NM_025114.4(CEP290):c.226G>A (p.Ala76Thr)	SNV Germline	Chr12:88139519	Conflicting classifications of pathogenicity	Condition: not provided Leber congenital amaurosis 10 Senior-Loken syndrome 6 Meckel-Gruber syndrome Nephronophthisis Joubert syndrome Joubert syndrome 5 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 not specified Inborn genetic diseases CEP290-related disorder	Criteria Provided Conflicting Classifications	CA233682	rs_373913704	9 SubmittersRCV000723892 RCV001109956 RCV001110741 RCV001079764 RCV001110739 RCV001110738 RCV001110740 RCV001818343 RCV003298162 RCV004528882
NM_201253.3(CRB1):c.2291G>A (p.Arg764His)	SNV Germline	Chr1:197427616	Conflicting classifications of pathogenicity	Condition: not provided Leber congenital amaurosis 8 Retinitis pigmentosa 12 Leber congenital amaurosis 8 Leber congenital amaurosis Pigmented paravenous retinochoroidal atrophy Leber congenital amaurosis 8 Pigmented paravenous retinochoroidal atrophy Retinitis pigmentosa 12	Criteria Provided Conflicting Classifications	CA233861	rs_375040930	8 SubmittersRCV000153110 RCV001235069 RCV001250605 RCV001831949 RCV002247550 RCV004796048
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln)	SNV Germline	Chr12:88125356	Conflicting classifications of pathogenicity	not specified Condition: not provided Joubert syndrome 1 Meckel-Gruber syndrome Nephronophthisis Joubert syndrome Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 Leber congenital amaurosis Atypical hemolytic-uremic syndrome Retinal dystrophy	Criteria Provided Conflicting Classifications	CA179860	rs_188164241	16 SubmittersRCV000152980 RCV000658663 RCV000988890 RCV001084283 RCV001110571 RCV001110567 RCV001110568 RCV001110569 RCV001110570 RCV001275040 RCV002294046 RCV004815226
NM_001164688.2(RD3):c.139C>T (p.Arg47Cys)	SNV Germline	Chr1:211481277	Conflicting classifications of pathogenicity	not specified Leber congenital amaurosis 12 Condition: not provided	Criteria Provided Conflicting Classifications	CA180366	rs_34049451	4 SubmittersRCV000153816 RCV000877817 RCV003416004
NM_025114.4(CEP290):c.6401T>C (p.Ile2134Thr)	SNV Germline	Chr12:88060951	Conflicting classifications of pathogenicity	not specified Condition: not provided Meckel-Gruber syndrome Nephronophthisis Joubert syndrome Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis 10 Leber congenital amaurosis Intellectual disability	Criteria Provided Conflicting Classifications	CA179856	rs_117852025	14 SubmittersRCV000152970 RCV000224947 RCV001082043 RCV001114081 RCV001114077 RCV001114078 RCV001114079 RCV001114080 RCV001272012 RCV001252445
NM_025114.4(CEP290):c.1667T>A (p.Ile556Asn)	SNV Germline	Chr12:88118527	Conflicting classifications of pathogenicity	not specified Condition: not provided Meckel-Gruber syndrome Nephronophthisis Joubert syndrome Leber congenital amaurosis CEP290-related disorder	Criteria Provided Conflicting Classifications	CA233677	rs_727503854	5 SubmittersRCV000152978 RCV000723757 RCV001058824 RCV001275036 RCV004532719
NM_014336.5(AIPL1):c.1006G>A (p.Ala336Thr)	SNV Germline	Chr17:6425609	Conflicting classifications of pathogenicity	not specified Condition: not provided Leber congenital amaurosis 4 Retinal dystrophy AIPL1-related disorder	Criteria Provided Conflicting Classifications	CA233457	rs_143092701	8 SubmittersRCV000152763 RCV000723947 RCV001085552 RCV004815222 RCV004732710
NM_201253.3(CRB1):c.3166G>T (p.Asp1056Tyr)	SNV Germline	Chr1:197435029	Conflicting classifications of pathogenicity	Condition: not provided Retinitis pigmentosa 12 Leber congenital amaurosis 8 Retinitis pigmentosa 12	Criteria Provided Conflicting Classifications	CA233863	rs_727503889	4 SubmittersRCV000153112 RCV001526715 RCV001850090
NM_018418.5(SPATA7):c.1033A>G (p.Met345Val)	SNV Germline	Chr14:88431176	Conflicting classifications of pathogenicity	Condition: not provided Retinitis pigmentosa Leber congenital amaurosis 3 Retinal dystrophy	Criteria Provided Conflicting Classifications	CA234982	rs_375371982	6 SubmittersRCV000153988 RCV001120978 RCV001049973 RCV003888597
NM_014336.5(AIPL1):c.453C>T (p.Ile151=)	SNV Germline	Chr17:6428330	Conflicting classifications of pathogenicity	Condition: not provided Leber congenital amaurosis 4	Criteria Provided Conflicting Classifications	CA233446	rs_727503799	2 SubmittersRCV000152748 RCV001475204
NM_025114.4(CEP290):c.5055G>A (p.Ala1685=)	SNV Germline	Chr12:88080353	Conflicting classifications of pathogenicity	Condition: not provided Joubert syndrome 5 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Meckel syndrome, type 4 Meckel-Gruber syndrome Nephronophthisis Joubert syndrome Retinal dystrophy	Criteria Provided Conflicting Classifications	CA233673	rs_73192874	4 SubmittersRCV000152976 RCV000400108 RCV000291841 RCV000344957 RCV000399776 RCV000346891 RCV001085341 RCV003888583
NM_201253.3(CRB1):c.1533C>T (p.Ala511=)	SNV Germline	Chr1:197421361	Conflicting classifications of pathogenicity	not specified Pigmented paravenous retinochoroidal atrophy Leber congenital amaurosis 8 Retinitis pigmentosa Condition: not provided Retinitis pigmentosa 12 Leber congenital amaurosis 8 Leber congenital amaurosis Retinitis pigmentosa 12	Criteria Provided Conflicting Classifications	CA233859	rs_142224492	7 SubmittersRCV000153109 RCV000272435 RCV000327584 RCV000377522 RCV000755993 RCV001085035 RCV001275648 RCV001532866
NM_019098.5(CNGB3):c.991-3T>G	SNV Germline	Chr8:86644689	Pathogenic	Achromatopsia 3 Leber congenital amaurosis Condition: not provided Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA274008	rs_773372519	8 SubmittersRCV000169173 RCV000678548 RCV001036288 RCV001074271
NM_018418.5(SPATA7):c.94+2T>C	SNV Germline	Chr14:88391457	Likely pathogenic	Leber congenital amaurosis 3	Criteria Provided Multiple Submitters No Conflicts	CA274500	rs_786204787	2 SubmittersRCV000169677
NM_001164688.2(RD3):c.180C>A (p.Tyr60Ter)	SNV Germline	Chr1:211481236	Pathogenic	Leber congenital amaurosis 12 Condition: not provided Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA274682	rs_762631020	3 SubmittersRCV000170305 RCV001726018 RCV005417984
NM_001164688.2(RD3):c.112C>T (p.Arg38Ter)	SNV Germline	Chr1:211481304	Pathogenic	Leber congenital amaurosis 12 Abnormality of the eye Retinal dystrophy RD3-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA274684	rs_786205148	6 SubmittersRCV000170306 RCV001814086 RCV004815266 RCV003895172
NM_001164688.2(RD3):c.136G>T (p.Glu46Ter)	SNV Germline	Chr1:211481280	Pathogenic	Leber congenital amaurosis 12	No Assertion Criteria Provided	CA274687	rs_786205150	1 SubmittersRCV000170308
NM_022787.4(NMNAT1):c.53A>G (p.Asn18Ser)	SNV Germline	Chr1:9972126	Pathogenic/Likely pathogenic	Condition: not provided Retinal dystrophy Leber congenital amaurosis 9	Criteria Provided Multiple Submitters No Conflicts	CA235735	rs_748902766	8 SubmittersRCV000171148 RCV001075815 RCV001256641
NM_201253.3(CRB1):c.1180T>C (p.Cys394Arg)	SNV Germline	Chr1:197421008	Pathogenic	Condition: not provided Autosomal recessive retinitis pigmentosa Retinitis pigmentosa 12 Leber congenital amaurosis 8 Retinitis pigmentosa 12	Criteria Provided Multiple Submitters No Conflicts	CA235768	rs_786205450	3 SubmittersRCV000171163 RCV001257859 RCV003765070 RCV004527365
NM_201253.3(CRB1):c.1783G>A (p.Ala595Thr)	SNV Germline	Chr1:197421611	Conflicting classifications of pathogenicity	Condition: not provided Leber congenital amaurosis 8 Retinitis pigmentosa 12	Criteria Provided Conflicting Classifications	CA235770	rs_752212470	2 SubmittersRCV000171164 RCV001563787 RCV001563788
NM_018418.5(SPATA7):c.288T>A (p.Cys96Ter)	SNV Germline	Chr14:88416760	Pathogenic/Likely pathogenic	Condition: not provided Retinitis pigmentosa Autosomal recessive retinitis pigmentosa Leber congenital amaurosis 3 Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA235914	rs_767745816	9 SubmittersRCV000171226 RCV001003226 RCV001257831 RCV001852064 RCV005237635
NM_000554.6(CRX):c.274G>A (p.Ala92Thr)	SNV Germline	Chr19:47839341	Conflicting classifications of pathogenicity	Condition: not provided Leber congenital amaurosis 7 Cone-rod dystrophy 2 Autosomal dominant retinitis pigmentosa	Criteria Provided Conflicting Classifications	CA236030	rs_786205521	3 SubmittersRCV000171286 RCV001342675 RCV001257853
NM_002242.4(KCNJ13):c.359T>C (p.Ile120Thr)	SNV Germline	Chr2:232771004	Pathogenic	Condition: not provided Leber congenital amaurosis 16	Criteria Provided Single Submitter	CA236131	rs_786205550	2 SubmittersRCV000171339 RCV000210435
NM_003322.6(TULP1):c.1256G>A (p.Arg419Gln)	SNV Germline	Chr6:35503626	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive retinitis pigmentosa Retinal dystrophy Leber congenital amaurosis Retinitis pigmentosa 14 Leber congenital amaurosis 15	Criteria Provided Conflicting Classifications	CA236254	rs_770045008	8 SubmittersRCV000171394 RCV001257784 RCV003888608 RCV005406883 RCV004796064
NM_201253.3(CRB1):c.2783G>A (p.Cys928Tyr)	SNV Germline	Chr1:197429555	Conflicting classifications of pathogenicity	Retinitis pigmentosa not specified Leber congenital amaurosis 8	Criteria Provided Conflicting Classifications	CA279259	rs_863223341	4 SubmittersRCV000201433 RCV005417986 RCV003474924
NM_003322.6(TULP1):c.961T>G (p.Tyr321Asp)	SNV Germline	Chr6:35506041	Conflicting classifications of pathogenicity	Condition: not provided Retinitis pigmentosa 14 Leber congenital amaurosis 15	Criteria Provided Conflicting Classifications	CA239234	rs_794726991	3 SubmittersRCV000173773 RCV005031703
NM_000883.4(IMPDH1):c.1108G>A (p.Ala370Thr)	SNV Germline	Chr7:128396989	Conflicting classifications of pathogenicity	not specified Leber congenital amaurosis 11 Retinitis pigmentosa Leber congenital amaurosis 11 Retinitis pigmentosa 10 Condition: not provided IMPDH1-related disorder	Criteria Provided Conflicting Classifications	CA239483	rs_72624961	6 SubmittersRCV000174020 RCV000281510 RCV000322287 RCV000765929 RCV000877998 RCV004535194
NM_025114.4(CEP290):c.1522+6C>T	SNV Germline	Chr12:88120108	Conflicting classifications of pathogenicity	not specified Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Meckel syndrome, type 4 Leber congenital amaurosis 10 Joubert syndrome 5 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Condition: not provided	Criteria Provided Conflicting Classifications	CA201235	rs_148446546	9 SubmittersRCV000174953 RCV001084413 RCV001112002 RCV001112003 RCV001112004 RCV001112005 RCV001112006 RCV000835406
NM_025114.4(CEP290):c.1716A>G (p.Leu572=)	SNV Germline	Chr12:88117141	Conflicting classifications of pathogenicity	not specified Condition: not provided Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Leber congenital amaurosis	Criteria Provided Conflicting Classifications	CA241104	rs_372349042	6 SubmittersRCV000175368 RCV000724312 RCV001088014 RCV001275034
NM_000180.4(GUCY2D):c.519C>T (p.Tyr173=)	SNV Germline	Chr17:8003566	Conflicting classifications of pathogenicity	Condition: not provided Leber congenital amaurosis 1 Cone-rod dystrophy 6	Criteria Provided Conflicting Classifications	CA241300	rs_794727237	2 SubmittersRCV000175542 RCV002056937
NM_020366.4(RPGRIP1):c.154C>T (p.Arg52Ter)	SNV Germline	Chr14:21294745	Pathogenic/Likely pathogenic	Cone-rod dystrophy 13 Condition: not provided Leber congenital amaurosis 6 Cone-rod dystrophy 13 Leber congenital amaurosis 6 Retinitis pigmentosa	Criteria Provided Multiple Submitters No Conflicts	CA201680	rs_192003551	8 SubmittersRCV000175918 RCV000724658 RCV001261169 RCV001852161 RCV005417990
NM_020366.4(RPGRIP1):c.95T>A (p.Met32Lys)	SNV Germline	Chr14:21294686	Conflicting classifications of pathogenicity	Condition: not provided Cone-rod dystrophy 13 Leber congenital amaurosis 6 Cone-rod dystrophy 13 Leber congenital amaurosis 6 not specified Retinal dystrophy	Criteria Provided Conflicting Classifications	CA241768	rs_200510462	11 SubmittersRCV000175919 RCV000763911 RCV001110994 RCV001110995 RCV001698989 RCV004816274
NM_022787.4(NMNAT1):c.37G>A (p.Ala13Thr)	SNV Germline	Chr1:9972110	Conflicting classifications of pathogenicity	Condition: not provided Retinal dystrophy Leber congenital amaurosis 9 NMNAT1-related disorder	Criteria Provided Conflicting Classifications	CA241796	rs_138613460	10 SubmittersRCV000175940 RCV001074101 RCV001256640 RCV004757972
NM_201253.3(CRB1):c.600A>G (p.Thr200=)	SNV Germline	Chr1:197328951	Conflicting classifications of pathogenicity	not specified Retinitis pigmentosa Leber congenital amaurosis 8 Pigmented paravenous retinochoroidal atrophy Retinitis pigmentosa 12 Leber congenital amaurosis 8 Condition: not provided Leber congenital amaurosis	Criteria Provided Conflicting Classifications	CA201752	rs_77713666	7 SubmittersRCV000176012 RCV000331649 RCV000277900 RCV000386258 RCV000878480 RCV001727616 RCV001832005
NM_020366.4(RPGRIP1):c.3749-2A>G	SNV Germline	Chr14:21351102	Conflicting classifications of pathogenicity	Condition: not provided Leber congenital amaurosis 6 Leber congenital amaurosis 6 Cone-rod dystrophy 13 Cone-rod dystrophy 13	Criteria Provided Conflicting Classifications	CA201956	rs_376517859	3 SubmittersRCV000176499 RCV001800514 RCV001226493 RCV001800515
NM_025114.4(CEP290):c.2980G>A (p.Glu994Lys)	SNV Germline	Chr12:88102849	Conflicting classifications of pathogenicity	Condition: not provided Joubert syndrome 5 Senior-Loken syndrome 6 Joubert syndrome Meckel-Gruber syndrome Nephronophthisis not specified Meckel syndrome, type 4 Leber congenital amaurosis 10 Leber congenital amaurosis Retinal dystrophy Bardet-Biedl syndrome 14 CEP290-related disorder	Criteria Provided Conflicting Classifications	CA205610	rs_182369459	11 SubmittersRCV000176690 RCV000660467 RCV001113515 RCV001082205 RCV000192651 RCV001111528 RCV001111529 RCV001275025 RCV004816280 RCV001113514 RCV004528939
NM_000329.3(RPE65):c.168A>G (p.Pro56=)	SNV Germline	Chr1:68446787	Conflicting classifications of pathogenicity	Condition: not provided Leber congenital amaurosis 2 Retinitis pigmentosa 20 Retinal dystrophy	Criteria Provided Conflicting Classifications	CA243145	rs_150260489	3 SubmittersRCV000177043 RCV001088492 RCV004816282
NM_014336.5(AIPL1):c.318G>A (p.Gln106=)	SNV Germline	Chr17:6428465	Conflicting classifications of pathogenicity	Condition: not provided Leber congenital amaurosis 4	Criteria Provided Conflicting Classifications	CA243418	rs_142208422	2 SubmittersRCV000177280 RCV001086100
NM_014336.5(AIPL1):c.401A>T (p.Tyr134Phe)	SNV Germline	Chr17:6428382	Conflicting classifications of pathogenicity	not specified Condition: not provided Leber congenital amaurosis 1 Leber congenital amaurosis 4	Criteria Provided Conflicting Classifications	CA202389	rs_16955851	9 SubmittersRCV000177283 RCV000487555 RCV000989685 RCV001082876
NM_025114.4(CEP290):c.3654T>C (p.Leu1218=)	SNV Germline	Chr12:88089407	Conflicting classifications of pathogenicity	not specified Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Joubert syndrome 5 Senior-Loken syndrome 6 Condition: not provided Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Leber congenital amaurosis Meckel syndrome, type 4 CEP290-related disorder	Criteria Provided Conflicting Classifications	CA202523	rs_201838492	12 SubmittersRCV000177576 RCV000400157 RCV000300808 RCV000335768 RCV000348352 RCV001699223 RCV000198308 RCV001826899 RCV000401126 RCV004528944
NM_025114.4(CEP290):c.4102G>A (p.Asp1368Asn)	SNV Germline	Chr12:88087872	Conflicting classifications of pathogenicity	Condition: not provided Leber congenital amaurosis not specified Inborn genetic diseases Joubert syndrome Meckel-Gruber syndrome Nephronophthisis	Criteria Provided Conflicting Classifications	CA244173	rs_184143186	8 SubmittersRCV000177662 RCV001273073 RCV003150971 RCV004975310 RCV001080328
NM_025114.4(CEP290):c.5182G>T (p.Glu1728Ter)	SNV Germline	Chr12:88080226	Pathogenic/Likely pathogenic	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Condition: not provided Leber congenital amaurosis Retinal dystrophy Meckel syndrome, type 4 Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Joubert syndrome 5 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6	Criteria Provided Multiple Submitters No Conflicts	CA275233	rs_370119681	11 SubmittersRCV001036300 RCV000523279 RCV001826904 RCV004816287 RCV002222427 RCV001376454 RCV003468864 RCV005003531
NM_025114.4(CEP290):c.5322C>T (p.Leu1774=)	SNV Germline	Chr12:88079134	Conflicting classifications of pathogenicity	not specified Senior-Loken syndrome 6 Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Leber congenital amaurosis Inborn genetic diseases CEP290-related disorder Meckel syndrome, type 4 Joubert syndrome 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA202689	rs_117370446	15 SubmittersRCV000178010 RCV000364677 RCV000328615 RCV000268862 RCV001082773 RCV001832019 RCV003352794 RCV004528947 RCV000265423 RCV000320490 RCV000712032
NM_000180.4(GUCY2D):c.1290C>T (p.Ala430=)	SNV Germline	Chr17:8006626	Conflicting classifications of pathogenicity	Condition: not provided Leber congenital amaurosis 1 Cone-rod dystrophy 6	Criteria Provided Conflicting Classifications	CA245077	rs_141967896	2 SubmittersRCV000178057 RCV001078797
NM_000180.4(GUCY2D):c.1093C>T (p.Arg365Trp)	SNV Germline	Chr17:8006429	Conflicting classifications of pathogenicity	Condition: not provided Cone-rod dystrophy 6 Cone-rod dystrophy 6 Leber congenital amaurosis 1 not specified Retinal dystrophy Cone-rod dystrophy 6 Leber congenital amaurosis 1 Choroidal dystrophy, central areolar, 1 Night blindness, congenital stationary, type1i GUCY2D-related disorder	Criteria Provided Conflicting Classifications	CA245079	rs_138836357	11 SubmittersRCV000487602 RCV000989735 RCV001083929 RCV001001148 RCV004816289 RCV005025284 RCV004748636
NM_000883.4(IMPDH1):c.336C>T (p.Ala112=)	SNV Germline	Chr7:128405784	Conflicting classifications of pathogenicity	Condition: not provided Retinitis pigmentosa Leber congenital amaurosis 11	Criteria Provided Conflicting Classifications	CA245158	rs_547740249	3 SubmittersRCV000178133 RCV000348403 RCV000395095
NM_025114.4(CEP290):c.6452T>C (p.Leu2151Ser)	SNV Germline	Chr12:88060900	Conflicting classifications of pathogenicity	not specified Condition: not provided Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Leber congenital amaurosis	Criteria Provided Conflicting Classifications	CA202959	rs_191613017	5 SubmittersRCV000178636 RCV001697163 RCV000637007 RCV001272011
NM_152443.3(RDH12):c.195A>C (p.Arg65=)	SNV Germline	Chr14:67725106	Conflicting classifications of pathogenicity	Condition: not provided Retinitis pigmentosa Leber congenital amaurosis 13	Criteria Provided Conflicting Classifications	CA246260	rs_771614823	3 SubmittersRCV000179017 RCV001109344 RCV001430505
NM_152443.3(RDH12):c.300C>T (p.Ser100=)	SNV Germline	Chr14:67725211	Conflicting classifications of pathogenicity	Condition: not provided Leber congenital amaurosis 13 Retinitis pigmentosa Leber congenital amaurosis	Criteria Provided Conflicting Classifications	CA246262	rs_746513362	4 SubmittersRCV000179018 RCV001088243 RCV001109346 RCV001275428
NM_000180.4(GUCY2D):c.1513C>T (p.Leu505=)	SNV Germline	Chr17:8007475	Conflicting classifications of pathogenicity	Condition: not provided Leber congenital amaurosis 1 Cone-rod dystrophy 6	Criteria Provided Conflicting Classifications	CA246545	rs_146849545	2 SubmittersRCV000179271 RCV001081206
NM_014336.5(AIPL1):c.971G>T (p.Arg324Leu)	SNV Germline	Chr17:6425644	Conflicting classifications of pathogenicity	Condition: not provided Leber congenital amaurosis 4 Retinitis pigmentosa Leber congenital amaurosis 4 Retinitis pigmentosa Retinal dystrophy	Criteria Provided Conflicting Classifications	CA246741	rs_150427474	8 SubmittersRCV000723621 RCV000765381 RCV001080307 RCV001124292 RCV004816300
NM_018418.5(SPATA7):c.815G>A (p.Arg272Gln)	SNV Germline	Chr14:88426674	Conflicting classifications of pathogenicity	not specified Retinitis pigmentosa Leber congenital amaurosis 3	Criteria Provided Conflicting Classifications	CA246774	rs_34682727	3 SubmittersRCV000179503 RCV000289051 RCV000642677
NM_025114.4(CEP290):c.343A>G (p.Asn115Asp)	SNV Germline	Chr12:88136741	Conflicting classifications of pathogenicity	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Senior-Loken syndrome 6 Condition: not provided not specified CEP290-related disorder Bardet-Biedl syndrome 14 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Leber congenital amaurosis 10 Joubert syndrome 5 Meckel syndrome, type 4 Senior-Loken syndrome 6 Retinal dystrophy	Criteria Provided Conflicting Classifications	CA246815	rs_140236736	7 SubmittersRCV001085617 RCV001112634 RCV000179537 RCV003488430 RCV004539683 RCV001112630 RCV001112631 RCV001112632 RCV001112633 RCV003227695 RCV003888636
NM_025114.4(CEP290):c.341G>A (p.Arg114His)	SNV Germline	Chr12:88136743	Conflicting classifications of pathogenicity	Condition: not provided not specified Leber congenital amaurosis Joubert syndrome 5 Leber congenital amaurosis 10 Joubert syndrome 5 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Joubert syndrome Meckel-Gruber syndrome Nephronophthisis CEP290-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA246817	rs_150296134	13 SubmittersRCV000724859 RCV000179538 RCV001275047 RCV001526756 RCV005008108 RCV001082749 RCV004537490 RCV005305978
NM_201253.3(CRB1):c.2462C>T (p.Thr821Met)	SNV Germline	Chr1:197427787	Conflicting classifications of pathogenicity	Condition: not provided Retinitis pigmentosa 12 Leber congenital amaurosis 8 Leber congenital amaurosis 8 Retinitis pigmentosa 12 Retinal dystrophy	Criteria Provided Conflicting Classifications	CA247395	rs_142857810	8 SubmittersRCV000488061 RCV001087243 RCV001563786 RCV001376275 RCV003888637
NM_001122769.3(LCA5):c.2026G>T (p.Asp676Tyr)	SNV Germline	Chr6:79487072	Conflicting classifications of pathogenicity	Condition: not provided Leber congenital amaurosis Leber congenital amaurosis 5	Criteria Provided Conflicting Classifications	CA248276	rs_143582502	4 SubmittersRCV000180711 RCV001272068 RCV001335589
NM_025114.4(CEP290):c.4243G>T (p.Glu1415Ter)	SNV Germline	Chr12:88086450	Likely pathogenic	Leber congenital amaurosis 10 Bardet-Biedl syndrome Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5	No Assertion Criteria Provided	CA347348	rs_797044604	1 SubmittersRCV000192446
NM_201253.3(CRB1):c.2227G>C (p.Val743Leu)	SNV Germline	Chr1:197427552	Likely pathogenic	Retinitis pigmentosa 12 Leber congenital amaurosis 8	Criteria Provided Multiple Submitters No Conflicts	CA279025	rs_863224862	2 SubmittersRCV000199723 RCV001580469
NM_002242.4(KCNJ13):c.458C>T (p.Thr153Ile)	SNV Germline	Chr2:232770905	Pathogenic/Likely pathogenic	Leber congenital amaurosis 16 Leber congenital amaurosis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA278972	rs_863224884	3 SubmittersRCV000197888 RCV000515663 RCV005090017
NM_000554.6(CRX):c.124G>A (p.Glu42Lys)	SNV Germline	Chr19:47836266	Conflicting classifications of pathogenicity	Leber congenital amaurosis 7 Retinal dystrophy Leber congenital amaurosis 7 Cone-rod dystrophy 2	Criteria Provided Conflicting Classifications	CA278974	rs_863224863	4 SubmittersRCV000197997 RCV001075515 RCV002517299
NM_025114.4(CEP290):c.5932C>T (p.Arg1978Ter)	SNV Germline	Chr12:88071373	Pathogenic	Joubert syndrome 5 Condition: not provided Bardet-Biedl syndrome 14 Nephronophthisis Joubert syndrome Meckel-Gruber syndrome Leber congenital amaurosis 10 Retinal dystrophy Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA277735	rs_371525247	8 SubmittersRCV000201627 RCV000598256 RCV003468924 RCV001382359 RCV004798806 RCV004816348 RCV005003554
NM_025114.4(CEP290):c.5344C>T (p.Arg1782Ter)	SNV Germline	Chr12:88079112	Pathogenic	Joubert syndrome 5 Condition: not provided Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Joubert syndrome 5 Meckel-Gruber syndrome Nephronophthisis Joubert syndrome Bardet-Biedl syndrome 14 CEP290-related disorder Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5	Criteria Provided Multiple Submitters No Conflicts	CA277810	rs_575767207	9 SubmittersRCV000201766 RCV000598977 RCV000763310 RCV001058542 RCV003468923 RCV004732784 RCV005623073 RCV005361163
NM_025114.4(CEP290):c.4882C>T (p.Gln1628Ter)	SNV Germline	Chr12:88083161	Pathogenic	Joubert syndrome 5 Cystic renal dysplasia Occipital encephalocele Blindness Global developmental delay Condition: not provided Meckel syndrome, type 4 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Joubert syndrome 5 Leber congenital amaurosis Inborn genetic diseases Joubert syndrome Meckel-Gruber syndrome Nephronophthisis CEP290-related disorder Bardet-Biedl syndrome 14 Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA277760	rs_376493409	12 SubmittersRCV000201672 RCV000626966 RCV000414892 RCV000493605 RCV000763311 RCV001271568 RCV002519581 RCV000806654 RCV004732783 RCV003462354 RCV004816347
NM_025114.4(CEP290):c.4522C>T (p.Arg1508Ter)	SNV Germline	Chr12:88084768	Pathogenic	Joubert syndrome 5 Condition: not provided Leber congenital amaurosis Nephronophthisis Joubert syndrome Meckel-Gruber syndrome Meckel syndrome, type 4 Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA277724	rs_749439750	14 SubmittersRCV000201597 RCV000521437 RCV001828040 RCV001036850 RCV003155122 RCV002250594 RCV003468926 RCV002485329 RCV004816349
NM_025114.4(CEP290):c.4393C>T (p.Arg1465Ter)	SNV Germline	Chr12:88086083	Pathogenic	Joubert syndrome 5 Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Occipital encephalocele Leber congenital amaurosis Nephronophthisis Joubert syndrome Meckel-Gruber syndrome Condition: not provided Leber congenital amaurosis 10 CEP290-related disorder Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA277705	rs_539400286	16 SubmittersRCV000201563 RCV000502726 RCV000763314 RCV001030764 RCV001002937 RCV000816913 RCV001529566 RCV001589085 RCV004732782 RCV003468919
NM_025114.4(CEP290):c.2343T>C (p.Asn781=)	SNV Germline	Chr12:88111226	Conflicting classifications of pathogenicity	Joubert syndrome 5 Retinal dystrophy Nephronophthisis Joubert syndrome Meckel-Gruber syndrome Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA277728	rs_748034744	5 SubmittersRCV000201605 RCV001074504 RCV001471584 RCV005003555 RCV004975329
NM_025114.4(CEP290):c.1623+1G>A	SNV Germline	Chr12:88118642	Pathogenic	Joubert syndrome 5 Nephronophthisis Joubert syndrome Meckel-Gruber syndrome Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA279529	rs_863225186	5 SubmittersRCV000201746 RCV001044809 RCV001808559 RCV003468922 RCV005008141
NM_000554.6(CRX):c.449C>G (p.Ser150Ter)	SNV Germline	Chr19:47839516	Pathogenic/Likely pathogenic	Benign concentric annular macular dystrophy Condition: not provided Leber congenital amaurosis 7 Cone-rod dystrophy 2	Criteria Provided Multiple Submitters No Conflicts	CA339650	rs_864309706	3 SubmittersRCV000203264 RCV004721295 RCV001208760
NM_020366.4(RPGRIP1):c.808A>G (p.Ile270Val)	SNV Germline	Chr14:21307738	Conflicting classifications of pathogenicity	Anophthalmia-microphthalmia syndrome Condition: not provided not specified Cone-rod dystrophy 13 Leber congenital amaurosis 6 Leber congenital amaurosis 6 Cone-rod dystrophy 13 RPGRIP1-related disorder	Criteria Provided Conflicting Classifications	CA071653	rs_372615343	6 SubmittersRCV000207372 RCV000384797 RCV001002218 RCV001086986 RCV001800533 RCV001800534 RCV003955239
NM_015041.3(CLUAP1):c.817C>T (p.Leu273Phe)	SNV Germline	Chr16:3523261	Pathogenic	Leber congenital amaurosis Toriello-Lacassie-Droste syndrome	Criteria Provided Single Submitter	CA358306	rs_751218423	2 SubmittersRCV000210897 RCV000210001
NM_002242.4(KCNJ13):c.158G>A (p.Trp53Ter)	SNV Germline	Chr2:232771205	Pathogenic	Leber congenital amaurosis 16	No Assertion Criteria Provided	CA358744	rs_869320631	2 SubmittersRCV000210439
NM_201253.3(CRB1):c.2714G>A (p.Arg905Gln)	SNV Germline	Chr1:197429486	Conflicting classifications of pathogenicity	Retinitis pigmentosa Pigmented paravenous retinochoroidal atrophy Leber congenital amaurosis 8 Retinal dystrophy Retinitis pigmentosa 12 Leber congenital amaurosis 8 Leber congenital amaurosis	Criteria Provided Conflicting Classifications	CA1312195	rs_114052315	5 SubmittersRCV000262643 RCV000329706 RCV000490294 RCV003888643 RCV000946241 RCV001275655
NM_025114.4(CEP290):c.251-11T>A	SNV Germline	Chr12:88139202	Conflicting classifications of pathogenicity	Condition: not provided not specified Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Joubert syndrome 5 Meckel syndrome, type 4 Senior-Loken syndrome 6 Meckel-Gruber syndrome Joubert syndrome Nephronophthisis CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6712862	rs_200666995	7 SubmittersRCV000224686 RCV000244417 RCV001109953 RCV001109955 RCV001109952 RCV001109954 RCV001109951 RCV001518146 RCV004529386
NM_201253.3(CRB1):c.2308G>A (p.Gly770Ser)	SNV Germline	Chr1:197427633	Pathogenic/Likely pathogenic	Retinal dystrophy Retinitis pigmentosa 12 Leber congenital amaurosis 8 Retinitis pigmentosa 12 Leber congenital amaurosis Leber congenital amaurosis 8 Pigmented paravenous retinochoroidal atrophy Pigmented paravenous retinochoroidal atrophy Retinitis pigmentosa 12 Leber congenital amaurosis 8	Criteria Provided Multiple Submitters No Conflicts	CA1312098	rs_767648174	11 SubmittersRCV000225453 RCV001069480 RCV001376283 RCV001833240 RCV003454681 RCV003454682 RCV005008180
NM_201253.3(CRB1):c.2833G>A (p.Gly945Arg)	SNV Germline	Chr1:197429605	Conflicting classifications of pathogenicity	Retinal dystrophy Retinitis pigmentosa 12 Leber congenital amaurosis 8	Criteria Provided Conflicting Classifications	CA10581629	rs_749746650	3 SubmittersRCV000225460 RCV002516254
NM_201253.3(CRB1):c.2869C>T (p.Gln957Ter)	SNV Germline	Chr1:197434732	Pathogenic	Retinal dystrophy Retinitis pigmentosa 12 Leber congenital amaurosis 8	Criteria Provided Single Submitter	CA10581631	rs_878853371	2 SubmittersRCV000225597 RCV001854803
NM_201253.3(CRB1):c.3017C>T (p.Ser1006Phe)	SNV Germline	Chr1:197434880	Pathogenic/Likely pathogenic	Retinal dystrophy Retinitis pigmentosa 12 Leber congenital amaurosis 8 Pigmented paravenous retinochoroidal atrophy Retinitis pigmentosa 12 Leber congenital amaurosis 8	Criteria Provided Multiple Submitters No Conflicts	CA10581632	rs_878853367	4 SubmittersRCV000225544 RCV002519764 RCV005008179
NM_000329.3(RPE65):c.726-2A>C	SNV Germline	Chr1:68439325	Pathogenic	Retinal dystrophy Retinitis pigmentosa 20 Leber congenital amaurosis 2 RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA10581648	rs_878853372	3 SubmittersRCV000225374 RCV003765455 RCV005252828
NM_025114.4(CEP290):c.1781T>A (p.Leu594Ter)	SNV Germline	Chr12:88117076	Pathogenic	Retinal dystrophy Condition: not provided Leber congenital amaurosis Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 Bardet-Biedl syndrome 14 CEP290-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA6712475	rs_371496675	7 SubmittersRCV000225634 RCV000522611 RCV001274126 RCV001389936 RCV002500754 RCV003463626 RCV004532829
NM_025114.4(CEP290):c.297+1G>T	SNV Germline	Chr12:88139144	Pathogenic/Likely pathogenic	Retinal dystrophy Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Condition: not provided Leber congenital amaurosis Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5	Criteria Provided Multiple Submitters No Conflicts	CA10581686	rs_878853360	7 SubmittersRCV000225517 RCV001223284 RCV001782716 RCV001833239 RCV003469116 RCV003155133 RCV005003571
NM_020366.4(RPGRIP1):c.1303A>T (p.Lys435Ter)	SNV Germline	Chr14:21317847	Pathogenic	Retinal dystrophy Leber congenital amaurosis 6	Criteria Provided Single Submitter	CA10581688	rs_878853392	2 SubmittersRCV000225543 RCV001198056
NM_020366.4(RPGRIP1):c.2314C>T (p.Gln772Ter)	SNV Germline	Chr14:21325330	Pathogenic	Retinal dystrophy Cone-rod dystrophy 13 Leber congenital amaurosis 6	Criteria Provided Single Submitter	CA7089216	rs_577932201	2 SubmittersRCV000225680 RCV002516255
NM_152443.3(RDH12):c.848+2T>C	SNV Germline	Chr14:67729382	Pathogenic/Likely pathogenic	Retinal dystrophy Leber congenital amaurosis 13 Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA10581695	rs_878853338	5 SubmittersRCV000225656 RCV001206727 RCV001833238
NM_152443.3(RDH12):c.910T>C (p.Trp304Arg)	SNV Germline	Chr14:67733807	Pathogenic/Likely pathogenic	Retinal dystrophy Leber congenital amaurosis 13 Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA10581696	rs_878853339	5 SubmittersRCV000225474 RCV001053170 RCV001828100
NM_000180.4(GUCY2D):c.380C>T (p.Pro127Leu)	SNV Germline	Chr17:8003427	Conflicting classifications of pathogenicity	Retinal dystrophy Leber congenital amaurosis 1 Cone-rod dystrophy 6	Criteria Provided Conflicting Classifications	CA10581703	rs_878853343	3 SubmittersRCV000225589 RCV002516252
NM_025114.4(CEP290):c.6870T>C (p.Asn2290=)	SNV Germline	Chr12:88055666	Conflicting classifications of pathogenicity	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Joubert syndrome 5 Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Meckel syndrome, type 4 CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6711411	rs_572443869	3 SubmittersRCV000226860 RCV001109945 RCV001109947 RCV001109948 RCV001109944 RCV001109946 RCV004725118
NM_025114.4(CEP290):c.4938A>G (p.Lys1646=)	SNV Germline	Chr12:88083105	Conflicting classifications of pathogenicity	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 Leber congenital amaurosis CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6711827	rs_371582975	4 SubmittersRCV000225844 RCV000763863 RCV001273065 RCV004529415
NM_025114.4(CEP290):c.2551G>A (p.Val851Ile)	SNV Germline	Chr12:88107031	Conflicting classifications of pathogenicity	Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 Leber congenital amaurosis Condition: not provided Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 Inborn genetic diseases CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6712316	rs_764963626	8 SubmittersRCV000228050 RCV000763866 RCV001271583 RCV002274949 RCV003227727 RCV002518359 RCV004529413
NM_025114.4(CEP290):c.5506A>G (p.Ile1836Val)	SNV Germline	Chr12:88077777	Conflicting classifications of pathogenicity	not specified Meckel syndrome, type 4 Condition: not provided Senior-Loken syndrome 6 Nephronophthisis Meckel-Gruber syndrome Joubert syndrome Bardet-Biedl syndrome 14 Joubert syndrome 5 Leber congenital amaurosis 10 Leber congenital amaurosis	Criteria Provided Conflicting Classifications	CA6711707	rs_11104729	11 SubmittersRCV000246283 RCV000391752 RCV000514061 RCV000402056 RCV001084053 RCV000297940 RCV000338834 RCV000342377 RCV001828148
NM_025114.4(CEP290):c.4806G>A (p.Thr1602=)	SNV Germline	Chr12:88083853	Conflicting classifications of pathogenicity	not specified Meckel syndrome, type 4 Joubert syndrome 5 Nephronophthisis Meckel-Gruber syndrome Joubert syndrome Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Leber congenital amaurosis Condition: not provided	Criteria Provided Conflicting Classifications	CA6711863	rs_201614215	8 SubmittersRCV000243671 RCV000270848 RCV000383188 RCV000860688 RCV000283968 RCV000328558 RCV000338967 RCV001833282 RCV001546981
NM_025114.4(CEP290):c.1669C>T (p.Arg557Cys)	SNV Germline	Chr12:88118525	Conflicting classifications of pathogenicity	not specified Nephronophthisis Joubert syndrome Meckel-Gruber syndrome Joubert syndrome 5 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Meckel syndrome, type 4 Joubert syndrome 5 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6712494	rs_561018129	5 SubmittersRCV000249364 RCV001241555 RCV001195819 RCV005008220 RCV005318354
NM_025114.4(CEP290):c.1558T>C (p.Phe520Leu)	SNV Germline	Chr12:88118708	Conflicting classifications of pathogenicity	not specified Nephronophthisis Joubert syndrome Meckel-Gruber syndrome Meckel syndrome, type 4 Senior-Loken syndrome 6 Condition: not provided Bardet-Biedl syndrome 14 Joubert syndrome 5 Leber congenital amaurosis 10	Criteria Provided Conflicting Classifications	CA6712524	rs_147371999	8 SubmittersRCV000254461 RCV001086907 RCV001109701 RCV001109703 RCV001572697 RCV001113718 RCV001113719 RCV001109702
NM_025114.4(CEP290):c.1298A>G (p.Asp433Gly)	SNV Germline	Chr12:88121058	Conflicting classifications of pathogenicity	not specified Nephronophthisis Meckel-Gruber syndrome Joubert syndrome Condition: not provided Leber congenital amaurosis 10 Leber congenital amaurosis Bardet-Biedl syndrome 14 Joubert syndrome 5 Senior-Loken syndrome 6 Meckel syndrome, type 4	Criteria Provided Conflicting Classifications	CA6712583	rs_200211587	9 SubmittersRCV000244107 RCV000860381 RCV001311004 RCV001113799 RCV001275038 RCV001109774 RCV001113800 RCV001113801 RCV001113802
NM_020366.4(RPGRIP1):c.1920C>T (p.Ala640=)	SNV Germline	Chr14:21324775	Conflicting classifications of pathogenicity	not specified Cone-rod dystrophy 13 Leber congenital amaurosis 6 Leber congenital amaurosis 6 Cone-rod dystrophy 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA7089121	rs_368434311	5 SubmittersRCV000246883 RCV000388083 RCV000333550 RCV000952570 RCV003401208
NM_014336.5(AIPL1):c.-17C>A	SNV Germline	Chr17:6435121	Conflicting classifications of pathogenicity	not specified Retinitis Pigmentosa, Recessive Retinitis Pigmentosa, Dominant Leber congenital amaurosis 4	Criteria Provided Conflicting Classifications	CA8328687	rs_188246267	2 SubmittersRCV000251131 RCV000296424 RCV000325640 RCV000382676
NM_201253.3(CRB1):c.584G>T (p.Cys195Phe)	SNV Germline	Chr1:197328935	Pathogenic/Likely pathogenic	Condition: not provided Macular dystrophy Retinal dystrophy Leber congenital amaurosis 8 Retinitis pigmentosa 12 Retinitis pigmentosa 12 Pigmented paravenous retinochoroidal atrophy Leber congenital amaurosis 8 Pigmented paravenous retinochoroidal atrophy Retinitis pigmentosa 12 Leber congenital amaurosis 8	Criteria Provided Multiple Submitters No Conflicts	CA1311659	rs_764256655	9 SubmittersRCV000255600 RCV000656138 RCV001075823 RCV001040337 RCV001542640 RCV003454774 RCV002500956 RCV003454773
NM_022787.4(NMNAT1):c.507G>A (p.Trp169Ter)	SNV Germline	Chr1:9982368	Pathogenic	Leber congenital amaurosis 9 Condition: not provided NMNAT1-related disorder Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA579271	rs_371526758	6 SubmittersRCV000030768 RCV000255071 RCV004757984 RCV004649113
NM_201253.3(CRB1):c.1043G>A (p.Cys348Tyr)	SNV Germline	Chr1:197356885	Likely pathogenic	Leber congenital amaurosis 8	No Assertion Criteria Provided	CA10588916	rs_886039871	1 SubmittersRCV000256380
NM_025114.4(CEP290):c.1936C>T (p.Gln646Ter)	SNV Germline	Chr12:88114536	Pathogenic	Condition: not provided Nephronophthisis Joubert syndrome Meckel-Gruber syndrome Retinal dystrophy Joubert syndrome 5 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA6712427	rs_780225183	8 SubmittersRCV000313260 RCV000636991 RCV001075417 RCV001199213 RCV002500965 RCV001833301 RCV003463734
NM_020366.4(RPGRIP1):c.2668C>T (p.Arg890Ter)	SNV Germline	Chr14:21326131	Pathogenic	Condition: not provided Leber congenital amaurosis 6 Cone-rod dystrophy 13	Criteria Provided Multiple Submitters No Conflicts	CA7089317	rs_780587095	2 SubmittersRCV000298896 RCV002518810
NM_025114.4(CEP290):c.1092T>G (p.Ile364Met)	SNV Germline	Chr12:88125343	Conflicting classifications of pathogenicity	Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Joubert syndrome 5 Senior-Loken syndrome 6 Nephronophthisis Meckel-Gruber syndrome Joubert syndrome Meckel syndrome, type 4 CEP290-related disorder Inborn genetic diseases Leber congenital amaurosis not specified Condition: not provided Kidney disorder Stuve-Wiedemann syndrome 2 Retinitis pigmentosa	Criteria Provided Conflicting Classifications	CA6712623	rs_201988582	14 SubmittersRCV000280320 RCV000342452 RCV000396707 RCV000320212 RCV000637003 RCV000374721 RCV000714822 RCV001265795 RCV001275039 RCV000354111 RCV001580478 RCV002294212 RCV003319345 RCV001589313
NM_025114.4(CEP290):c.2722C>T (p.Arg908Ter)	SNV Germline	Chr12:88106770	Pathogenic	Condition: not provided Cone-rod dystrophy Joubert syndrome 1 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Meckel syndrome, type 4 Joubert syndrome 5 Nephronophthisis Joubert syndrome Meckel-Gruber syndrome Joubert syndrome 5 Bardet-Biedl syndrome 14 CEP290-related disorder Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA10603872	rs_886042153	11 SubmittersRCV000382757 RCV000787815 RCV000988885 RCV002479997 RCV001380938 RCV003447521 RCV003469220 RCV002222465 RCV004816477
NM_000329.3(RPE65):c.331C>T (p.Pro111Ser)	SNV Germline	Chr1:68444798	Pathogenic	Condition: not provided Leber congenital amaurosis 2 Leber congenital amaurosis 2 Retinitis pigmentosa 20 RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA10603953	rs_886042220	4 SubmittersRCV000288725 RCV004567825 RCV002519096 RCV003765588
NM_025114.4(CEP290):c.181-2A>G	SNV Germline	Chr12:88139566	Pathogenic/Likely pathogenic	Condition: not provided Nephronophthisis Joubert syndrome Meckel-Gruber syndrome Bardet-Biedl syndrome 14 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Meckel syndrome, type 4 Joubert syndrome 5	Criteria Provided Multiple Submitters No Conflicts	CA10604124	rs_886042359	4 SubmittersRCV000262913 RCV001859558 RCV003469222 RCV005008234
NM_025114.4(CEP290):c.5803G>T (p.Glu1935Ter)	SNV Germline	Chr12:88071833	Pathogenic/Likely pathogenic	Leber congenital amaurosis Bardet-Biedl syndrome 14 CEP290-related disorder Nephronophthisis Meckel-Gruber syndrome Joubert syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA10604125	rs_886042360	6 SubmittersRCV001199656 RCV003469223 RCV004732816 RCV001384490 RCV000593831
NM_025114.4(CEP290):c.4476A>G (p.Glu1492=)	SNV Germline	Chr12:88084814	Conflicting classifications of pathogenicity	not specified Nephronophthisis Joubert syndrome Meckel-Gruber syndrome Bardet-Biedl syndrome 14 Joubert syndrome 5 Meckel syndrome, type 4 Senior-Loken syndrome 6 Condition: not provided Leber congenital amaurosis 10	Criteria Provided Conflicting Classifications	CA6711925	rs_181248369	4 SubmittersRCV000276958 RCV000863632 RCV001113145 RCV001113143 RCV001114512 RCV001114513 RCV001697702 RCV001113144
NM_020366.4(RPGRIP1):c.1753C>T (p.Pro585Ser)	SNV Germline	Chr14:21321995	Conflicting classifications of pathogenicity	Condition: not provided Leber congenital amaurosis 6 Cone-rod dystrophy 13 not specified Leber congenital amaurosis 6 Cone-rod dystrophy 13 Retinal dystrophy	Criteria Provided Conflicting Classifications	CA7089060	rs_147586703	11 SubmittersRCV000325954 RCV001111169 RCV001800646 RCV002282101 RCV000763912 RCV004816491
NM_001164688.2(RD3):c.168C>T (p.Thr56=)	SNV Germline	Chr1:211481248	Conflicting classifications of pathogenicity	Condition: not provided Leber congenital amaurosis 12	Criteria Provided Conflicting Classifications	CA1381137	rs_146420268	2 SubmittersRCV000325586 RCV001085803
NM_001164688.2(RD3):c.498C>T (p.Ile166=)	SNV Germline	Chr1:211479126	Conflicting classifications of pathogenicity	Condition: not provided Leber congenital amaurosis 12 RD3-related disorder	Criteria Provided Conflicting Classifications	CA1381055	rs_779584830	3 SubmittersRCV000302722 RCV001446128 RCV003955457
NM_020366.4(RPGRIP1):c.2284C>T (p.Leu762=)	SNV Germline	Chr14:21325300	Conflicting classifications of pathogenicity	Cone-rod dystrophy 13 not specified Leber congenital amaurosis 6 Cone-rod dystrophy 13 Leber congenital amaurosis 6 Retinal dystrophy RPGRIP1-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA7089204	rs_145896974	11 SubmittersRCV000339400 RCV000303580 RCV000641902 RCV000396376 RCV004816497 RCV003920089 RCV001699333
NM_020366.4(RPGRIP1):c.542C>G (p.Ala181Gly)	SNV Germline	Chr14:21302539	Conflicting classifications of pathogenicity	not specified Cone-rod dystrophy 13 Leber congenital amaurosis 6 Cone-rod dystrophy 13 Leber congenital amaurosis 6 RPGRIP1-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7088688	rs_186266220	6 SubmittersRCV000276671 RCV000322396 RCV000358467 RCV000959229 RCV003940004 RCV005268582
NM_152443.3(RDH12):c.869T>G (p.Val290Gly)	SNV Germline	Chr14:67733766	Conflicting classifications of pathogenicity	Condition: not provided Leber congenital amaurosis Leber congenital amaurosis 13 Retinal dystrophy	Criteria Provided Conflicting Classifications	CA7238874	rs_61740289	7 SubmittersRCV000293076 RCV001277208 RCV001041798 RCV001075352
NM_201253.3(CRB1):c.1182C>A (p.Cys394Ter)	SNV Germline	Chr1:197421010	Pathogenic	Condition: not provided Retinitis pigmentosa Leber congenital amaurosis 8 Retinitis pigmentosa 12 Retinitis pigmentosa 12 Leber congenital amaurosis 8	Criteria Provided Multiple Submitters No Conflicts	CA10605094	rs_115352681	6 SubmittersRCV000322587 RCV000787574 RCV001202291 RCV003454792 RCV003454793
NM_001023570.4(IQCB1):c.214C>T (p.Arg72Ter)	SNV Germline	Chr3:121828519	Pathogenic	Condition: not provided Leber congenital amaurosis Nephronophthisis Senior-Loken syndrome 5	Criteria Provided Multiple Submitters No Conflicts	CA2567498	rs_201405662	7 SubmittersRCV000329866 RCV000504702 RCV001384418 RCV001535872
NM_201253.3(CRB1):c.2809G>A (p.Ala937Thr)	SNV Germline	Chr1:197429581	Conflicting classifications of pathogenicity	Condition: not provided Leber congenital amaurosis 8 Retinitis pigmentosa 12 Leber congenital amaurosis Retinal dystrophy	Criteria Provided Conflicting Classifications	CA1312210	rs_114630940	4 SubmittersRCV000376545 RCV001080703 RCV001275656 RCV003888680
NM_025114.4(CEP290):c.4437+1G>A	SNV Germline	Chr12:88086038	Pathogenic/Likely pathogenic	Condition: not provided CEP290-related disorder Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA6711940	rs_760915898	9 SubmittersRCV000498064 RCV000779117 RCV000473837 RCV000763313 RCV001271571
NM_201253.3(CRB1):c.3878+10A>G	SNV Germline	Chr1:197438685	Conflicting classifications of pathogenicity	Condition: not provided Leber congenital amaurosis 8 Retinitis pigmentosa 12	Criteria Provided Conflicting Classifications	CA10605364	rs_886043311	2 SubmittersRCV000325162 RCV001395903
NM_001001557.4(GDF6):c.725C>G (p.Ala242Gly)	SNV Germline	Chr8:96145206	Conflicting classifications of pathogenicity	Condition: not provided Klippel-Feil syndrome 1, autosomal dominant Leber congenital amaurosis 17 Microphthalmia, isolated, with coloboma 6 Isolated microphthalmia 4 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10605452	rs_886043381	5 SubmittersRCV000344156 RCV001239678 RCV004021200
NM_018418.5(SPATA7):c.757C>T (p.Leu253=)	SNV Germline	Chr14:88426616	Conflicting classifications of pathogenicity	Condition: not provided Leber congenital amaurosis 3	Criteria Provided Conflicting Classifications	CA7298586	rs_138993523	2 SubmittersRCV000314426 RCV001088582
NM_003322.6(TULP1):c.846G>A (p.Pro282=)	SNV Germline	Chr6:35506156	Conflicting classifications of pathogenicity	Retinitis pigmentosa Condition: not provided Leber congenital amaurosis 15 TULP1-related disorder	Criteria Provided Conflicting Classifications	CA3772766	rs_149980694	4 SubmittersRCV000271258 RCV000274503 RCV000302940 RCV004734937
NM_001122769.3(LCA5):c.1062C>G (p.Tyr354Ter)	SNV Germline	Chr6:79491624	Pathogenic	Condition: not provided Leber congenital amaurosis 5	Criteria Provided Multiple Submitters No Conflicts	CA10605770	rs_183261547	3 SubmittersRCV000373471 RCV003463767
NM_201253.3(CRB1):c.1470C>T (p.Gly490=)	SNV Germline	Chr1:197421298	Conflicting classifications of pathogenicity	Condition: not provided Leber congenital amaurosis 8 Retinitis pigmentosa 12 Leber congenital amaurosis	Criteria Provided Conflicting Classifications	CA1311926	rs_35193230	4 SubmittersRCV000398958 RCV001083735 RCV001271898
NM_001164688.2(RD3):c.135G>A (p.Arg45=)	SNV Germline	Chr1:211481281	Conflicting classifications of pathogenicity	Condition: not provided Leber congenital amaurosis 12	Criteria Provided Conflicting Classifications	CA1381147	rs_374821619	2 SubmittersRCV000280498 RCV002059228
NM_001122769.3(LCA5):c.1215T>G (p.Val405=)	SNV Germline	Chr6:79489100	Conflicting classifications of pathogenicity	Condition: not provided Leber congenital amaurosis	Criteria Provided Conflicting Classifications	CA3900885	rs_41270545	3 SubmittersRCV000296587 RCV001271950
NM_018418.5(SPATA7):c.1446C>T (p.Asn482=)	SNV Germline	Chr14:88438068	Conflicting classifications of pathogenicity	Condition: not provided Leber congenital amaurosis 3 SPATA7-related disorder	Criteria Provided Conflicting Classifications	CA7298813	rs_766017194	3 SubmittersRCV000294109 RCV001078728 RCV004535427
NM_201253.3(CRB1):c.2103C>G (p.Pro701=)	SNV Germline	Chr1:197421931	Conflicting classifications of pathogenicity	Leber congenital amaurosis 8 Pigmented paravenous retinochoroidal atrophy Condition: not provided Retinitis pigmentosa Leber congenital amaurosis Leber congenital amaurosis 8 Retinitis pigmentosa 12	Criteria Provided Conflicting Classifications	CA1312032	rs_144436610	7 SubmittersRCV000313740 RCV000363592 RCV000585260 RCV000407701 RCV001833395 RCV001082136
NM_201253.3(CRB1):c.2272A>T (p.Ser758Cys)	SNV Germline	Chr1:197427597	Pathogenic/Likely pathogenic	Condition: not provided Leber congenital amaurosis 8 Retinitis pigmentosa 12 Pigmented paravenous retinochoroidal atrophy Leber congenital amaurosis 8 Retinitis pigmentosa 12 Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA1312087	rs_201700675	4 SubmittersRCV000371225 RCV001067120 RCV005008261 RCV001828271
NM_025114.4(CEP290):c.6645+1G>A	SNV Germline	Chr12:88059897	Conflicting classifications of pathogenicity	Joubert syndrome 5 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Bardet-Biedl syndrome 14 Joubert syndrome 5 Senior-Loken syndrome 6 Meckel syndrome, type 4 Condition: not provided Nephronophthisis Meckel-Gruber syndrome Joubert syndrome Inborn genetic diseases Bardet-Biedl syndrome 14 CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6711459	rs_201218801	11 SubmittersRCV002467720 RCV005355616 RCV001331377 RCV000454208 RCV001833396 RCV000497486 RCV000801486 RCV002522012 RCV003463776 RCV004537606
NM_025114.4(CEP290):c.6558T>G (p.His2186Gln)	SNV Germline	Chr12:88059985	Conflicting classifications of pathogenicity	Condition: not provided Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Leber congenital amaurosis CEP290-related disorder Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Meckel syndrome, type 4 Joubert syndrome 5 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6711473	rs_772603458	7 SubmittersRCV000307481 RCV001368383 RCV001828277 RCV004537615 RCV005003616 RCV005305997
NM_201253.3(CRB1):c.1172-15T>A	SNV Germline	Chr1:197420985	Conflicting classifications of pathogenicity	Pigmented paravenous retinochoroidal atrophy Leber congenital amaurosis Leber congenital amaurosis 8 Retinitis pigmentosa 12 Retinitis Pigmentosa, Recessive	Criteria Provided Conflicting Classifications	CA1311873	rs_375141011	2 SubmittersRCV000304813 RCV000336321 RCV001491386 RCV000401040
NM_201253.3(CRB1):c.2419C>T (p.Leu807=)	SNV Germline	Chr1:197427744	Conflicting classifications of pathogenicity	Retinitis pigmentosa Pigmented paravenous retinochoroidal atrophy Leber congenital amaurosis 8 Retinitis pigmentosa 12 Leber congenital amaurosis 8	Criteria Provided Conflicting Classifications	CA1312121	rs_371089348	2 SubmittersRCV000306210 RCV000391747 RCV000951208 RCV000359746
NM_201253.3(CRB1):c.3878+15A>T	SNV Germline	Chr1:197438690	Conflicting classifications of pathogenicity	Leber congenital amaurosis 8 Retinitis pigmentosa Pigmented paravenous retinochoroidal atrophy Leber congenital amaurosis 8 Retinitis pigmentosa 12	Criteria Provided Conflicting Classifications	CA1312424	rs_200217112	2 SubmittersRCV000279430 RCV000336749 RCV000400725 RCV001444410
NM_201253.3(CRB1):c.*393T>C	SNV Germline	Chr1:197478272	Conflicting classifications of pathogenicity	Leber congenital amaurosis 8 Pigmented paravenous retinochoroidal atrophy Retinitis pigmentosa	Criteria Provided Conflicting Classifications	CA10608732	rs_147966959	1 SubmittersRCV000288696 RCV000351854 RCV000393295
NM_201253.3(CRB1):c.1172-12A>G	SNV Germline	Chr1:197420988	Conflicting classifications of pathogenicity	Retinitis pigmentosa Leber congenital amaurosis 8 Pigmented paravenous retinochoroidal atrophy Leber congenital amaurosis 8 Retinitis pigmentosa 12	Criteria Provided Conflicting Classifications	CA1311875	rs_146175509	2 SubmittersRCV000301371 RCV000355365 RCV000402144 RCV002519468
NM_201253.3(CRB1):c.2225T>C (p.Phe742Ser)	SNV Germline	Chr1:197427550	Conflicting classifications of pathogenicity	Leber congenital amaurosis 8 Leber congenital amaurosis Retinitis pigmentosa Leber congenital amaurosis 8 Retinitis pigmentosa 12	Criteria Provided Conflicting Classifications	CA1312077	rs_140494140	3 SubmittersRCV000266368 RCV001828286 RCV000360994 RCV001242513
NM_201253.3(CRB1):c.2230C>A (p.Arg744=)	SNV Germline	Chr1:197427555	Conflicting classifications of pathogenicity	Retinitis pigmentosa Leber congenital amaurosis 8 not specified Pigmented paravenous retinochoroidal atrophy Retinal dystrophy Leber congenital amaurosis 8 Retinitis pigmentosa 12 Condition: not provided	Criteria Provided Conflicting Classifications	CA1312078	rs_150412614	6 SubmittersRCV000281831 RCV000317013 RCV000418233 RCV000371666 RCV001073755 RCV000945740 RCV002292503
NM_201253.3(CRB1):c.2843-13C>T	SNV Germline	Chr1:197434693	Conflicting classifications of pathogenicity	Pigmented paravenous retinochoroidal atrophy Leber congenital amaurosis 8 Retinitis pigmentosa Leber congenital amaurosis 8 Retinitis pigmentosa 12	Criteria Provided Conflicting Classifications	CA1312233	rs_199808176	2 SubmittersRCV000291108 RCV000346171 RCV000380917 RCV001517111
NM_201253.3(CRB1):c.3228T>C (p.Asp1076=)	SNV Germline	Chr1:197435091	Conflicting classifications of pathogenicity	Leber congenital amaurosis 8 Retinitis pigmentosa Pigmented paravenous retinochoroidal atrophy Leber congenital amaurosis 8 Retinitis pigmentosa 12 Retinal dystrophy	Criteria Provided Conflicting Classifications	CA1312297	rs_780576185	3 SubmittersRCV000274993 RCV000313687 RCV000370799 RCV000952421 RCV003888698
NM_201253.3(CRB1):c.3397G>A (p.Val1133Met)	SNV Germline	Chr1:197435260	Conflicting classifications of pathogenicity	Leber congenital amaurosis 8 Hereditary macular dystrophy Retinitis pigmentosa Pigmented paravenous retinochoroidal atrophy Leber congenital amaurosis 8 Retinitis pigmentosa 12	Criteria Provided Conflicting Classifications	CA1312328	rs_116246250	3 SubmittersRCV000269228 RCV005355620 RCV000326351 RCV000383308 RCV000945327
NM_201253.3(CRB1):c.664G>A (p.Glu222Lys)	SNV Germline	Chr1:197344292	Conflicting classifications of pathogenicity	Leber congenital amaurosis 8 Retinitis pigmentosa Retinal dystrophy Pigmented paravenous retinochoroidal atrophy Leber congenital amaurosis Retinitis pigmentosa 12 Leber congenital amaurosis 8 Retinitis pigmentosa 12 CRB1-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA1311688	rs_114846212	8 SubmittersRCV000285066 RCV000347681 RCV003888696 RCV000384124 RCV001271894 RCV003454863 RCV000945440 RCV004537638 RCV004567846
NM_201253.3(CRB1):c.1752C>T (p.Asp584=)	SNV Germline	Chr1:197421580	Conflicting classifications of pathogenicity	Leber congenital amaurosis 8 Pigmented paravenous retinochoroidal atrophy Leber congenital amaurosis 8 Retinitis pigmentosa 12 Retinitis pigmentosa Leber congenital amaurosis Retinal dystrophy	Criteria Provided Conflicting Classifications	CA1311978	rs_750442312	4 SubmittersRCV000334922 RCV000400239 RCV000893286 RCV000279892 RCV001833418 RCV003888697
NM_201253.3(CRB1):c.2010T>C (p.Cys670=)	SNV Germline	Chr1:197421838	Conflicting classifications of pathogenicity	Leber congenital amaurosis 8 Leber congenital amaurosis 8 Retinitis pigmentosa 12 Retinitis pigmentosa Pigmented paravenous retinochoroidal atrophy	Criteria Provided Conflicting Classifications	CA1312017	rs_201949837	2 SubmittersRCV000293851 RCV001435530 RCV000348791 RCV000401010
NM_201253.3(CRB1):c.2307C>T (p.Arg769=)	SNV Germline	Chr1:197427632	Conflicting classifications of pathogenicity	Pigmented paravenous retinochoroidal atrophy Retinitis pigmentosa Leber congenital amaurosis 8 not specified Leber congenital amaurosis 8 Retinitis pigmentosa 12 Condition: not provided Leber congenital amaurosis	Criteria Provided Conflicting Classifications	CA1312096	rs_151104285	8 SubmittersRCV000289291 RCV000352667 RCV000398025 RCV000423844 RCV000878020 RCV001699429 RCV001828287
NM_201253.3(CRB1):c.3695A>G (p.His1232Arg)	SNV Germline	Chr1:197435558	Conflicting classifications of pathogenicity	Pigmented paravenous retinochoroidal atrophy Leber congenital amaurosis 8 Retinitis pigmentosa Leber congenital amaurosis 8 Retinitis pigmentosa 12 Retinal dystrophy Hereditary macular dystrophy	Criteria Provided Conflicting Classifications	CA1312377	rs_142090517	4 SubmittersRCV000272687 RCV000320691 RCV000377313 RCV000964610 RCV003888699 RCV005355621
NM_201253.3(CRB1):c.3750-3T>C	SNV Germline	Chr1:197438544	Conflicting classifications of pathogenicity	Retinitis pigmentosa Leber congenital amaurosis 8 Pigmented paravenous retinochoroidal atrophy Condition: not provided Leber congenital amaurosis 8 Retinitis pigmentosa 12	Criteria Provided Conflicting Classifications	CA1312396	rs_187937543	3 SubmittersRCV000285227 RCV000371471 RCV000342421 RCV000994219 RCV001239382
NM_001164688.2(RD3):c.468C>T (p.Arg156=)	SNV Germline	Chr1:211479156	Conflicting classifications of pathogenicity	Leber congenital amaurosis 12	Criteria Provided Conflicting Classifications	CA1381061	rs_148189077	2 SubmittersRCV000355876
NM_000329.3(RPE65):c.1243+10T>C	SNV Germline	Chr1:68431461	Conflicting classifications of pathogenicity	Retinitis Pigmentosa, Recessive Leber congenital amaurosis Retinitis pigmentosa 20 Leber congenital amaurosis 2 Retinitis pigmentosa 20	Criteria Provided Conflicting Classifications	CA902243	rs_548537552	3 SubmittersRCV000287911 RCV000352172 RCV000923552 RCV001196851
NM_000329.3(RPE65):c.267C>T (p.Tyr89=)	SNV Germline	Chr1:68444862	Conflicting classifications of pathogenicity	Retinitis pigmentosa Leber congenital amaurosis 2 Retinitis pigmentosa 20 Leber congenital amaurosis 2	Criteria Provided Conflicting Classifications	CA902554	rs_372620785	2 SubmittersRCV000271691 RCV000384862 RCV001419413
NM_000329.3(RPE65):c.683A>C (p.Gln228Pro)	SNV Germline	Chr1:68439603	Conflicting classifications of pathogenicity	Retinitis pigmentosa Leber congenital amaurosis 2 Retinal dystrophy	Criteria Provided Conflicting Classifications	CA10611418	rs_886046510	3 SubmittersRCV000265981 RCV000321010 RCV003888702
NM_002242.4(KCNJ13):c.474G>A (p.Ala158=)	SNV Germline	Chr2:232768800	Conflicting classifications of pathogenicity	Leber congenital amaurosis 16 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA2170027	rs_769501717	3 SubmittersRCV000395001 RCV001465808 RCV005582303
NM_004744.5(LRAT):c.258G>A (p.Gly86=)	SNV Germline	Chr4:154744584	Conflicting classifications of pathogenicity	Leber congenital amaurosis 14 Leber congenital amaurosis Retinitis pigmentosa Condition: not provided	Criteria Provided Conflicting Classifications	CA10617244	rs_768389044	2 SubmittersRCV000290030 RCV000348458 RCV000384403 RCV005090562
NM_004744.5(LRAT):c.*2529C>T	SNV Germline	Chr4:154751665	Conflicting classifications of pathogenicity	Leber congenital amaurosis Retinitis pigmentosa Retinal dystrophy	Criteria Provided Conflicting Classifications	CA10617259	rs_185391295	1 SubmittersRCV000297399 RCV000335951 RCV000407189
NM_004744.5(LRAT):c.*98C>T	SNV Germline	Chr4:154749234	Conflicting classifications of pathogenicity	Leber congenital amaurosis 14 Retinitis pigmentosa Leber congenital amaurosis Rod-cone dystrophy	Criteria Provided Conflicting Classifications	CA10620306	rs_529360609	2 SubmittersRCV000277933 RCV000333107 RCV000354005 RCV001090045
NM_001122769.3(LCA5):c.-398G>C	SNV Germline	Chr6:79537371	Conflicting classifications of pathogenicity	Leber congenital amaurosis 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA10622755	rs_370115829	2 SubmittersRCV000377966 RCV002512086
NM_000883.4(IMPDH1):c.1338C>T (p.Ile446=)	SNV Germline	Chr7:128395198	Conflicting classifications of pathogenicity	Retinitis pigmentosa Leber congenital amaurosis 11 Condition: not provided	Criteria Provided Conflicting Classifications	CA4470863	rs_199623010	2 SubmittersRCV000316639 RCV000376000 RCV000949146
NM_000883.4(IMPDH1):c.769A>G (p.Thr257Ala)	SNV Germline	Chr7:128400350	Conflicting classifications of pathogenicity	Leber congenital amaurosis 11 Retinitis pigmentosa Condition: not provided Inborn genetic diseases IMPDH1-related disorder	Criteria Provided Conflicting Classifications	CA4471065	rs_144659635	7 SubmittersRCV000287544 RCV000347099 RCV000521919 RCV003168555 RCV004544684
NM_003322.6(TULP1):c.1341G>A (p.Leu447=)	SNV Germline	Chr6:35500135	Conflicting classifications of pathogenicity	Retinitis Pigmentosa, Recessive Leber congenital amaurosis Condition: not provided	Criteria Provided Conflicting Classifications	CA3772568	rs_61734562	2 SubmittersRCV000350627 RCV000398421 RCV000945421
NM_003322.6(TULP1):c.499+12G>C	SNV Germline	Chr6:35510849	Conflicting classifications of pathogenicity	Leber congenital amaurosis 15 Retinitis pigmentosa Condition: not provided	Criteria Provided Conflicting Classifications	CA3772909	rs_185636479	2 SubmittersRCV000289767 RCV000344699 RCV001516160
NM_003322.6(TULP1):c.249G>A (p.Ala83=)	SNV Germline	Chr6:35511748	Conflicting classifications of pathogenicity	Retinitis pigmentosa Leber congenital amaurosis 15 Condition: not provided	Criteria Provided Conflicting Classifications	CA3772980	rs_377105125	2 SubmittersRCV000305203 RCV000359869 RCV000945530
NM_001122769.3(LCA5):c.1497A>G (p.Leu499=)	SNV Germline	Chr6:79487601	Conflicting classifications of pathogenicity	Leber congenital amaurosis 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA3900819	rs_199557499	2 SubmittersRCV000388230 RCV001471048
NM_001122769.3(LCA5):c.1260G>A (p.Lys420=)	SNV Germline	Chr6:79487838	Conflicting classifications of pathogenicity	Leber congenital amaurosis 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA3900857	rs_141642284	3 SubmittersRCV000296412 RCV000879434
NM_001122769.3(LCA5):c.1080A>G (p.Glu360=)	SNV Germline	Chr6:79491606	Conflicting classifications of pathogenicity	Leber congenital amaurosis 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA3900950	rs_779447463	2 SubmittersRCV000285608 RCV002058633
NM_001122769.3(LCA5):c.586C>T (p.Leu196=)	SNV Germline	Chr6:79513346	Conflicting classifications of pathogenicity	Leber congenital amaurosis 5 Condition: not provided Leber congenital amaurosis	Criteria Provided Conflicting Classifications	CA3901093	rs_114426854	3 SubmittersRCV000303267 RCV000878193 RCV001272079
NM_001001557.4(GDF6):c.1304C>T (p.Ala435Val)	SNV Germline	Chr8:96144627	Conflicting classifications of pathogenicity	Klippel-Feil syndrome 1, autosomal dominant Isolated microphthalmia 4 Multiple synostoses syndrome 4 Microphthalmia, isolated, with coloboma 6 Leber congenital amaurosis 17 Klippel-Feil syndrome 1, autosomal dominant Isolated microphthalmia 4 Microphthalmia, isolated, with coloboma 6 Leber congenital amaurosis 17 Klippel-Feil syndrome 1, autosomal dominant	Criteria Provided Conflicting Classifications	CA4815342	rs_140782427	5 SubmittersRCV005355683 RCV001044903 RCV001027714
NM_003322.6(TULP1):c.823-8G>A	SNV Germline	Chr6:35506287	Conflicting classifications of pathogenicity	Leber congenital amaurosis 15 Retinitis pigmentosa Condition: not provided	Criteria Provided Conflicting Classifications	CA3772786	rs_372183095	2 SubmittersRCV000267212 RCV000361884 RCV001454626
NM_003322.6(TULP1):c.544A>G (p.Arg182Gly)	SNV Germline	Chr6:35509884	Conflicting classifications of pathogenicity	Retinitis pigmentosa Leber congenital amaurosis 15 Condition: not provided TULP1-related disorder	Criteria Provided Conflicting Classifications	CA3772881	rs_142641513	3 SubmittersRCV000334230 RCV000388773 RCV000878438 RCV004530441
NM_001122769.3(LCA5):c.2028C>T (p.Asp676=)	SNV Germline	Chr6:79487070	Conflicting classifications of pathogenicity	Leber congenital amaurosis 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA3900736	rs_768387283	2 SubmittersRCV000358431 RCV001423821
NM_001122769.3(LCA5):c.1746C>T (p.Asn582=)	SNV Germline	Chr6:79487352	Conflicting classifications of pathogenicity	Leber congenital amaurosis 5 Condition: not provided Leber congenital amaurosis	Criteria Provided Conflicting Classifications	CA3900782	rs_183011135	4 SubmittersRCV000260046 RCV000945780 RCV001272071
NM_001122769.3(LCA5):c.1097T>C (p.Leu366Ser)	SNV Germline	Chr6:79491589	Conflicting classifications of pathogenicity	Inborn genetic diseases Leber congenital amaurosis 5 Condition: not provided Leber congenital amaurosis	Criteria Provided Conflicting Classifications	CA3900944	rs_200988021	4 SubmittersRCV002524508 RCV000393430 RCV000946289 RCV001272073
NM_001122769.3(LCA5):c.1769A>G (p.Asp590Gly)	SNV Germline	Chr6:79487329	Conflicting classifications of pathogenicity	Leber congenital amaurosis 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA3900777	rs_771460783	3 SubmittersRCV000357229 RCV001517466
NM_001122769.3(LCA5):c.401A>C (p.Lys134Thr)	SNV Germline	Chr6:79513531	Conflicting classifications of pathogenicity	Leber congenital amaurosis 5 Retinitis pigmentosa Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA3901128	rs_200395970	5 SubmittersRCV000400678 RCV001199700 RCV001861293 RCV001553635
NM_000883.4(IMPDH1):c.1653C>T (p.His551=)	SNV Germline	Chr7:128394497	Conflicting classifications of pathogenicity	Leber congenital amaurosis 11 Condition: not provided Retinitis pigmentosa	Criteria Provided Conflicting Classifications	CA4470765	rs_147882304	2 SubmittersRCV000363032 RCV001518880 RCV000396001
NM_000883.4(IMPDH1):c.888C>T (p.Ile296=)	SNV Germline	Chr7:128398600	Conflicting classifications of pathogenicity	Leber congenital amaurosis 11 Retinitis pigmentosa Condition: not provided	Criteria Provided Conflicting Classifications	CA4470993	rs_72624957	2 SubmittersRCV000381950 RCV000342291 RCV002058652
NM_000883.4(IMPDH1):c.146+9C>T	SNV Germline	Chr7:128409747	Conflicting classifications of pathogenicity	Retinitis pigmentosa Leber congenital amaurosis 11 Condition: not provided	Criteria Provided Conflicting Classifications	CA4471278	rs_749118285	2 SubmittersRCV000313500 RCV000354378 RCV002523582
NM_000883.4(IMPDH1):c.*223C>G	SNV Germline	Chr7:128392784	Conflicting classifications of pathogenicity	Leber congenital amaurosis 11 Retinitis pigmentosa	Criteria Provided Conflicting Classifications	CA10628264	rs_543042380	1 SubmittersRCV000296114 RCV000332038
NM_000883.4(IMPDH1):c.1350C>T (p.Gly450=)	SNV Germline	Chr7:128395186	Conflicting classifications of pathogenicity	Retinitis pigmentosa Leber congenital amaurosis 11 Condition: not provided	Criteria Provided Conflicting Classifications	CA4470861	rs_780213373	2 SubmittersRCV000261438 RCV000369708 RCV003556363
NM_001001557.4(GDF6):c.957C>A (p.Ala319=)	SNV Germline	Chr8:96144974	Conflicting classifications of pathogenicity	Klippel-Feil syndrome 1, autosomal dominant Klippel-Feil syndrome 1, autosomal dominant Isolated microphthalmia 4 Microphthalmia, isolated, with coloboma 6 Leber congenital amaurosis 17	Criteria Provided Conflicting Classifications	CA4815384	rs_757525366	2 SubmittersRCV000404155 RCV002058750
NM_001001557.4(GDF6):c.770C>T (p.Pro257Leu)	SNV Germline	Chr8:96145161	Conflicting classifications of pathogenicity	Klippel-Feil syndrome 1, autosomal dominant Condition: not provided Isolated microphthalmia 4 Microphthalmia, isolated, with coloboma 6 Klippel-Feil syndrome 1, autosomal dominant Leber congenital amaurosis 17 Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA10631741	rs_886063208	5 SubmittersRCV000298662 RCV001200311 RCV001861334 RCV004022085 RCV004689724
NM_025114.4(CEP290):c.4087C>T (p.Arg1363Trp)	SNV Germline	Chr12:88087887	Conflicting classifications of pathogenicity	Joubert syndrome 5 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Condition: not provided Leber congenital amaurosis Meckel-Gruber syndrome Nephronophthisis Joubert syndrome Kidney disorder Retinal dystrophy CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6712028	rs_181121175	8 SubmittersRCV000288370 RCV000291084 RCV000345714 RCV000389733 RCV000400374 RCV000548918 RCV001273074 RCV001085312 RCV002294263 RCV003888722 RCV004537751
NM_025114.4(CEP290):c.1549T>C (p.Leu517=)	SNV Germline	Chr12:88118717	Conflicting classifications of pathogenicity	Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Joubert syndrome 5 Condition: not provided Meckel-Gruber syndrome Joubert syndrome Nephronophthisis	Criteria Provided Conflicting Classifications	CA6712526	rs_752942122	3 SubmittersRCV000305920 RCV000299546 RCV000335728 RCV000360538 RCV000398619 RCV000728042 RCV001079199
NM_025114.4(CEP290):c.-41C>T	SNV Germline	Chr12:88141913	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Joubert syndrome 5 Senior-Loken syndrome 6 not specified Meckel syndrome, type 4 CEP290-related disorder	Criteria Provided Conflicting Classifications	CA10633653	rs_759820573	3 SubmittersRCV000281237 RCV000330322 RCV000372028 RCV000338378 RCV000422198 RCV000387258 RCV004537755
NM_020366.4(RPGRIP1):c.658A>G (p.Met220Val)	SNV Germline	Chr14:21303401	Conflicting classifications of pathogenicity	Cone-rod dystrophy 13 Leber congenital amaurosis 6 Leber congenital amaurosis 6 Cone-rod dystrophy 13	Criteria Provided Conflicting Classifications	CA7088724	rs_371762530	3 SubmittersRCV000329549 RCV000384076 RCV000983971
NM_020366.4(RPGRIP1):c.2331C>T (p.Thr777=)	SNV Germline	Chr14:21325347	Conflicting classifications of pathogenicity	Cone-rod dystrophy 13 Leber congenital amaurosis 6 Leber congenital amaurosis 6 Cone-rod dystrophy 13	Criteria Provided Conflicting Classifications	CA7089218	rs_760801598	2 SubmittersRCV000304224 RCV000345062 RCV005213262
NM_020366.4(RPGRIP1):c.2334T>C (p.Asp778=)	SNV Germline	Chr14:21325350	Conflicting classifications of pathogenicity	Cone-rod dystrophy 13 Leber congenital amaurosis 6 Cone-rod dystrophy 13 Leber congenital amaurosis 6	Criteria Provided Conflicting Classifications	CA7089221	rs_188318743	3 SubmittersRCV000310166 RCV001513783 RCV000398658
NM_152443.3(RDH12):c.570C>T (p.Ser190=)	SNV Germline	Chr14:67727102	Conflicting classifications of pathogenicity	Retinitis Pigmentosa, Recessive Leber congenital amaurosis Leber congenital amaurosis 13 Retinitis pigmentosa Retinal dystrophy	Criteria Provided Conflicting Classifications	CA7238750	rs_79869437	4 SubmittersRCV000346851 RCV001275433 RCV000951682 RCV001109349 RCV003888728
NM_152443.3(RDH12):c.701G>A (p.Arg234His)	SNV Germline	Chr14:67729233	Conflicting classifications of pathogenicity	Leber congenital amaurosis 13 Condition: not provided Macular dystrophy Leber congenital amaurosis Retinal dystrophy	Criteria Provided Conflicting Classifications	CA7238798	rs_750636662	10 SubmittersRCV001243727 RCV001753776 RCV000993746 RCV001833459 RCV003324525
NM_018418.5(SPATA7):c.207G>A (p.Ser69=)	SNV Germline	Chr14:88396172	Conflicting classifications of pathogenicity	Leber congenital amaurosis 3 Retinitis pigmentosa Retinal dystrophy	Criteria Provided Conflicting Classifications	CA7298426	rs_142913613	3 SubmittersRCV000347324 RCV000397832 RCV003888729
NM_025114.4(CEP290):c.7365A>G (p.Glu2455=)	SNV Germline	Chr12:88049259	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Joubert syndrome 5 Meckel syndrome, type 4 Meckel-Gruber syndrome Joubert syndrome Nephronophthisis CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6711281	rs_765709669	3 SubmittersRCV000280658 RCV000286608 RCV000339178 RCV000378693 RCV000401265 RCV001410302 RCV004537747
NM_025114.4(CEP290):c.7209+7T>G	SNV Germline	Chr12:88050347	Conflicting classifications of pathogenicity	Meckel syndrome, type 4 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Joubert syndrome 5 Leber congenital amaurosis 10 Condition: not provided Meckel-Gruber syndrome Joubert syndrome Nephronophthisis	Criteria Provided Conflicting Classifications	CA6711328	rs_745813087	3 SubmittersRCV000270876 RCV000283328 RCV000323734 RCV000322071 RCV000380635 RCV000729391 RCV001409432
NM_025114.4(CEP290):c.5764A>C (p.Ile1922Leu)	SNV Germline	Chr12:88071872	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Joubert syndrome 5 Meckel syndrome, type 4 not specified Meckel-Gruber syndrome Joubert syndrome Nephronophthisis Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6711648	rs_746949236	4 SubmittersRCV000303118 RCV000339249 RCV000347524 RCV000391502 RCV000398921 RCV000603796 RCV001341200 RCV005532627
NM_025114.4(CEP290):c.4064G>A (p.Arg1355His)	SNV Germline	Chr12:88087910	Conflicting classifications of pathogenicity	Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Joubert syndrome 5 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Condition: not provided Meckel-Gruber syndrome Joubert syndrome Nephronophthisis Leber congenital amaurosis Meckel syndrome, type 4 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Joubert syndrome 5 Bardet-Biedl syndrome 14 CEP290-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10638682	rs_548558619	7 SubmittersRCV000303931 RCV000339034 RCV000361178 RCV000391345 RCV000398556 RCV001590929 RCV001242966 RCV001835779 RCV002487370 RCV004544542 RCV005540054
NM_025114.4(CEP290):c.3574-15T>A	SNV Germline	Chr12:88089502	Conflicting classifications of pathogenicity	Senior-Loken syndrome 6 Meckel syndrome, type 4 Leber congenital amaurosis 10 Joubert syndrome 5 Bardet-Biedl syndrome 14 Meckel-Gruber syndrome Joubert syndrome Nephronophthisis	Criteria Provided Conflicting Classifications	CA6712114	rs_565414938	2 SubmittersRCV000267083 RCV000272452 RCV000321121 RCV000324529 RCV000378166 RCV001513375
NM_025114.4(CEP290):c.2174A>C (p.Glu725Ala)	SNV Germline	Chr12:88111737	Conflicting classifications of pathogenicity	Meckel syndrome, type 4 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel-Gruber syndrome Joubert syndrome Nephronophthisis Condition: not provided Microcephaly Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 Retinal dystrophy CEP290-related disorder Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Joubert syndrome 5	Criteria Provided Conflicting Classifications	CA6712389	rs_375038986	9 SubmittersRCV000307295 RCV000310425 RCV000371328 RCV000365084 RCV000400672 RCV000861492 RCV001562789 RCV001252733 RCV002467728 RCV003888723 RCV004732842 RCV005003631
NM_025114.4(CEP290):c.54G>A (p.Leu18=)	SNV Germline	Chr12:88141254	Conflicting classifications of pathogenicity	Joubert syndrome 5 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Meckel-Gruber syndrome Joubert syndrome Nephronophthisis	Criteria Provided Conflicting Classifications	CA10638700	rs_886049885	2 SubmittersRCV000295236 RCV000325527 RCV000352716 RCV000382505 RCV000386249 RCV001421212
NM_020366.4(RPGRIP1):c.50T>C (p.Ile17Thr)	SNV Germline	Chr14:21288026	Conflicting classifications of pathogenicity	Leber congenital amaurosis 6 Cone-rod dystrophy 13 Leber congenital amaurosis 6 Cone-rod dystrophy 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA7088532	rs_201384449	5 SubmittersRCV000285535 RCV000345131 RCV001079403 RCV000416234
NM_014336.5(AIPL1):c.*221G>A	SNV Germline	Chr17:6425239	Conflicting classifications of pathogenicity	Retinitis Pigmentosa, Recessive Leber congenital amaurosis 4 Retinitis Pigmentosa, Dominant	Criteria Provided Conflicting Classifications	CA10640244	rs_112307858	1 SubmittersRCV000289957 RCV000347294 RCV000380964
NM_014336.5(AIPL1):c.1108C>T (p.Pro370Ser)	SNV Germline	Chr17:6425507	Conflicting classifications of pathogenicity	Retinitis Pigmentosa, Dominant Retinitis pigmentosa Leber congenital amaurosis 4 Condition: not provided Inborn genetic diseases Leber congenital amaurosis 4 Retinitis pigmentosa Retinal dystrophy	Criteria Provided Conflicting Classifications	CA8328309	rs_139079107	6 SubmittersRCV000344923 RCV000394165 RCV001047506 RCV000591606 RCV002523002 RCV002487427 RCV004816569
NM_014336.5(AIPL1):c.377T>A (p.Met126Lys)	SNV Germline	Chr17:6428406	Conflicting classifications of pathogenicity	Retinitis pigmentosa Leber congenital amaurosis 4 Retinitis Pigmentosa, Recessive Retinal dystrophy not specified	Criteria Provided Conflicting Classifications	CA8328529	rs_761622978	4 SubmittersRCV000283711 RCV000343358 RCV000379251 RCV001074745 RCV003226280
NM_152443.3(RDH12):c.283C>T (p.Arg95Trp)	SNV Germline	Chr14:67725194	Conflicting classifications of pathogenicity	Retinitis Pigmentosa, Recessive Retinitis pigmentosa Leber congenital amaurosis 13 Retinal dystrophy	Criteria Provided Conflicting Classifications	CA7238660	rs_552516182	4 SubmittersRCV000381378 RCV001109345 RCV001850657 RCV003888726
NM_152443.3(RDH12):c.659-12T>C	SNV Germline	Chr14:67729179	Conflicting classifications of pathogenicity	Retinitis Pigmentosa, Recessive Leber congenital amaurosis 13 Retinitis pigmentosa	Criteria Provided Conflicting Classifications	CA7238784	rs_77686476	2 SubmittersRCV000408169 RCV001510147 RCV001109350
NM_152443.3(RDH12):c.662C>T (p.Thr221Ile)	SNV Germline	Chr14:67729194	Conflicting classifications of pathogenicity	Retinitis Pigmentosa, Recessive Leber congenital amaurosis Leber congenital amaurosis 13 Retinitis pigmentosa Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7238787	rs_769317754	4 SubmittersRCV000302468 RCV001275436 RCV000955105 RCV001111665 RCV002520913
NM_018418.5(SPATA7):c.387G>A (p.Pro129=)	SNV Germline	Chr14:88426246	Conflicting classifications of pathogenicity	Retinitis pigmentosa Leber congenital amaurosis 3 not specified	Criteria Provided Conflicting Classifications	CA7298529	rs_199727517	3 SubmittersRCV000389308 RCV000952248 RCV005434815
NM_025114.4(CEP290):c.7186G>T (p.Asp2396Tyr)	SNV Germline	Chr12:88050377	Conflicting classifications of pathogenicity	Leber congenital amaurosis 10 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Joubert syndrome 5 Meckel syndrome, type 4 Meckel-Gruber syndrome Joubert syndrome Nephronophthisis Leber congenital amaurosis Condition: not provided not specified Retinal dystrophy	Criteria Provided Conflicting Classifications	CA6711331	rs_189556433	7 SubmittersRCV000282628 RCV000295385 RCV000335271 RCV000374397 RCV000400288 RCV000465588 RCV001276480 RCV001545810 RCV001700050 RCV003888721
NM_025114.4(CEP290):c.5709+12A>G	SNV Germline	Chr12:88077210	Conflicting classifications of pathogenicity	Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Joubert syndrome 5 Meckel syndrome, type 4 Meckel-Gruber syndrome Joubert syndrome Nephronophthisis	Criteria Provided Conflicting Classifications	CA6711673	rs_371010287	2 SubmittersRCV000259439 RCV000300620 RCV000304102 RCV000354211 RCV000355216 RCV002056336
NM_025114.4(CEP290):c.4151G>A (p.Arg1384His)	SNV Germline	Chr12:88087823	Conflicting classifications of pathogenicity	Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Joubert syndrome 5 not specified Meckel-Gruber syndrome Joubert syndrome Nephronophthisis Leber congenital amaurosis CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6712022	rs_143152287	5 SubmittersRCV000268181 RCV000303676 RCV000316272 RCV000354663 RCV000360821 RCV000603267 RCV001347081 RCV001273072 RCV004732840
NM_025114.4(CEP290):c.3790C>T (p.Arg1264Cys)	SNV Germline	Chr12:88089271	Conflicting classifications of pathogenicity	Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Leber congenital amaurosis Condition: not provided Retinitis pigmentosa Retinal dystrophy Inborn genetic diseases CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6712084	rs_139998038	11 SubmittersRCV000276434 RCV000289191 RCV000327895 RCV000333827 RCV000381363 RCV000557002 RCV001273076 RCV001555535 RCV001590930 RCV001074452 RCV002520840 RCV004544543
NM_025114.4(CEP290):c.2616G>A (p.Ser872=)	SNV Germline	Chr12:88106876	Conflicting classifications of pathogenicity	Senior-Loken syndrome 6 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 not specified Meckel-Gruber syndrome Joubert syndrome Nephronophthisis CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6712296	rs_776360559	4 SubmittersRCV000282243 RCV000337086 RCV000350122 RCV000394763 RCV000399710 RCV000605884 RCV001245594 RCV004544544
NM_025114.4(CEP290):c.1908A>T (p.Lys636Asn)	SNV Germline	Chr12:88115099	Conflicting classifications of pathogenicity	Leber congenital amaurosis 10 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Joubert syndrome 5 Meckel syndrome, type 4 Meckel-Gruber syndrome Joubert syndrome Nephronophthisis Leber congenital amaurosis Condition: not provided Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5	Criteria Provided Conflicting Classifications	CA6712437	rs_199747962	5 SubmittersRCV000311480 RCV000315150 RCV000351341 RCV000357069 RCV000390499 RCV000860718 RCV001833458 RCV002461069 RCV002467729
NM_025114.4(CEP290):c.-33G>T	SNV Germline	Chr12:88141905	Conflicting classifications of pathogenicity	Meckel syndrome, type 4 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Condition: not provided Joubert syndrome 5	Criteria Provided Conflicting Classifications	CA10642542	rs_139415563	2 SubmittersRCV000266217 RCV000309585 RCV000305052 RCV000357550 RCV001642965 RCV000402356
NM_000554.6(CRX):c.717C>A (p.Gly239=)	SNV Germline	Chr19:47839784	Conflicting classifications of pathogenicity	Cone-rod dystrophy 2 Leber congenital amaurosis 7 Retinitis pigmentosa Cone-rod dystrophy 2 Leber congenital amaurosis 7	Criteria Provided Conflicting Classifications	CA10643043	rs_886054546	2 SubmittersRCV000261856 RCV000319418 RCV000371926 RCV002057520
NM_000554.6(CRX):c.*595C>T	SNV Germline	Chr19:47840562	Conflicting classifications of pathogenicity	Cone-rod dystrophy 2 Leber congenital amaurosis 7 Retinitis pigmentosa	Criteria Provided Conflicting Classifications	CA10643051	rs_111448395	1 SubmittersRCV000283255 RCV000342965 RCV000377666
NM_000554.6(CRX):c.*2039C>T	SNV Germline	Chr19:47842006	Conflicting classifications of pathogenicity	Retinitis pigmentosa Leber congenital amaurosis 7 Cone-rod dystrophy 2	Criteria Provided Conflicting Classifications	CA10643083	rs_189556251	1 SubmittersRCV000307672 RCV000401185 RCV000361147
NM_000554.6(CRX):c.*2539C>T	SNV Germline	Chr19:47842506	Conflicting classifications of pathogenicity	Leber congenital amaurosis 7 Cone-rod dystrophy 2 Retinitis pigmentosa	Criteria Provided Conflicting Classifications	CA10643087	rs_146417527	1 SubmittersRCV000282067 RCV000337066 RCV000395396
NM_025114.4(CEP290):c.4293G>A (p.Ala1431=)	SNV Germline	Chr12:88086400	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Joubert syndrome 5 Meckel syndrome, type 4 Leber congenital amaurosis 10 Meckel-Gruber syndrome Joubert syndrome Nephronophthisis CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6711985	rs_377614744	3 SubmittersRCV000271533 RCV000306869 RCV000328955 RCV000363839 RCV000376492 RCV000869776 RCV004537749
NM_025114.4(CEP290):c.1623+10G>T	SNV Germline	Chr12:88118633	Conflicting classifications of pathogenicity	Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Meckel-Gruber syndrome Joubert syndrome Nephronophthisis	Criteria Provided Conflicting Classifications	CA6712516	rs_377529198	2 SubmittersRCV000272744 RCV000287480 RCV000327713 RCV000376587 RCV000382304 RCV000981128
NM_025114.4(CEP290):c.503G>A (p.Arg168His)	SNV Germline	Chr12:88130558	Conflicting classifications of pathogenicity	Joubert syndrome 5 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Retinitis pigmentosa Meckel-Gruber syndrome Joubert syndrome Nephronophthisis Leber congenital amaurosis not specified CEP290-related disorder Retinal dystrophy CEP290-related ciliopathy	Criteria Provided Conflicting Classifications	CA6712768	rs_200063017	8 SubmittersRCV000263394 RCV000285505 RCV000316286 RCV000355828 RCV000373256 RCV000787814 RCV000637006 RCV001275046 RCV003330639 RCV004537752 RCV003888725 RCV005355635
NM_020366.4(RPGRIP1):c.912C>T (p.Tyr304=)	SNV Germline	Chr14:21310589	Conflicting classifications of pathogenicity	Cone-rod dystrophy 13 Leber congenital amaurosis 6 Leber congenital amaurosis 6 Cone-rod dystrophy 13	Criteria Provided Conflicting Classifications	CA7088785	rs_568372341	2 SubmittersRCV000294353 RCV000349312 RCV005222889
NM_020366.4(RPGRIP1):c.1200G>A (p.Glu400=)	SNV Germline	Chr14:21317744	Conflicting classifications of pathogenicity	Cone-rod dystrophy 13 Leber congenital amaurosis 6 Leber congenital amaurosis 6 Cone-rod dystrophy 13	Criteria Provided Conflicting Classifications	CA7088904	rs_749098397	2 SubmittersRCV000301537 RCV000390467 RCV005213261
NM_020366.4(RPGRIP1):c.218+13C>G	SNV Germline	Chr14:21294822	Conflicting classifications of pathogenicity	Cone-rod dystrophy 13 Leber congenital amaurosis 6 Leber congenital amaurosis 6 Cone-rod dystrophy 13 not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA7088596	rs_200225522	5 SubmittersRCV000291173 RCV000394793 RCV001512676 RCV000425637 RCV003656104
NM_020366.4(RPGRIP1):c.1197C>T (p.Asn399=)	SNV Germline	Chr14:21317741	Conflicting classifications of pathogenicity	Cone-rod dystrophy 13 Leber congenital amaurosis 6 Leber congenital amaurosis 6 Cone-rod dystrophy 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA7088903	rs_372186092	3 SubmittersRCV000300508 RCV000355383 RCV001088261 RCV000761864
NM_020366.4(RPGRIP1):c.1401A>G (p.Gln467=)	SNV Germline	Chr14:21320111	Conflicting classifications of pathogenicity	Cone-rod dystrophy 13 Leber congenital amaurosis 6 Leber congenital amaurosis 6 Cone-rod dystrophy 13	Criteria Provided Conflicting Classifications	CA7088958	rs_184853466	3 SubmittersRCV000266562 RCV000361207 RCV001470125
NM_018418.5(SPATA7):c.372+11A>G	SNV Germline	Chr14:88416855	Conflicting classifications of pathogenicity	Leber congenital amaurosis 3 Retinitis pigmentosa	Criteria Provided Conflicting Classifications	CA7298502	rs_757636745	2 SubmittersRCV000260674 RCV000355596
NM_018418.5(SPATA7):c.1216-4C>T	SNV Germline	Chr14:88437834	Conflicting classifications of pathogenicity	Retinitis pigmentosa Leber congenital amaurosis 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA7298777	rs_755958987	4 SubmittersRCV000313262 RCV000402357 RCV001699358
NM_018418.5(SPATA7):c.57G>T (p.Pro19=)	SNV Germline	Chr14:88391418	Conflicting classifications of pathogenicity	Retinitis pigmentosa Leber congenital amaurosis 3	Criteria Provided Conflicting Classifications	CA7298357	rs_367830780	2 SubmittersRCV000279037 RCV000886701
NM_018418.5(SPATA7):c.913-14T>A	SNV Germline	Chr14:88429334	Conflicting classifications of pathogenicity	Retinitis pigmentosa Leber congenital amaurosis 3	Criteria Provided Conflicting Classifications	CA7298648	rs_185459765	2 SubmittersRCV000283045 RCV000395762
NM_014336.5(AIPL1):c.*390G>T	SNV Germline	Chr17:6425070	Conflicting classifications of pathogenicity	Leber congenital amaurosis 4 Retinitis Pigmentosa, Dominant Retinitis Pigmentosa, Recessive	Criteria Provided Conflicting Classifications	CA10646487	rs_182504714	1 SubmittersRCV000263799 RCV000316870 RCV000387721
NM_014336.5(AIPL1):c.*134G>T	SNV Germline	Chr17:6425326	Conflicting classifications of pathogenicity	Retinitis Pigmentosa, Dominant Leber congenital amaurosis 4 Retinitis Pigmentosa, Recessive	Criteria Provided Conflicting Classifications	CA10646499	rs_2090068	1 SubmittersRCV000270465 RCV000306814 RCV000369874
NM_014336.5(AIPL1):c.616A>G (p.Ile206Val)	SNV Germline	Chr17:6426907	Conflicting classifications of pathogenicity	Leber congenital amaurosis 4 Retinitis Pigmentosa, Recessive Retinitis Pigmentosa, Dominant	Criteria Provided Conflicting Classifications	CA8328457	rs_772911646	2 SubmittersRCV000300735 RCV000355535 RCV000400033
NM_000554.6(CRX):c.28C>G (p.His10Asp)	SNV Germline	Chr19:47834471	Conflicting classifications of pathogenicity	Cone-rod dystrophy 2 Leber congenital amaurosis 7 Condition: not provided Leber congenital amaurosis 7 Cone-rod dystrophy 2 Retinitis pigmentosa Retinal dystrophy	Criteria Provided Conflicting Classifications	CA9544368	rs_139340178	7 SubmittersRCV000280624 RCV000401704 RCV000878021 RCV001087610 RCV000787830 RCV004816570
NM_000554.6(CRX):c.*996C>G	SNV Germline	Chr19:47840963	Conflicting classifications of pathogenicity	Leber congenital amaurosis 7 Cone-rod dystrophy 2 Retinitis pigmentosa	Criteria Provided Conflicting Classifications	CA10648904	rs_550939154	1 SubmittersRCV000271568 RCV000328839 RCV000363813
NM_000554.6(CRX):c.*1917G>A	SNV Germline	Chr19:47841884	Conflicting classifications of pathogenicity	Cone-rod dystrophy 2 Leber congenital amaurosis 7 Retinitis pigmentosa	Criteria Provided Conflicting Classifications	CA10648925	rs_557773336	1 SubmittersRCV000278381 RCV000351076 RCV000389164
NM_000554.6(CRX):c.*2739G>A	SNV Germline	Chr19:47842706	Conflicting classifications of pathogenicity	Cone-rod dystrophy 2 Leber congenital amaurosis 7 Retinitis pigmentosa	Criteria Provided Conflicting Classifications	CA10648928	rs_149039830	1 SubmittersRCV000295144 RCV000335037 RCV000389522
NM_014336.5(AIPL1):c.*1178C>T	SNV Germline	Chr17:6424282	Conflicting classifications of pathogenicity	Leber congenital amaurosis 4 Retinitis Pigmentosa, Dominant Retinitis Pigmentosa, Recessive	Criteria Provided Conflicting Classifications	CA10649826	rs_149460055	1 SubmittersRCV000283429 RCV000323291 RCV000380213
NM_014336.5(AIPL1):c.780C>T (p.His260=)	SNV Germline	Chr17:6426619	Conflicting classifications of pathogenicity	Retinitis Pigmentosa, Recessive Retinitis Pigmentosa, Dominant Condition: not provided Leber congenital amaurosis 4	Criteria Provided Conflicting Classifications	CA8328403	rs_145304845	5 SubmittersRCV000267113 RCV000361638 RCV000878128 RCV001087156
NM_014336.5(AIPL1):c.414C>T (p.Asp138=)	SNV Germline	Chr17:6428369	Conflicting classifications of pathogenicity	Retinitis Pigmentosa, Recessive Leber congenital amaurosis 4 Retinitis pigmentosa	Criteria Provided Conflicting Classifications	CA8328519	rs_565896898	2 SubmittersRCV000276531 RCV000326868 RCV000381302
NM_014336.5(AIPL1):c.97-15C>T	SNV Germline	Chr17:6434113	Conflicting classifications of pathogenicity	Retinitis Pigmentosa, Dominant Retinitis Pigmentosa, Recessive Leber congenital amaurosis 4	Criteria Provided Conflicting Classifications	CA8328627	rs_190887679	2 SubmittersRCV000259688 RCV000317213 RCV000355617
NM_014336.5(AIPL1):c.*1237C>T	SNV Germline	Chr17:6424223	Conflicting classifications of pathogenicity	Retinitis Pigmentosa, Dominant Retinitis Pigmentosa, Recessive Leber congenital amaurosis 4	Criteria Provided Conflicting Classifications	CA10650669	rs_139074266	1 SubmittersRCV000277065 RCV000298029 RCV000369144
NM_014336.5(AIPL1):c.*824G>C	SNV Germline	Chr17:6424636	Conflicting classifications of pathogenicity	Retinitis Pigmentosa, Recessive Leber congenital amaurosis 4 Retinitis Pigmentosa, Dominant	Criteria Provided Conflicting Classifications	CA10650670	rs_145706166	1 SubmittersRCV000280028 RCV000372318 RCV000351354
NM_014336.5(AIPL1):c.*188G>A	SNV Germline	Chr17:6425272	Conflicting classifications of pathogenicity	Retinitis Pigmentosa, Recessive Retinitis Pigmentosa, Dominant Leber congenital amaurosis 4	Criteria Provided Conflicting Classifications	CA10650672	rs_1317185	1 SubmittersRCV000290656 RCV000340884 RCV000395852
NM_014336.5(AIPL1):c.785-11G>A	SNV Germline	Chr17:6425841	Conflicting classifications of pathogenicity	Leber congenital amaurosis 4 Retinitis pigmentosa Retinitis Pigmentosa, Dominant	Criteria Provided Conflicting Classifications	CA8328384	rs_199772097	2 SubmittersRCV000302382 RCV000310663 RCV000398512
NM_014336.5(AIPL1):c.737A>C (p.Tyr246Ser)	SNV Germline	Chr17:6426662	Conflicting classifications of pathogenicity	Retinitis pigmentosa Retinitis Pigmentosa, Dominant Retinal dystrophy Condition: not provided Leber congenital amaurosis 4	Criteria Provided Conflicting Classifications	CA8328414	rs_138585919	4 SubmittersRCV000332251 RCV000385713 RCV001075005 RCV003456394 RCV000981801
NM_014336.5(AIPL1):c.642+14G>A	SNV Germline	Chr17:6426867	Conflicting classifications of pathogenicity	Retinitis Pigmentosa, Recessive Retinitis Pigmentosa, Dominant Leber congenital amaurosis 4	Criteria Provided Conflicting Classifications	CA8328448	rs_188779461	2 SubmittersRCV000284443 RCV000339003 RCV000403542
NM_000554.6(CRX):c.*6G>A	SNV Germline	Chr19:47839973	Conflicting classifications of pathogenicity	Retinitis pigmentosa Cone-rod dystrophy 2 Leber congenital amaurosis 7	Criteria Provided Conflicting Classifications	CA9544590	rs_375770558	1 SubmittersRCV000283331 RCV000340719 RCV000383663
NM_000554.6(CRX):c.*118C>A	SNV Germline	Chr19:47840085	Conflicting classifications of pathogenicity	Leber congenital amaurosis 7 Cone-rod dystrophy 2 Retinitis pigmentosa	Criteria Provided Conflicting Classifications	CA10652624	rs_543729483	1 SubmittersRCV000293631 RCV000401350 RCV000348576
NM_000554.6(CRX):c.*767G>A	SNV Germline	Chr19:47840734	Conflicting classifications of pathogenicity	Retinitis pigmentosa Leber congenital amaurosis 7 Cone-rod dystrophy 2	Criteria Provided Conflicting Classifications	CA10652632	rs_544037698	1 SubmittersRCV000311981 RCV000352814 RCV000390415
NM_000554.6(CRX):c.*2137G>A	SNV Germline	Chr19:47842104	Conflicting classifications of pathogenicity	Retinitis pigmentosa Cone-rod dystrophy 2 Leber congenital amaurosis 7	Criteria Provided Conflicting Classifications	CA10652641	rs_181823708	1 SubmittersRCV000279799 RCV000318530 RCV000372070
NM_201253.3(CRB1):c.2506C>A (p.Pro836Thr)	SNV Germline	Chr1:197427831	Pathogenic/Likely pathogenic	not specified Leber congenital amaurosis 1 Retinal dystrophy Retinitis pigmentosa 12 Retinitis pigmentosa 12 Leber congenital amaurosis 8 Leber congenital amaurosis 8 Hereditary macular dystrophy Condition: not provided Pigmented paravenous retinochoroidal atrophy Retinitis pigmentosa 12 Leber congenital amaurosis 8 Pigmented paravenous retinochoroidal atrophy CRB1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA1312130	rs_116471343	14 SubmittersRCV000414087 RCV000986491 RCV001073689 RCV001376383 RCV001064315 RCV003475999 RCV005355703 RCV001810876 RCV005010304 RCV003137989 RCV004739713
NM_201253.3(CRB1):c.4061C>A (p.Ala1354Asp)	SNV Germline	Chr1:197477719	Conflicting classifications of pathogenicity	not specified Retinitis pigmentosa 12 Leber congenital amaurosis 8 Leber congenital amaurosis	Criteria Provided Conflicting Classifications	CA1312549	rs_760100325	3 SubmittersRCV000414607 RCV001207041 RCV001828387
NM_020366.4(RPGRIP1):c.3339+5G>A	SNV Germline	Chr14:21334710	Likely pathogenic	Condition: not provided Leber congenital amaurosis	Criteria Provided Single Submitter	CA16042847	rs_1057518122	2 SubmittersRCV000413987 RCV000515742
NM_025114.4(CEP290):c.451C>T (p.Arg151Ter)	SNV Germline	Chr12:88131209	Pathogenic/Likely pathogenic	Condition: not provided Nephronophthisis Joubert syndrome Meckel-Gruber syndrome Leber congenital amaurosis 10 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Joubert syndrome 5 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 not specified Inborn genetic diseases Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA6712782	rs_757641323	9 SubmittersRCV000414162 RCV000552078 RCV002470852 RCV005010313 RCV000999862 RCV005540072 RCV003463818
NM_000329.3(RPE65):c.1338+1G>A	SNV Germline	Chr1:68431281	Pathogenic	Abnormality of vision Abnormal electroretinogram Congenital blindness Retinal degeneration Retinitis pigmentosa 20 Retinitis pigmentosa 20 Leber congenital amaurosis 2 Leber congenital amaurosis 2 Retinal dystrophy Retinitis pigmentosa 87 with choroidal involvement Retinitis pigmentosa 20 Leber congenital amaurosis 2 RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA16043370	rs_1057518922	6 SubmittersRCV000415360 RCV001198362 RCV001066256 RCV003470368 RCV004816644 RCV005033948 RCV005252881
NM_000883.4(IMPDH1):c.928A>C (p.Thr310Pro)	SNV Unknown	Chr7:128398560	Likely pathogenic	Retinitis pigmentosa Leber congenital amaurosis 11	Criteria Provided Single Submitter	CA16043423	rs_1057518949	1 SubmittersRCV000415244 RCV001198950
NM_025114.4(CEP290):c.2941C>T (p.Gln981Ter)	SNV Germline	Chr12:88102888	Pathogenic/Likely pathogenic	Central hypotonia Nystagmus Molar tooth sign on MRI Blindness Joubert syndrome 5 Nephronophthisis Meckel-Gruber syndrome Joubert syndrome Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Meckel syndrome, type 4 Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Joubert syndrome 5	Criteria Provided Multiple Submitters No Conflicts	CA16043473	rs_1057518822	4 SubmittersRCV000414899 RCV000415004 RCV001199375 RCV003766165 RCV003470364 RCV005004147
NM_000329.3(RPE65):c.130C>T (p.Arg44Ter)	SNV Germline	Chr1:68446825	Pathogenic	Retinitis pigmentosa Condition: not provided Leber congenital amaurosis 2 Retinitis pigmentosa 20 Leber congenital amaurosis 2 Leber congenital amaurosis RPE65-related disorder RPE65-related recessive retinopathy Retinal dystrophy	Reviewed By Expert Panel	CA902588	rs_368088025	13 SubmittersRCV000787883 RCV000416243 RCV003470371 RCV000528380 RCV001275339 RCV001249416 RCV002466496 RCV003889879
NM_020366.4(RPGRIP1):c.268G>A (p.Val90Ile)	SNV Germline	Chr14:21301015	Conflicting classifications of pathogenicity	Cone dystrophy Condition: not provided Leber congenital amaurosis 6 Cone-rod dystrophy 13 Leber congenital amaurosis 6 Cone-rod dystrophy 13 Retinal dystrophy	Criteria Provided Conflicting Classifications	CA16043847	rs_1057519200	5 SubmittersRCV001199770 RCV000415874 RCV001359271 RCV001800663 RCV001800664 RCV004816650
NM_022787.4(NMNAT1):c.710G>A (p.Arg237His)	SNV Germline	Chr1:9982571	Conflicting classifications of pathogenicity	Condition: not provided Leber congenital amaurosis 9	Criteria Provided Conflicting Classifications	CA579316	rs_368062092	2 SubmittersRCV000415779 RCV005252883
NM_201253.3(CRB1):c.2746C>T (p.Leu916Phe)	SNV Germline	Chr1:197429518	Conflicting classifications of pathogenicity	Condition: not provided Pigmented paravenous retinochoroidal atrophy Retinitis pigmentosa 12 Inborn genetic diseases Leber congenital amaurosis 8 Retinitis pigmentosa 12 Leber congenital amaurosis 8 Leber congenital amaurosis	Criteria Provided Conflicting Classifications	CA1312198	rs_140648074	6 SubmittersRCV000415891 RCV001270085 RCV001563885 RCV002521478 RCV001242512 RCV001563884 RCV001828390
NM_025114.4(CEP290):c.523C>A (p.Gln175Lys)	SNV Germline	Chr12:88130414	Conflicting classifications of pathogenicity	Condition: not provided Joubert syndrome 5 Meckel syndrome, type 4 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Leber congenital amaurosis Joubert syndrome Nephronophthisis Meckel-Gruber syndrome Leber congenital amaurosis 10 Intellectual disability CEP290-related disorder Retinal dystrophy Senior-Loken syndrome 6 Leber congenital amaurosis 10 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Joubert syndrome 5	Criteria Provided Conflicting Classifications	CA6712745	rs_202159966	9 SubmittersRCV000428640 RCV001109866 RCV001109867 RCV001109868 RCV001110658 RCV001275045 RCV000809280 RCV001109869 RCV001252443 RCV004530521 RCV004816652 RCV005010318
NM_025114.4(CEP290):c.6629G>A (p.Arg2210His)	SNV Germline	Chr12:88059914	Conflicting classifications of pathogenicity	Meckel-Gruber syndrome Joubert syndrome Nephronophthisis Senior-Loken syndrome 6 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Joubert syndrome 5 Leber congenital amaurosis 10 Condition: not provided Leber congenital amaurosis Retinal dystrophy	Criteria Provided Conflicting Classifications	CA6711461	rs_371833544	6 SubmittersRCV001245037 RCV000765111 RCV000417476 RCV001276484 RCV003889881
NM_025114.4(CEP290):c.6132T>G (p.Pro2044=)	SNV Germline	Chr12:88068525	Conflicting classifications of pathogenicity	not specified Condition: not provided Leber congenital amaurosis Joubert syndrome Nephronophthisis Meckel-Gruber syndrome CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6711569	rs_765002773	5 SubmittersRCV000421065 RCV000726726 RCV001828431 RCV001083326 RCV004533083
NM_025114.4(CEP290):c.1360-4T>G	SNV Germline	Chr12:88120280	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 14 Joubert syndrome 5 Meckel syndrome, type 4 not specified Meckel-Gruber syndrome Joubert syndrome Nephronophthisis Leber congenital amaurosis 10 Senior-Loken syndrome 6 Condition: not provided	Criteria Provided Conflicting Classifications	CA6712563	rs_200328638	4 SubmittersRCV001112007 RCV001112009 RCV001112452 RCV000441785 RCV000474649 RCV001112008 RCV001112451 RCV002510886
NM_020366.4(RPGRIP1):c.930+3A>G	SNV Germline	Chr14:21310610	Conflicting classifications of pathogenicity	Condition: not provided not specified Leber congenital amaurosis 6 Leber congenital amaurosis 6 Cone-rod dystrophy 13 Cone-rod dystrophy 13 RPGRIP1-related disorder	Criteria Provided Conflicting Classifications	CA7088791	rs_150107283	6 SubmittersRCV000585329 RCV000417812 RCV001113069 RCV001083158 RCV001113068 RCV003932581
NM_025114.4(CEP290):c.1729C>T (p.Leu577=)	SNV Germline	Chr12:88117128	Conflicting classifications of pathogenicity	Condition: not provided Leber congenital amaurosis 10 Joubert syndrome Nephronophthisis Meckel-Gruber syndrome Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Joubert syndrome 5	Criteria Provided Conflicting Classifications	CA6712482	rs_201295052	8 SubmittersRCV000733432 RCV001111899 RCV001084047 RCV001109606 RCV001109607 RCV001109608 RCV001111898
NM_020366.4(RPGRIP1):c.3565C>T (p.Arg1189Ter)	SNV Germline	Chr14:21345145	Pathogenic	Condition: not provided Leber congenital amaurosis 6 Cone-rod dystrophy 13 Cone-rod dystrophy 13 Leber congenital amaurosis 6	Criteria Provided Multiple Submitters No Conflicts	CA7089550	rs_752175052	6 SubmittersRCV000428349 RCV001261193 RCV001800668 RCV001387165
NM_001080442.3(SLC38A8):c.388+5G>A	SNV Germline	Chr16:84036697	Conflicting classifications of pathogenicity	Condition: not provided Leber congenital amaurosis	Criteria Provided Conflicting Classifications	CA8200347	rs_760391436	3 SubmittersRCV000434287 RCV000515654
NM_201253.3(CRB1):c.4030A>G (p.Ile1344Val)	SNV Germline	Chr1:197477688	Conflicting classifications of pathogenicity	Condition: not provided Retinitis pigmentosa 12 Leber congenital amaurosis 8 Leber congenital amaurosis Retinitis pigmentosa 12 Leber congenital amaurosis 8 Pigmented paravenous retinochoroidal atrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1312539	rs_111761880	6 SubmittersRCV000480538 RCV001242630 RCV001828510 RCV003449241 RCV003449242 RCV003449243 RCV005540090
NM_000329.3(RPE65):c.1244C>T (p.Ala415Val)	SNV Germline	Chr1:68431376	Likely pathogenic	Condition: not provided RPE65-related recessive retinopathy Retinitis pigmentosa 20 Retinitis pigmentosa 87 with choroidal involvement Leber congenital amaurosis 2	Reviewed By Expert Panel	CA16617183	rs_1064795255	3 SubmittersRCV000483168 RCV003766693 RCV005398695
NM_025114.4(CEP290):c.4705-1G>T	SNV Germline	Chr12:88083955	Pathogenic/Likely pathogenic	Condition: not provided Nephronophthisis Joubert syndrome Meckel-Gruber syndrome Joubert syndrome 5 Leber congenital amaurosis Bardet-Biedl syndrome 14 CEP290-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA6711875	rs_777464278	5 SubmittersRCV000479832 RCV001060437 RCV001335139 RCV003324527 RCV003470556 RCV004527588
NM_018418.5(SPATA7):c.923G>A (p.Cys308Tyr)	SNV Germline	Chr14:88429358	Conflicting classifications of pathogenicity	Leber congenital amaurosis 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA7298651	rs_138190453	2 SubmittersRCV001085427 RCV000481403
NM_018418.5(SPATA7):c.1238A>G (p.His413Arg)	SNV Germline	Chr14:88437860	Conflicting classifications of pathogenicity	Leber congenital amaurosis 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA7298781	rs_149478294	2 SubmittersRCV001085445 RCV000486342
NM_201253.3(CRB1):c.481G>A (p.Ala161Thr)	SNV Germline	Chr1:197328832	Conflicting classifications of pathogenicity	Condition: not provided Leber congenital amaurosis 8 Retinitis pigmentosa 12 Retinitis pigmentosa 12	Criteria Provided Conflicting Classifications	CA16621582	rs_1064797126	3 SubmittersRCV000488223 RCV001072005 RCV001591128
NM_201253.3(CRB1):c.3086T>A (p.Val1029Glu)	SNV Germline	Chr1:197434949	Conflicting classifications of pathogenicity	Condition: not provided Leber congenital amaurosis	Criteria Provided Conflicting Classifications	CA16621584	rs_1064797128	2 SubmittersRCV000488313 RCV001199680
NM_020366.4(RPGRIP1):c.2368-2A>G	SNV Germline	Chr14:21325829	Pathogenic/Likely pathogenic	Condition: not provided Leber congenital amaurosis Cone-rod dystrophy 13 Leber congenital amaurosis 6	Criteria Provided Multiple Submitters No Conflicts	CA16621652	rs_1064797182	3 SubmittersRCV000487634 RCV001199768 RCV001800704 RCV001800703
NM_014336.5(AIPL1):c.140C>G (p.Thr47Arg)	SNV Germline	Chr17:6434055	Conflicting classifications of pathogenicity	Leber congenital amaurosis 4 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA8328611	rs_150656720	5 SubmittersRCV001081379 RCV000488128 RCV001700132
NM_000180.4(GUCY2D):c.2122T>C (p.Trp708Arg)	SNV Germline	Chr17:8013111	Conflicting classifications of pathogenicity	Condition: not provided Leber congenital amaurosis 1 Cone-rod dystrophy 6	Criteria Provided Conflicting Classifications	CA16621700	rs_1064797217	2 SubmittersRCV000488275 RCV001360599
NM_000554.6(CRX):c.663C>A (p.Tyr221Ter)	SNV Germline	Chr19:47839730	Likely pathogenic	Condition: not provided Leber congenital amaurosis 7 Cone-rod dystrophy 2 Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA16621743	rs_1064797247	3 SubmittersRCV000487650 RCV001865500 RCV001073867
NM_000283.4(PDE6B):c.886G>T (p.Glu296Ter)	SNV Germline	Chr4:654113	Pathogenic/Likely pathogenic	Condition: not provided Leber congenital amaurosis Retinitis pigmentosa 40	Criteria Provided Multiple Submitters No Conflicts	CA16621814	rs_1064797304	2 SubmittersRCV000488380 RCV001199718 RCV001293398
NM_004744.5(LRAT):c.487C>G (p.His163Asp)	SNV Germline	Chr4:154744813	Conflicting classifications of pathogenicity	Condition: not provided Retinitis pigmentosa Leber congenital amaurosis 14	Criteria Provided Conflicting Classifications	CA16621821	rs_1010347467	5 SubmittersRCV000487578 RCV001199703 RCV003155209
NM_201253.3(CRB1):c.2501G>A (p.Gly834Asp)	SNV Germline	Chr1:197427826	Pathogenic/Likely pathogenic	Condition: not provided Leber congenital amaurosis Retinitis pigmentosa 12 Leber congenital amaurosis 8 Leber congenital amaurosis 8 Retinitis pigmentosa 12	Criteria Provided Multiple Submitters No Conflicts	CA344037829	rs_1085307972	4 SubmittersRCV000488946 RCV001834593 RCV003449262 RCV003449263 RCV001851320
NM_201253.3(CRB1):c.2842T>C (p.Cys948Arg)	SNV Germline	Chr1:197429614	Pathogenic	Leber congenital amaurosis Leber congenital amaurosis 8 Leber congenital amaurosis 1 Leber congenital amaurosis 8 Retinitis pigmentosa 12 Pigmented paravenous retinochoroidal atrophy Retinal dystrophy Retinitis pigmentosa 12 CRB1-related disorder Pigmented paravenous retinochoroidal atrophy Leber congenital amaurosis 8 Retinitis pigmentosa 12	Criteria Provided Multiple Submitters No Conflicts	CA344041407	rs_62645747	9 SubmittersRCV000515691 RCV001250609 RCV000986493 RCV001389640 RCV001836643 RCV003987563 RCV003449270 RCV004740266 RCV005010407

NM_001122769.3(LCA5):c.835C>T (p.Gln279Ter)

SNV
Germline

Chr6:79493636

Pathogenic

Leber congenital amaurosis 5
Inborn genetic diseases
Condition: not provided
Retinal dystrophy
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA204615

rs_121918165

16 SubmittersRCV000001019 RCV000190663 RCV000812173 RCV001073263 RCV001003073

NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)

SNV
Germline

Chr12:88077263

Pathogenic/Likely pathogenic

Joubert syndrome 5
Condition: not provided
Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome
Meckel-Gruber syndrome
Retinal dystrophy
Retinitis pigmentosa
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Senior-Loken syndrome 6
Leber congenital amaurosis 10
Joubert syndrome 5
Meckel syndrome, type 6
Leber congenital amaurosis
Meckel syndrome, type 4
Senior-Loken syndrome 6
Joubert syndrome 5
COG7 congenital disorder of glycosylation
Abnormality of the nervous system
Bardet-Biedl syndrome 14
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Senior-Loken syndrome 6
Joubert syndrome 5
Leber congenital amaurosis 10
CEP290-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA150917

rs_137852832

31 SubmittersRCV000001396 RCV000086298 RCV000531295 RCV000114202 RCV001073790 RCV000787813 RCV000515339 RCV001261607 RCV001276487 RCV001000092 RCV001002714 RCV001815157 RCV001836688 RCV001542773 RCV001836689 RCV004798711 RCV003147273

NM_025114.4(CEP290):c.21G>T (p.Trp7Cys)

SNV
Germline

Chr12:88141287

Pathogenic

Joubert syndrome 5
Condition: not provided
Leber congenital amaurosis
Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis

Criteria Provided
Multiple Submitters
No Conflicts

CA227962

rs_62635288

6 SubmittersRCV000001398 RCV000086283 RCV000505111 RCV001851540 RCV001328051

NM_025114.4(CEP290):c.2991+1655A>G

SNV
Germline

Chr12:88101183

Pathogenic/Likely pathogenic

Leber congenital amaurosis 10
Condition: not provided
Retinitis pigmentosa
Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 4
Leber congenital amaurosis 10
Joubert syndrome 5
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Joubert syndrome 1
Retinal dystrophy
Intellectual disability
Joubert syndrome 5
CEP290-related disorder
Leber congenital amaurosis
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA227965

rs_281865192

25 SubmittersRCV000001400 RCV000086286 RCV000678535 RCV000558460 RCV000763315 RCV000988884 RCV001075828 RCV001255341 RCV001196010 RCV001731267 RCV001831503 RCV003460403

NM_025114.4(CEP290):c.2249T>G (p.Leu750Ter)

SNV
Germline

Chr12:88111320

Pathogenic

Leber congenital amaurosis 10
Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA339890

rs_137852833

3 SubmittersRCV000001401 RCV001851541 RCV003466777

NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter)

SNV
Germline

Chr12:88083936

Pathogenic

Joubert syndrome 5
Leber congenital amaurosis 10
Condition: not provided
not specified
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Senior-Loken syndrome 6
Leber congenital amaurosis 10
Joubert syndrome 5
Retinal dystrophy
Blindness
Nystagmus
Central hypotonia
Molar tooth sign on MRI
Senior-Loken syndrome 6
Leber congenital amaurosis
Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome
CEP290-related ciliopathy
Bardet-Biedl syndrome 14
CEP290-related disorder
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA251751

rs_137852834

22 SubmittersRCV000001402 RCV000001403 RCV000484693 RCV000508230 RCV000763312 RCV001075829 RCV000415219 RCV000415120 RCV001002715 RCV001831504 RCV001046610 RCV003492281 RCV003466778 RCV003155008 RCV004975257

NM_025114.4(CEP290):c.613C>T (p.Arg205Ter)

SNV
Germline

Chr12:88130324

Pathogenic

Meckel syndrome, type 4
Polycystic kidney disease
Severe hydrocephalus
Encephalocele
Leber congenital amaurosis
Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome
Leber congenital amaurosis 10
Condition: not provided
Retinal dystrophy
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Senior-Loken syndrome 6
Leber congenital amaurosis 10
Joubert syndrome 5
Bardet-Biedl syndrome 14
CEP290-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA114937

rs_137852835

10 SubmittersRCV000001407 RCV001257362 RCV001274134 RCV001042869 RCV001376372 RCV001781163 RCV003887847 RCV002496228 RCV003466779 RCV004732519

NM_025114.4(CEP290):c.5704G>T (p.Glu1902Ter)

SNV
Germline

Chr12:88077227

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 14
Joubert syndrome 5
Meckel syndrome, type 6
Leber congenital amaurosis 10

Criteria Provided
Multiple Submitters
No Conflicts

CA251753

rs_267606719

4 SubmittersRCV000001410 RCV000201631 RCV001261609 RCV004760315

NM_018418.5(SPATA7):c.322C>T (p.Arg108Ter)

SNV
Germline

Chr14:88416794

Pathogenic/Likely pathogenic

Leber congenital amaurosis 3
SPATA7-related disorder
Condition: not provided
Leber congenital amaurosis
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA339892

rs_80044281

11 SubmittersRCV000001460 RCV000358776 RCV001699098 RCV003987304 RCV004814791

NM_018418.5(SPATA7):c.1183C>T (p.Arg395Ter)

SNV
Germline

Chr14:88437565

Pathogenic/Likely pathogenic

Leber congenital amaurosis 3
Condition: not provided
Retinitis pigmentosa 94, variable age at onset
Leber congenital amaurosis
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA339895

rs_75895925

10 SubmittersRCV000001462 RCV001291573 RCV002260581 RCV003485517 RCV003887848

NM_152443.3(RDH12):c.677A>G (p.Tyr226Cys)

SNV
Germline

Chr14:67729209

Pathogenic/Likely pathogenic

Leber congenital amaurosis 13
Retinal dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA252077

rs_28940313

7 SubmittersRCV000002127 RCV001073384 RCV001092306

NM_152443.3(RDH12):c.565C>T (p.Gln189Ter)

SNV
Germline

Chr14:67727097

Pathogenic

Leber congenital amaurosis 13

Criteria Provided
Single Submitter

CA252078

rs_104894470

2 SubmittersRCV000002129

NM_152443.3(RDH12):c.146C>T (p.Thr49Met)

SNV
Germline

Chr14:67724550

Pathogenic

Leber congenital amaurosis 13
Condition: not provided
Leber congenital amaurosis
Cone-rod dystrophy
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA252080

rs_28940314

15 SubmittersRCV000002130 RCV001091051 RCV001277201 RCV002267718 RCV004814796

NM_152443.3(RDH12):c.184C>T (p.Arg62Ter)

SNV
Germline

Chr14:67724588

Pathogenic

Leber congenital amaurosis 13
Retinal dystrophy
Condition: not provided
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA252081

rs_104894471

18 SubmittersRCV000002131 RCV001075533 RCV001567801 RCV001254729

NM_152443.3(RDH12):c.379G>T (p.Gly127Ter)

SNV
Germline

Chr14:67726086

Pathogenic

Leber congenital amaurosis 13
Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA252083

rs_104894474

7 SubmittersRCV000002132 RCV000787672 RCV001091054 RCV004814797

NM_152443.3(RDH12):c.451C>A (p.His151Asn)

SNV
Germline

Chr14:67726983

Pathogenic

Leber congenital amaurosis 13

No Assertion Criteria Provided

CA252085

rs_104894475

2 SubmittersRCV000002133

NM_152443.3(RDH12):c.688C>G (p.Pro230Ala)

SNV
Germline

Chr14:67729220

Pathogenic

Leber congenital amaurosis 13

No Assertion Criteria Provided

CA252086

rs_104894476

2 SubmittersRCV000002134

NM_152443.3(RDH12):c.451C>G (p.His151Asp)

SNV
Germline

Chr14:67726983

Pathogenic

Leber congenital amaurosis 13
Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA252087

rs_104894475

7 SubmittersRCV000002135 RCV000787674 RCV001171675 RCV004814798

NM_152443.3(RDH12):c.295C>A (p.Leu99Ile)

SNV
Germline

Chr14:67725206

Pathogenic/Likely pathogenic

Leber congenital amaurosis 13
Condition: not provided
Retinitis pigmentosa
Retinal dystrophy
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA252088

rs_28940315

19 SubmittersRCV000002136 RCV000594844 RCV000993758 RCV001075855 RCV001277202

NM_152443.3(RDH12):c.523T>C (p.Ser175Pro)

SNV
Germline

Chr14:67727055

Pathogenic

Leber congenital amaurosis 13

No Assertion Criteria Provided

CA252089

rs_104894472

2 SubmittersRCV000002137

NM_152443.3(RDH12):c.152T>A (p.Ile51Asn)

SNV
Germline

Chr14:67724556

Likely pathogenic

Leber congenital amaurosis 13

Criteria Provided
Single Submitter

CA252090

rs_104894473

3 SubmittersRCV000002138

NM_152443.3(RDH12):c.658+1G>A

SNV
Germline

Chr14:67727191

Pathogenic

Leber congenital amaurosis 13
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA252091

rs_387906272

5 SubmittersRCV000002139 RCV001003155

NM_152443.3(RDH12):c.464C>T (p.Thr155Ile)

SNV
Germline

Chr14:67726996

Pathogenic/Likely pathogenic

Leber congenital amaurosis 13
Condition: not provided
Leber congenital amaurosis
Cone-rod dystrophy
See cases
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA252092

rs_121434337

12 SubmittersRCV000002140 RCV001091055 RCV001826405 RCV003324481 RCV004584306 RCV004814799

NM_152443.3(RDH12):c.377C>T (p.Ala126Val)

SNV
Germline

Chr14:67726084

Pathogenic/Likely pathogenic

Retinitis pigmentosa 53
Retinitis pigmentosa
Retinal dystrophy
Leber congenital amaurosis 13
Condition: not provided
Leber congenital amaurosis
RDH12-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA115315

rs_202126574

11 SubmittersRCV000002142 RCV000132691 RCV001073666 RCV001223788 RCV001558134 RCV003155010 RCV004734494

NM_020366.4(RPGRIP1):c.194G>A (p.Trp65Ter)

SNV
Germline

Chr14:21294785

Pathogenic

Leber congenital amaurosis 6
Leber congenital amaurosis

No Assertion Criteria Provided

CA117158

rs_137853124

2 SubmittersRCV000005271 RCV000787885

NM_014336.5(AIPL1):c.834G>A (p.Trp278Ter)

SNV
Germline

Chr17:6425781

Pathogenic

Leber congenital amaurosis 4
Condition: not provided
AIPL1-related disorder
Leber congenital amaurosis
Retinal dystrophy
Leber congenital amaurosis 4
Retinitis pigmentosa
AIPL1-related retinopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA227899

rs_62637014

30 SubmittersRCV000005906 RCV000086235 RCV000365317 RCV000505017 RCV001074840 RCV002496274 RCV004786238

NM_014336.5(AIPL1):c.715T>C (p.Cys239Arg)

SNV
Germline

Chr17:6426684

Conflicting classifications of pathogenicity

Leber congenital amaurosis 4
Condition: not provided
Leber congenital amaurosis

Criteria Provided
Conflicting Classifications

CA227892

rs_62637012

6 SubmittersRCV000005908 RCV000086231 RCV004585988

NM_201253.3(CRB1):c.3122T>C (p.Met1041Thr)

SNV
Germline

Chr1:197434985

Pathogenic

Retinitis pigmentosa 12
Condition: not provided
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
CRB1-related disorder
Retinal dystrophy
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA228031

rs_62635656

11 SubmittersRCV000006084 RCV000086336 RCV001045972 RCV001250615 RCV003450614 RCV004528086 RCV001075294 RCV005007827

NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys)

SNV
Germline

Chr1:197427615

Pathogenic/Likely pathogenic

Retinitis pigmentosa 12
Condition: not provided
Retinal dystrophy
Leber congenital amaurosis 8
Retinitis pigmentosa
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Macular dystrophy
CRB1-related maculopathy
Retinitis pigmentosa-deafness syndrome
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12
CRB1-related disorder
Pigmented paravenous retinochoroidal atrophy
Cone-rod dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA228006

rs_62635654

25 SubmittersRCV000006086 RCV000086317 RCV001074882 RCV001250604 RCV000787577 RCV001052374 RCV000656137 RCV001352991 RCV003447471 RCV002496279 RCV004540990 RCV003450615 RCV005417417

NM_201253.3(CRB1):c.2234C>T (p.Thr745Met)

SNV
Germline

Chr1:197427559

Pathogenic/Likely pathogenic

Retinitis pigmentosa 12
Condition: not provided
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Retinitis pigmentosa
Leber congenital amaurosis 8
Retinal dystrophy
Autosomal recessive retinitis pigmentosa
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA228003

rs_28939720

25 SubmittersRCV000006087 RCV000086315 RCV000809110 RCV000787576 RCV001250601 RCV001074789 RCV001257864 RCV001196030 RCV001826422 RCV002496280

NM_201253.3(CRB1):c.3299T>G (p.Ile1100Arg)

SNV
Germline

Chr1:197435162

Likely pathogenic

Leber congenital amaurosis 8
Condition: not provided
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA117707

rs_62635659

3 SubmittersRCV000006088 RCV000086340 RCV002490326

NM_201253.3(CRB1):c.3997G>T (p.Glu1333Ter)

SNV
Germline

Chr1:197442284

Pathogenic

Leber congenital amaurosis 8

No Assertion Criteria Provided

CA117708

rs_137853136

1 SubmittersRCV000006089

NM_201253.3(CRB1):c.2401A>T (p.Lys801Ter)

SNV
Germline

Chr1:197427726

Pathogenic

Retinitis pigmentosa 12
Condition: not provided
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Retinal dystrophy
Leber congenital amaurosis 8
Retinitis pigmentosa
Leber congenital amaurosis
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
Pigmented paravenous retinochoroidal atrophy
CRB1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA203531

rs_137853137

16 SubmittersRCV000006090 RCV000578757 RCV000691427 RCV000787826 RCV001250606 RCV000787578 RCV001275651 RCV002504753 RCV003450616 RCV004739293

NM_201253.3(CRB1):c.3541T>C (p.Cys1181Arg)

SNV
Germline

Chr1:197435404

Likely pathogenic

Retinitis pigmentosa 12
Condition: not provided
Retinal dystrophy
Leber congenital amaurosis

Criteria Provided
Single Submitter

CA228041

rs_62636291

4 SubmittersRCV000006091 RCV000086346 RCV004814842 RCV005614367

NM_201253.3(CRB1):c.484G>A (p.Val162Met)

SNV
Germline

Chr1:197328835

Conflicting classifications of pathogenicity

Pigmented paravenous retinochoroidal atrophy
not specified
Retinitis pigmentosa
Leber congenital amaurosis 8
Condition: not provided
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Conflicting Classifications

CA117710

rs_137853138

8 SubmittersRCV000006092 RCV000082821 RCV000353078 RCV000262530 RCV000723716 RCV001080229

NM_201253.3(CRB1):c.3307G>A (p.Gly1103Arg)

SNV
Germline

Chr1:197435170

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Condition: not provided
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis
Retinal dystrophy
Pigmented paravenous retinochoroidal atrophy
Early-onset retinal dystrophy
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA117711

rs_62636275

15 SubmittersRCV000006093 RCV000006094 RCV000086341 RCV000648818 RCV001002998 RCV001073404 RCV003450617 RCV000786009 RCV005007828

NM_000843.4(GRM6):c.1861C>T (p.Arg621Ter)

SNV
Germline

Chr5:178986393

Pathogenic

Congenital stationary night blindness 1B
Condition: not provided
Leber congenital amaurosis
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA117799

rs_62638214

8 SubmittersRCV000006197 RCV000086036 RCV000787608 RCV001074243

NM_003835.4(RGS9):c.895T>C (p.Trp299Arg)

SNV
Germline

Chr17:65197160

Pathogenic

Bradyopsia
Leber congenital amaurosis
Condition: not provided

Criteria Provided
Single Submitter

CA117815

rs_121908449

5 SubmittersRCV000006220 RCV000787876 RCV001052039

NM_003322.6(TULP1):c.1376T>A (p.Ile459Lys)

SNV
Germline

Chr6:35500100

Likely pathogenic

Retinitis pigmentosa 14
Condition: not provided
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA254155

rs_121909075

3 SubmittersRCV000007784 RCV002512878 RCV005406730

NM_003322.6(TULP1):c.1145T>C (p.Phe382Ser)

SNV
Germline

Chr6:35503816

Pathogenic

Retinitis pigmentosa 14
Retinitis pigmentosa
Retinal dystrophy
Condition: not provided
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA254156

rs_121909076

6 SubmittersRCV000007787 RCV000132649 RCV003887856 RCV002512879 RCV005430923

NM_003322.6(TULP1):c.1444C>T (p.Arg482Trp)

SNV
Germline

Chr6:35500032

Conflicting classifications of pathogenicity

Retinitis pigmentosa 14
Condition: not provided
Leber congenital amaurosis

Criteria Provided
Conflicting Classifications

CA254157

rs_121909077

4 SubmittersRCV000007788 RCV001386009 RCV005237358

NM_000554.6(CRX):c.239A>C (p.Glu80Ala)

SNV
Germline

Chr19:47836381

Pathogenic

Cone-rod dystrophy 2
Condition: not provided
Leber congenital amaurosis 7
Cone-rod dystrophy 2

Criteria Provided
Multiple Submitters
No Conflicts

CA118789

rs_104894671

5 SubmittersRCV000007841 RCV000085995 RCV001386170

NM_000554.6(CRX):c.121C>T (p.Arg41Trp)

SNV
Germline

Chr19:47836263

Pathogenic/Likely pathogenic

Cone-rod dystrophy 2
Condition: not provided
Cone-rod dystrophy 2
Leber congenital amaurosis 7
Retinal dystrophy
Cone-rod dystrophy
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA118790

rs_104894672

14 SubmittersRCV000007843 RCV000085989 RCV001386169 RCV001073396 RCV003324484 RCV003324485

NM_000554.6(CRX):c.122G>A (p.Arg41Gln)

SNV
Germline

Chr19:47836264

Pathogenic/Likely pathogenic

Cone-rod dystrophy 2
Condition: not provided
Cone-rod dystrophy 2
Leber congenital amaurosis 7
Retinal dystrophy
CRX-related disorder
Cone-rod dystrophy
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA118791

rs_61748436

11 SubmittersRCV000007846 RCV000085990 RCV001059718 RCV001075469 RCV004755718 RCV005417420 RCV005318310

NM_000554.6(CRX):c.268C>T (p.Arg90Trp)

SNV
Germline

Chr19:47839335

Pathogenic/Likely pathogenic

Leber congenital amaurosis 7
Condition: not provided
Retinal dystrophy
Cone-rod dystrophy 2
Leber congenital amaurosis 7

Criteria Provided
Multiple Submitters
No Conflicts

CA118792

rs_104894673

8 SubmittersRCV000007847 RCV000086364 RCV001074643 RCV001244346

NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp)

SNV
Germline

Chr7:92501562

Pathogenic

Peroxisome biogenesis disorder
Leber congenital amaurosis
Peroxisome biogenesis disorder 1A (Zellweger)
Condition: not provided
Peroxisome biogenesis disorder 1B
Heimler syndrome 1
Peroxisome biogenesis disorder 1B
Peroxisome biogenesis disorder 1A (Zellweger)
Heimler syndrome 1
Peroxisomal disorder
Peroxisome biogenesis disorder 1B
Peroxisome biogenesis disorder 1A (Zellweger)
Retinal dystrophy
Inborn genetic diseases
Zellweger spectrum disorders
not specified
PEX1-related disorder
Peroxisome biogenesis disorder due to PEX1 defect

Criteria Provided
Multiple Submitters
No Conflicts

CA220977

rs_61750420

42 SubmittersRCV000007946 RCV000022416 RCV000032927 RCV000078922 RCV000345695 RCV000661947 RCV000763596 RCV000791271 RCV001004322 RCV001074120 RCV001266794 RCV001376560 RCV001731280 RCV003398462 RCV004786245

NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter)

SNV
Germline

Chr1:94005500

Pathogenic/Likely pathogenic

Retinal dystrophy, early-onset severe
Condition: not provided
Retinal dystrophy
Severe early-childhood-onset retinal dystrophy
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Age related macular degeneration 2
Cone-rod dystrophy 3
Stargardt disease
Retinitis pigmentosa 19
ABCA4-related retinopathy
Leber congenital amaurosis 14
ABCA4-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA119140

rs_61751383

22 SubmittersRCV000008365 RCV000085786 RCV000504794 RCV000505162 RCV000763437 RCV000787773 RCV001542555 RCV002512903 RCV003447472 RCV004528093

NM_001001557.4(GDF6):c.746C>A (p.Ala249Glu)

SNV
Germline

Chr8:96145185

Conflicting classifications of pathogenicity

Klippel-Feil syndrome 1, autosomal dominant
Isolated microphthalmia 4
Leber congenital amaurosis 17
Klippel-Feil syndrome
not specified
Condition: not provided
Klippel-Feil syndrome 1, autosomal dominant
Congenital anomaly of kidney and urinary tract
Isolated microphthalmia 4
Leber congenital amaurosis 17
Klippel-Feil syndrome 1, autosomal dominant
Microphthalmia, isolated, with coloboma 6
Congenital anomaly of kidney and urinary tract
GDF6-related disorder
Isolated microphthalmia 4
Multiple synostoses syndrome 4
Leber congenital amaurosis 17
Klippel-Feil syndrome 1, autosomal dominant
Microphthalmia, isolated, with coloboma 6
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA119555

rs_121909352

13 SubmittersRCV000008876 RCV000008877 RCV000054424 RCV000353571 RCV000428033 RCV000767010 RCV001255226 RCV001522988 RCV001255227 RCV003934812 RCV005400409 RCV004814864

NM_001001557.4(GDF6):c.866T>C (p.Leu289Pro)

SNV
Germline

Chr8:96145065

Conflicting classifications of pathogenicity

Klippel-Feil syndrome 1, autosomal dominant
Condition: not provided
Klippel-Feil syndrome 1, autosomal dominant
Isolated microphthalmia 4
Microphthalmia, isolated, with coloboma 6
Leber congenital amaurosis 17
GDF6-related disorder
Klippel-Feil syndrome 1, autosomal dominant
Isolated microphthalmia 4
Multiple synostoses syndrome 4
Microphthalmia, isolated, with coloboma 6
Leber congenital amaurosis 17

Criteria Provided
Conflicting Classifications

CA119556

rs_63751220

5 SubmittersRCV000008878 RCV000255695 RCV001399723 RCV003952350 RCV005400410

NM_001001557.4(GDF6):c.1271A>G (p.Lys424Arg)

SNV
Germline

Chr8:96144660

Conflicting classifications of pathogenicity

Klippel-Feil syndrome 1, autosomal dominant
Klippel-Feil syndrome
Klippel-Feil syndrome 1, autosomal dominant
Autosomal dominant Parkinson disease 8
Klippel-Feil syndrome 1, autosomal dominant
Isolated microphthalmia 4
Microphthalmia, isolated, with coloboma 6
Leber congenital amaurosis 17
Leber congenital amaurosis 17
Klippel-Feil syndrome 1, autosomal dominant
Isolated microphthalmia 4
Multiple synostoses syndrome 4
Microphthalmia, isolated, with coloboma 6
Leber congenital amaurosis 17

Criteria Provided
Conflicting Classifications

CA119557

rs_121909353

6 SubmittersRCV000008879 RCV000287766 RCV000984889 RCV001429590 RCV003152588 RCV005400411

NM_000180.4(GUCY2D):c.1694T>C (p.Phe565Ser)

SNV
Germline

Chr17:8009531

Pathogenic

Leber congenital amaurosis 1
Condition: not provided
GUCY2D-related recessive retinopathy

Reviewed By Expert Panel

CA226054

rs_61749755

4 SubmittersRCV000009944 RCV000084839 RCV005053885

NM_000180.4(GUCY2D):c.2512C>T (p.Arg838Cys)

SNV
Germline

Chr17:8014700

Pathogenic/Likely pathogenic

Cone-rod dystrophy 6
Condition: not provided
Cone dystrophy
Cone-rod dystrophy 6
Leber congenital amaurosis 1
Retinal dystrophy
Choroidal dystrophy, central areolar, 1
Leber congenital amaurosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA226085

rs_61750172

18 SubmittersRCV000009949 RCV000084862 RCV001003042 RCV001065465 RCV001074299 RCV001197374 RCV001376215

NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His)

SNV
Germline

Chr17:8014701

Pathogenic/Likely pathogenic

Cone-rod dystrophy 6
Condition: not provided
Retinal dystrophy
Progressive cone dystrophy (without rod involvement)
Leber congenital amaurosis 1
Cone-rod dystrophy 6
Cone dystrophy
Retinitis pigmentosa
Macular dystrophy
Visual impairment
Cone-rod dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA226086

rs_61750173

20 SubmittersRCV000009951 RCV000084863 RCV000504851 RCV000787614 RCV001228516 RCV001003043 RCV001723556 RCV001271114 RCV003324497

NM_000329.3(RPE65):c.700C>T (p.Arg234Ter)

SNV
Germline

Chr1:68439586

Pathogenic

Leber congenital amaurosis 2
Condition: not provided
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis
Retinitis pigmentosa 20
RPE65-related recessive retinopathy
Retinal dystrophy

Reviewed By Expert Panel

CA226577

rs_61752895

9 SubmittersRCV000013993 RCV000085219 RCV001236263 RCV001831567 RCV001376448 RCV003460467 RCV004794340

NM_000329.3(RPE65):c.271C>T (p.Arg91Trp)

SNV
Germline

Chr1:68444858

Pathogenic

Retinitis pigmentosa 20
Condition: not provided
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Retinitis pigmentosa
Retinal dystrophy
Leber congenital amaurosis 2
RPE65-related disorder
Leber congenital amaurosis
Retinitis pigmentosa 20
Autosomal recessive retinitis pigmentosa
Leber congenital amaurosis
Abnormality of the eye
RPE65-related recessive retinopathy
Retinitis pigmentosa 87 with choroidal involvement
Leber congenital amaurosis 2
Retinitis pigmentosa 20

Reviewed By Expert Panel

CA226531

rs_61752871

21 SubmittersRCV000013994 RCV000085184 RCV000527143 RCV000787698 RCV001073556 RCV001250682 RCV001095690 RCV001257818 RCV001275337 RCV001813981 RCV004595852 RCV005031436

NM_000329.3(RPE65):c.1355T>G (p.Val452Gly)

SNV
Germline

Chr1:68431160

Likely pathogenic

Retinitis pigmentosa 20
Condition: not provided
Retinitis pigmentosa 20
Leber congenital amaurosis 2
not specified
Retinitis pigmentosa 20
Retinitis pigmentosa 87 with choroidal involvement
Leber congenital amaurosis 2
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA226509

rs_62637004

7 SubmittersRCV000013995 RCV000085169 RCV001304649 RCV003114190 RCV005025051 RCV004801914

NM_000329.3(RPE65):c.1087C>A (p.Pro363Thr)

SNV
Germline

Chr1:68438228

Pathogenic

Retinitis pigmentosa 20
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis 2
RPE65-related recessive retinopathy
Leber congenital amaurosis
Retinitis pigmentosa 20
Retinitis pigmentosa 87 with choroidal involvement
Leber congenital amaurosis 2

Reviewed By Expert Panel

CA256730

rs_121917744

9 SubmittersRCV000013996 RCV000815732 RCV001250693 RCV003460468 RCV001826460 RCV005025052

NM_000329.3(RPE65):c.1022T>C (p.Leu341Ser)

SNV
Germline

Chr1:68438293

Pathogenic

Retinitis pigmentosa 20
Condition: not provided
Leber congenital amaurosis 2
RPE65-related recessive retinopathy
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis
Retinal dystrophy
Retinitis pigmentosa 87 with choroidal involvement
Retinitis pigmentosa 20
Leber congenital amaurosis 2

Reviewed By Expert Panel

CA226472

rs_61752909

15 SubmittersRCV000013997 RCV000085141 RCV000986328 RCV003764564 RCV001047062 RCV001831568 RCV004814898 RCV002496352

NM_000329.3(RPE65):c.1543C>T (p.Arg515Trp)

SNV
Germline

Chr1:68429835

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2
Condition: not provided
Retinitis pigmentosa
Leber congenital amaurosis
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Retinal dystrophy
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA226519

rs_121917745

11 SubmittersRCV000013999 RCV000014000 RCV000085176 RCV000132583 RCV001826461 RCV000816506 RCV003887868 RCV003764565

NM_001164688.2(RD3):c.296+1G>A

SNV
Germline

Chr1:211481119

Pathogenic

Leber congenital amaurosis 12

No Assertion Criteria Provided

CA341252

rs_386834260

2 SubmittersRCV000014001

NM_000322.5(PRPH2):c.554T>C (p.Leu185Pro)

SNV
Germline

Chr6:42721781

Pathogenic/Likely pathogenic

Retinitis pigmentosa 7, digenic
Condition: not provided
Leber congenital amaurosis 18
Patterned macular dystrophy 1
Retinal dystrophy
Patterned dystrophy of the retinal pigment epithelium
PRPH2-related disorder
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA122928

rs_121918563

8 SubmittersRCV000014051 RCV000084987 RCV000149464 RCV000149466 RCV001075516 RCV001250378 RCV001378481 RCV001530305

NM_000883.4(IMPDH1):c.568C>T (p.Arg190Trp)

SNV
Germline

Chr7:128400828

Conflicting classifications of pathogenicity

Leber congenital amaurosis 11
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA124376

rs_121912553

6 SubmittersRCV000015962 RCV000951177 RCV003887873

NM_000883.4(IMPDH1):c.849T>G (p.Asn283Lys)

SNV
Germline

Chr7:128400120

Pathogenic

Leber congenital amaurosis 11

No Assertion Criteria Provided

CA124382

rs_121912554

1 SubmittersRCV000015963

NM_000180.4(GUCY2D):c.2512C>A (p.Arg838Ser)

SNV
Germline

Chr17:8014700

Pathogenic

Condition: not provided
Cone-rod dystrophy 6
Leber congenital amaurosis 1

Criteria Provided
Single Submitter

CA226083

rs_61750172

2 SubmittersRCV000084861 RCV001854486

NM_000329.3(RPE65):c.1102T>C (p.Tyr368His)

SNV
Germline

Chr1:68438213

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2
Condition: not provided
Retinitis pigmentosa
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis
RPE65-related disorder
Retinal dystrophy
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Retinitis pigmentosa 87 with choroidal involvement
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA226484

rs_62653011

16 SubmittersRCV000022749 RCV000022750 RCV000085150 RCV000787920 RCV001054423 RCV001275328 RCV000348257 RCV004814916 RCV005025077 RCV003764626

NM_000329.3(RPE65):c.907A>T (p.Lys303Ter)

SNV
Germline

Chr1:68439033

Pathogenic

Leber congenital amaurosis 2
Condition: not provided
RPE65-related recessive retinopathy
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Retinitis pigmentosa 87 with choroidal involvement
Leber congenital amaurosis 2
Retinitis pigmentosa 20

Reviewed By Expert Panel

CA226589

rs_61752904

7 SubmittersRCV000022753 RCV000085231 RCV003764627 RCV002490403 RCV002513174

NM_000329.3(RPE65):c.1292A>G (p.Tyr431Cys)

SNV
Germline

Chr1:68431328

Likely pathogenic

Leber congenital amaurosis 2
Condition: not provided
Leber congenital amaurosis 2
Retinitis pigmentosa 20
RPE65-related recessive retinopathy
RPE65-related disorder
Leber congenital amaurosis

Reviewed By Expert Panel

CA226500

rs_62636300

8 SubmittersRCV000022754 RCV000085161 RCV001054426 RCV003764628 RCV004732553 RCV003317042

NM_003322.6(TULP1):c.1204G>T (p.Glu402Ter)

SNV
Germline

Chr6:35503757

Pathogenic

Leber congenital amaurosis 15

No Assertion Criteria Provided

CA259772

rs_387906835

2 SubmittersRCV000023187

NM_003322.6(TULP1):c.1198C>T (p.Arg400Trp)

SNV
Germline

Chr6:35503763

Pathogenic/Likely pathogenic

Leber congenital amaurosis 15
Retinal degeneration
Polydactyly, postaxial, type A1
Syndactyly
Brachydactyly
Retinal dystrophy
Condition: not provided
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA259774

rs_387906836

6 SubmittersRCV000023188 RCV000852373 RCV004814918 RCV003556074 RCV005430941

NM_003322.6(TULP1):c.1102G>T (p.Gly368Trp)

SNV
Germline

Chr6:35505751

Pathogenic/Likely pathogenic

Leber congenital amaurosis 15
Condition: not provided
Leber congenital amaurosis
Retinal dystrophy
Retinitis pigmentosa 14
Leber congenital amaurosis 15

Criteria Provided
Multiple Submitters
No Conflicts

CA259775

rs_387906837

6 SubmittersRCV000023189 RCV001857359 RCV004586021 RCV004814919 RCV005042082

NM_002242.4(KCNJ13):c.496C>T (p.Arg166Ter)

SNV
Germline

Chr2:232768778

Pathogenic

Leber congenital amaurosis 16

No Assertion Criteria Provided

CA259778

rs_387906858

2 SubmittersRCV000023266

NM_002242.4(KCNJ13):c.722T>C (p.Leu241Pro)

SNV
Germline

Chr2:232768552

Pathogenic

Leber congenital amaurosis 16

No Assertion Criteria Provided

CA259781

rs_143607153

1 SubmittersRCV000023267

NM_001023570.4(IQCB1):c.1036G>T (p.Glu346Ter)

SNV
Germline

Chr3:121790166

Pathogenic

Senior-Loken syndrome 5
Leber congenital amaurosis
Nephronophthisis

Criteria Provided
Multiple Submitters
No Conflicts

CA129461

rs_387907009

6 SubmittersRCV000023758 RCV000504719 RCV000462160

NM_018418.5(SPATA7):c.253C>T (p.Arg85Ter)

SNV
Germline

Chr14:88416725

Pathogenic/Likely pathogenic

Leber congenital amaurosis 3
SPATA7-related disorder
Retinal dystrophy
Retinitis pigmentosa 94, variable age at onset
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA259907

rs_140287375

10 SubmittersRCV000023791 RCV000778417 RCV001075501 RCV002260600 RCV002251427

NM_022787.4(NMNAT1):c.838T>C (p.Ter280Gln)

SNV
Germline

Chr1:9982699

Pathogenic

Leber congenital amaurosis 9

No Assertion Criteria Provided

CA260588

rs_387907290

1 SubmittersRCV000030763

NM_022787.4(NMNAT1):c.619C>T (p.Arg207Trp)

SNV
Germline

Chr1:9982480

Pathogenic

Leber congenital amaurosis 9
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA260590

rs_142968179

9 SubmittersRCV000030764 RCV001090803 RCV004794346

NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys)

SNV
Germline

Chr1:9982630

Pathogenic/Likely pathogenic

Leber congenital amaurosis 9
Condition: not provided
Leber congenital amaurosis
7 conditions
Retinal dystrophy
NMNAT1-related disorder
Inborn genetic diseases
Leber congenital amaurosis 9
Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis
Cone-rod dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA342906

rs_150726175

19 SubmittersRCV000030765 RCV000255806 RCV000504859 RCV001003567 RCV001075816 RCV004757953 RCV004639123 RCV005394179 RCV005624712

NM_022787.4(NMNAT1):c.817A>G (p.Asn273Asp)

SNV
Germline

Chr1:9982678

Pathogenic

Leber congenital amaurosis 9

No Assertion Criteria Provided

CA260592

rs_387907291

1 SubmittersRCV000030766

NM_022787.4(NMNAT1):c.710G>T (p.Arg237Leu)

SNV
Germline

Chr1:9982571

Pathogenic

Leber congenital amaurosis 9

No Assertion Criteria Provided

CA260596

rs_368062092

1 SubmittersRCV000030769

NM_022787.4(NMNAT1):c.457C>G (p.Leu153Val)

SNV
Germline

Chr1:9982318

Pathogenic

Leber congenital amaurosis 9

No Assertion Criteria Provided

CA260598

rs_387907293

1 SubmittersRCV000030770

NM_022787.4(NMNAT1):c.25G>A (p.Val9Met)

SNV
Germline

Chr1:9972098

Pathogenic

Leber congenital amaurosis 9
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA260600

rs_387907294

3 SubmittersRCV000030771 RCV004794347

NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr)

SNV
Germline

Chr1:197434706

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Condition: not provided
Retinal dystrophy
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis
Cone dystrophy
Hereditary macular dystrophy
Retinitis pigmentosa
CRB1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA228022

rs_62645748

31 SubmittersRCV000032814 RCV000032815 RCV000086331 RCV000505155 RCV000762874 RCV001097540 RCV000554663 RCV001275657 RCV003324500 RCV005357245 RCV000787579 RCV003313928

NM_017777.4(MKS1):c.958G>A (p.Val320Ile)

SNV
Germline

Chr17:58210980

Conflicting classifications of pathogenicity

Meckel syndrome, type 1
Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
Bardet-Biedl syndrome 13
Leber congenital amaurosis 6
Meckel syndrome, type 1
Bardet-Biedl syndrome 13
Joubert syndrome 28
Meckel syndrome, type 1

Criteria Provided
Conflicting Classifications

CA344764

rs_386834053

7 SubmittersRCV000050040 RCV000735097 RCV001853066 RCV003474638 RCV000735871 RCV005025107

NM_025114.4(CEP290):c.1984C>T (p.Gln662Ter)

SNV
Germline

Chr12:88114488

Pathogenic

Meckel syndrome, type 4
Joubert syndrome 5
Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Leber congenital amaurosis
Retinitis pigmentosa
Leber congenital amaurosis 10
Condition: not provided
Senior-Loken syndrome 6
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Joubert syndrome 5
Bardet-Biedl syndrome 14
CEP290-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA144389

rs_386834152

11 SubmittersRCV000050146 RCV000201755 RCV000685655 RCV000787559 RCV000787812 RCV001376367 RCV002285263 RCV002504949 RCV003460645 RCV004732641

NM_025114.4(CEP290):c.289G>T (p.Glu97Ter)

SNV
Germline

Chr12:88139153

Pathogenic/Likely pathogenic

Meckel syndrome, type 4
Condition: not provided
Leber congenital amaurosis
Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome 5
Retinal dystrophy
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA144391

rs_386834153

10 SubmittersRCV000050147 RCV001091341 RCV001274137 RCV001053674 RCV004760362 RCV004814991 RCV003466923

NM_001001557.4(GDF6):c.876G>Y (p.Glu292Asp)

SNV
Germline

Chr8:96145055

Pathogenic

Leber congenital amaurosis 17

No Assertion Criteria Provided

rs_1401531865

1 SubmittersRCV000054425

NM_001001557.4(GDF6):c.169G>C (p.Asp57His)

SNV
Germline

Chr8:96160524

Conflicting classifications of pathogenicity

Leber congenital amaurosis 17
Isolated microphthalmia 4
Microphthalmia, isolated, with coloboma 6
Klippel-Feil syndrome 1, autosomal dominant
Leber congenital amaurosis 17
Klippel-Feil syndrome 1, autosomal dominant
Condition: not provided
GDF6-related disorder

Criteria Provided
Conflicting Classifications

CA210821

rs_397514725

5 SubmittersRCV000054426 RCV001853075 RCV001337031 RCV001753472 RCV004757958

NM_014336.5(AIPL1):c.589G>C (p.Ala197Pro)

SNV
Germline

Chr17:6426934

Pathogenic

Leber congenital amaurosis 4
Condition: not provided
Leber congenital amaurosis

Criteria Provided
Single Submitter

CA227886

rs_62637010

4 SubmittersRCV000055939 RCV000086228 RCV005430958

NM_014336.5(AIPL1):c.784G>A (p.Gly262Ser)

SNV
Germline

Chr17:6426615

Pathogenic/Likely pathogenic

Leber congenital amaurosis 4
Condition: not provided
AIPL1-related disorder
AIPL1-related disorder
Leber congenital amaurosis 4
CONE-ROD DYSTROPHY, AIPL1-RELATED
Juvenile retinitis pigmentosa, AIPL1-related

Criteria Provided
Multiple Submitters
No Conflicts

CA227897

rs_142326926

6 SubmittersRCV000055941 RCV000086234 RCV004732645 RCV005625259

NM_014336.5(AIPL1):c.905G>T (p.Arg302Leu)

SNV
Germline

Chr17:6425710

Conflicting classifications of pathogenicity

Leber congenital amaurosis 4
Condition: not provided
not specified
Leber congenital amaurosis 1
AIPL1-related disorder

Criteria Provided
Conflicting Classifications

CA203310

rs_62637015

12 SubmittersRCV000055942 RCV000086236 RCV000179479 RCV000989684 RCV004537253

NM_201253.3(CRB1):c.1913C>T (p.Ser638Leu)

SNV
Germline

Chr1:197421741

Pathogenic/Likely pathogenic

Retinal dystrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA1311998

rs_267598278

4 SubmittersRCV000505040 RCV001854256 RCV004566911

NM_014336.5(AIPL1):c.244C>T (p.His82Tyr)

SNV
Germline

Chr17:6433951

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Leber congenital amaurosis 4
Retinal dystrophy
AIPL1-related disorder

Criteria Provided
Conflicting Classifications

CA223111

rs_144822294

5 SubmittersRCV000081612 RCV001125500 RCV001125501 RCV004815007 RCV004732656

NM_014336.5(AIPL1):c.267C>T (p.Cys89=)

SNV
Germline

Chr17:6433928

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis Pigmentosa, Dominant
not specified
Retinitis Pigmentosa, Recessive
Leber congenital amaurosis 4
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA223113

rs_62653020

9 SubmittersRCV000081613 RCV000345097 RCV000259077 RCV000306547 RCV001080955 RCV004815008

NM_014336.5(AIPL1):c.516T>C (p.His172=)

SNV
Germline

Chr17:6427007

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis Pigmentosa, Recessive
Retinitis pigmentosa
not specified
Leber congenital amaurosis 4
AIPL1-related disorder
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA223115

rs_62637017

10 SubmittersRCV000081614 RCV000311702 RCV000371077 RCV001001388 RCV001086330 RCV004542792 RCV004815009

NM_018418.5(SPATA7):c.729C>T (p.Arg243=)

SNV
Germline

Chr14:88426588

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa
Leber congenital amaurosis 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA223536

rs_151338404

6 SubmittersRCV000081956 RCV000327877 RCV000952079 RCV001699118

NM_020366.4(RPGRIP1):c.2555G>A (p.Arg852Gln)

SNV
Germline

Chr14:21326018

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cone-rod dystrophy 13
Leber congenital amaurosis 6
Leber congenital amaurosis 6
Cone-rod dystrophy 13
Retinal dystrophy
Optic atrophy

Criteria Provided
Conflicting Classifications

CA223562

rs_181758389

7 SubmittersRCV000082000 RCV001002311 RCV001111273 RCV001111274 RCV001513784 RCV004815013 RCV004815014

NM_020366.4(RPGRIP1):c.2775G>A (p.Trp925Ter)

SNV
Germline

Chr14:21327687

Pathogenic

Condition: not provided
Leber congenital amaurosis
Leber congenital amaurosis 6
Cone-rod dystrophy 13
Cone-rod dystrophy 13
Leber congenital amaurosis 6

Criteria Provided
Multiple Submitters
No Conflicts

CA223564

rs_398124354

4 SubmittersRCV000082001 RCV000710048 RCV001800386 RCV001800387 RCV001857395

NM_020366.4(RPGRIP1):c.3414C>T (p.Asn1138=)

SNV
Germline

Chr14:21343110

Conflicting classifications of pathogenicity

Condition: not provided
Cone-rod dystrophy 13
Leber congenital amaurosis 6

Criteria Provided
Conflicting Classifications

CA223566

rs_398124355

2 SubmittersRCV000082002 RCV002055216

NM_020366.4(RPGRIP1):c.783G>A (p.Gln261=)

SNV
Germline

Chr14:21303526

Conflicting classifications of pathogenicity

Condition: not provided
Cone-rod dystrophy 13
Leber congenital amaurosis 6

Criteria Provided
Conflicting Classifications

CA223570

rs_398124356

2 SubmittersRCV000082004 RCV002055217

NM_025114.4(CEP290):c.4237G>C (p.Asp1413His)

SNV
Germline

Chr12:88086456

Conflicting classifications of pathogenicity

not specified
Leber congenital amaurosis 10
Joubert syndrome 5
Senior-Loken syndrome 6
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Condition: not provided
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Leber congenital amaurosis
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA149314

rs_183655276

11 SubmittersRCV000082249 RCV000307654 RCV000351974 RCV000366483 RCV000402012 RCV000408211 RCV000442189 RCV001082252 RCV001273070 RCV004528298

NM_000180.4(GUCY2D):c.1052A>G (p.Tyr351Cys)

SNV
Germline

Chr17:8006388

Likely pathogenic

Condition: not provided
Leber congenital amaurosis
Leber congenital amaurosis 1
Cone-rod dystrophy 6
Leber congenital amaurosis 1
GUCY2D-related recessive retinopathy

Reviewed By Expert Panel

CA226036

rs_61749676

5 SubmittersRCV000084827 RCV003398694 RCV001250829 RCV001377421 RCV005053888

NM_000180.4(GUCY2D):c.1343C>A (p.Ser448Ter)

SNV
Germline

Chr17:8006679

Pathogenic

Condition: not provided
Cone-rod dystrophy 6
Cone-rod dystrophy 6
Leber congenital amaurosis 1
Leber congenital amaurosis 1
Cone-rod dystrophy 6
Leber congenital amaurosis 1
Choroidal dystrophy, central areolar, 1
Night blindness, congenital stationary, type1i
GUCY2D-related recessive retinopathy
Retinal dystrophy

Reviewed By Expert Panel

CA226043

rs_61749679

9 SubmittersRCV000084831 RCV000989737 RCV001037164 RCV001250830 RCV005025142 RCV005053890 RCV004815022

NM_000180.4(GUCY2D):c.1537C>T (p.Leu513Phe)

SNV
Germline

Chr17:8007499

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cone-rod dystrophy 6
Leber congenital amaurosis 1

Criteria Provided
Conflicting Classifications

CA226047

rs_61749682

5 SubmittersRCV000084834 RCV000356487 RCV001084922

NM_000180.4(GUCY2D):c.1566+2T>C

SNV
Germline

Chr17:8007530

Pathogenic

Condition: not provided
Leber congenital amaurosis 1

No Assertion Criteria Provided

CA226049

rs_61749683

2 SubmittersRCV000084836 RCV001250861

NM_000180.4(GUCY2D):c.1956+2T>A

SNV
Germline

Chr17:8012352

Likely pathogenic

Condition: not provided
Leber congenital amaurosis 1

Criteria Provided
Single Submitter

CA226057

rs_61749758

3 SubmittersRCV000084843 RCV000761437

NM_000180.4(GUCY2D):c.1957-1G>T

SNV
Germline

Chr17:8012449

Pathogenic

Condition: not provided
Leber congenital amaurosis 1

No Assertion Criteria Provided

CA226059

rs_61749759

2 SubmittersRCV000084845 RCV001250862

NM_000180.4(GUCY2D):c.1978C>T (p.Arg660Ter)

SNV
Germline

Chr17:8012471

Pathogenic

Condition: not provided
Leber congenital amaurosis 1
Cone-rod dystrophy 6
Leber congenital amaurosis 1
Retinal dystrophy
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA226062

rs_61750161

5 SubmittersRCV000084847 RCV001250870 RCV001047937 RCV004815024 RCV005055574

NM_000180.4(GUCY2D):c.2302C>T (p.Arg768Trp)

SNV
Germline

Chr17:8013918

Pathogenic

Condition: not provided
Leber congenital amaurosis 1
Cone-rod dystrophy 6
Leber congenital amaurosis 1
Leber congenital amaurosis
Night blindness, congenital stationary, type1i
Retinal dystrophy
GUCY2D-related disorder
GUCY2D-related recessive retinopathy
Cone-rod dystrophy 6
Leber congenital amaurosis 1
Choroidal dystrophy, central areolar, 1
Night blindness, congenital stationary, type1i

Reviewed By Expert Panel

CA226075

rs_61750168

17 SubmittersRCV000084856 RCV000850093 RCV000543628 RCV000787613 RCV000850094 RCV001075745 RCV004748575 RCV005053896 RCV002477250

NM_000180.4(GUCY2D):c.2800G>C (p.Ala934Pro)

SNV
Germline

Chr17:8015358

Likely pathogenic

Condition: not provided
Leber congenital amaurosis 1

No Assertion Criteria Provided

CA226097

rs_61750179

2 SubmittersRCV000084870 RCV001250847

NM_000180.4(GUCY2D):c.2861T>C (p.Leu954Pro)

SNV
Germline

Chr17:8015419

Conflicting classifications of pathogenicity

Condition: not provided
Retinal dystrophy
Leber congenital amaurosis 1
Cone-rod dystrophy 6
Leber congenital amaurosis

Criteria Provided
Conflicting Classifications

CA226103

rs_61750182

4 SubmittersRCV000084873 RCV001075835 RCV002514512 RCV005237529

NM_000180.4(GUCY2D):c.2927G>T (p.Arg976Leu)

SNV
Germline

Chr17:8015485

Likely pathogenic

Condition: not provided
Cone-rod dystrophy 6
Leber congenital amaurosis 1
Choroidal dystrophy, central areolar, 1
GUCY2D-related recessive retinopathy

Reviewed By Expert Panel

CA226107

rs_61750184

4 SubmittersRCV000084876 RCV000714548 RCV000714549 RCV000714550 RCV005053897

NM_000180.4(GUCY2D):c.2983C>T (p.Arg995Trp)

SNV
Germline

Chr17:8015781

Likely pathogenic

Condition: not provided
Leber congenital amaurosis 1
GUCY2D-related recessive retinopathy

Reviewed By Expert Panel

CA226112

rs_61750187

5 SubmittersRCV000084879 RCV001250866 RCV005053899

NM_000180.4(GUCY2D):c.2T>A (p.Met1Lys)

SNV
Germline

Chr17:8003049

Pathogenic

Condition: not provided
Leber congenital amaurosis 1

No Assertion Criteria Provided

CA226114

rs_281865408

2 SubmittersRCV000084880 RCV001250811

NM_000180.4(GUCY2D):c.3025A>T (p.Met1009Leu)

SNV
Germline

Chr17:8015823

Likely pathogenic

Condition: not provided
Leber congenital amaurosis 1

No Assertion Criteria Provided

CA226116

rs_61750188

2 SubmittersRCV000084881 RCV001250853

NM_000180.4(GUCY2D):c.3043+4A>T

SNV
Germline

Chr17:8015845

Likely pathogenic

Condition: not provided
Leber congenital amaurosis 1

No Assertion Criteria Provided

CA226118

rs_61750189

2 SubmittersRCV000084882 RCV001250855

NM_000180.4(GUCY2D):c.307G>A (p.Glu103Lys)

SNV
Germline

Chr17:8003354

Likely pathogenic

Condition: not provided
Cone dystrophy
Cone-rod dystrophy 6
Leber congenital amaurosis 1
Leber congenital amaurosis 1
Leber congenital amaurosis
Choroidal dystrophy, central areolar, 1
Cone-rod dystrophy 6
Leber congenital amaurosis 1
Night blindness, congenital stationary, type1i
GUCY2D-related recessive retinopathy

Reviewed By Expert Panel

CA226122

rs_61749668

11 SubmittersRCV000084885 RCV000505073 RCV001053255 RCV001250822 RCV004689453 RCV005016379 RCV005053900

NM_000180.4(GUCY2D):c.3118C>T (p.Arg1040Ter)

SNV
Germline

Chr17:8016001

Pathogenic

Condition: not provided
Leber congenital amaurosis 1
Cone-rod dystrophy 6
Leber congenital amaurosis 1

Criteria Provided
Single Submitter

CA226130

rs_61750194

3 SubmittersRCV000084889 RCV002514513 RCV001250858

NM_000180.4(GUCY2D):c.387C>A (p.Asn129Lys)

SNV
Germline

Chr17:8003434

Likely pathogenic

Condition: not provided
Leber congenital amaurosis 1

No Assertion Criteria Provided

CA226141

rs_63340060

2 SubmittersRCV000084896 RCV001250823

NM_000180.4(GUCY2D):c.3G>A (p.Met1Ile)

SNV
Germline

Chr17:8003050

Pathogenic

Condition: not provided
Leber congenital amaurosis 1
GUCY2D-related recessive retinopathy

Reviewed By Expert Panel

CA226144

rs_281865409

3 SubmittersRCV000084898 RCV001250813 RCV005053902

NM_000180.4(GUCY2D):c.3G>C (p.Met1Ile)

SNV
Germline

Chr17:8003050

Pathogenic

Condition: not provided
Leber congenital amaurosis 1
Cone-rod dystrophy 6
Leber congenital amaurosis 1

Criteria Provided
Single Submitter

CA226146

rs_281865409

3 SubmittersRCV000084899 RCV001250812 RCV001388964

NM_000180.4(GUCY2D):c.935C>T (p.Thr312Met)

SNV
Germline

Chr17:8004065

Likely pathogenic

Condition: not provided
Leber congenital amaurosis 1
Cone-rod dystrophy 6
Leber congenital amaurosis 1
GUCY2D-related recessive retinopathy

Reviewed By Expert Panel

CA226155

rs_61749673

6 SubmittersRCV000084906 RCV001250818 RCV003764783 RCV005053904

NM_000180.4(GUCY2D):c.937C>T (p.Arg313Cys)

SNV
Germline

Chr17:8004067

Likely pathogenic

Condition: not provided
Leber congenital amaurosis 1
Cone-rod dystrophy 6
Leber congenital amaurosis 1
GUCY2D-related recessive retinopathy

Reviewed By Expert Panel

CA226156

rs_61749674

5 SubmittersRCV000084907 RCV001250827 RCV001306870 RCV005053905

NM_000322.5(PRPH2):c.637T>C (p.Cys213Arg)

SNV
Germline

Chr6:42704556

Pathogenic

Condition: not provided
Patterned macular dystrophy 1
Leber congenital amaurosis 18
PRPH2-related disorder

Criteria Provided
Single Submitter

CA174960

rs_61755802

4 SubmittersRCV000085002 RCV000149468 RCV000149469 RCV001854492

NM_000329.3(RPE65):c.1078G>C (p.Ala360Pro)

SNV
Germline

Chr1:68438237

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 20
Leber congenital amaurosis 2
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA226480

rs_62646883

3 SubmittersRCV000085147 RCV001854496 RCV004801916

NM_000329.3(RPE65):c.11+5G>A

SNV
Germline

Chr1:68449890

Pathogenic

Leber congenital amaurosis 2
Condition: not provided
Retinal dystrophy
Leber congenital amaurosis
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Retinitis pigmentosa 87 with choroidal involvement
RPE65-related recessive retinopathy
RPE65-related disorder
Inborn genetic diseases

Reviewed By Expert Panel

CA226483

rs_61751276

24 SubmittersRCV000022752 RCV000085149 RCV000505050 RCV001275342 RCV000524808 RCV000678614 RCV002498448 RCV003460766 RCV004732661 RCV004955275

NM_000329.3(RPE65):c.118G>A (p.Gly40Ser)

SNV
Germline

Chr1:68446837

Pathogenic

Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis
Leber congenital amaurosis 2
Retinal dystrophy
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Retinitis pigmentosa 87 with choroidal involvement
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA226491

rs_61751281

11 SubmittersRCV000085155 RCV000132582 RCV001047503 RCV001275340 RCV001250675 RCV001074416 RCV002498450 RCV004527312

NM_000329.3(RPE65):c.1223T>C (p.Leu408Pro)

SNV
Germline

Chr1:68431491

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis 2
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA226497

rs_62636298

5 SubmittersRCV000085159 RCV001041992 RCV001089894 RCV002509207

NM_000329.3(RPE65):c.1249G>C (p.Glu417Gln)

SNV
Germline

Chr1:68431371

Likely pathogenic

Condition: not provided
Retinal dystrophy
Leber congenital amaurosis
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis 2
RPE65-related recessive retinopathy
Inborn genetic diseases
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Retinitis pigmentosa 87 with choroidal involvement

Reviewed By Expert Panel

CA226499

rs_62636299

8 SubmittersRCV000085160 RCV001074061 RCV004767068 RCV001323215 RCV003466997 RCV003764786 RCV004955276 RCV005025143

NM_000329.3(RPE65):c.131G>A (p.Arg44Gln)

SNV
Germline

Chr1:68446824

Pathogenic

Condition: not provided
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis
Retinitis pigmentosa 20
Autosomal recessive retinitis pigmentosa
RPE65-related disorder
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA226506

rs_61751282

9 SubmittersRCV000085166 RCV000701390 RCV001250676 RCV001275338 RCV001808321 RCV001257816 RCV004528783 RCV005620901

NM_000329.3(RPE65):c.1384G>T (p.Glu462Ter)

SNV
Germline

Chr1:68431131

Pathogenic/Likely pathogenic

Condition: not provided
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Retinitis pigmentosa 20

Criteria Provided
Multiple Submitters
No Conflicts

CA226513

rs_62637006

6 SubmittersRCV000085172 RCV001250694 RCV002513922 RCV001376503

NM_000329.3(RPE65):c.1418T>A (p.Val473Asp)

SNV
Germline

Chr1:68431097

Likely pathogenic

Condition: not provided
Leber congenital amaurosis 2
RPE65-related recessive retinopathy
Retinitis pigmentosa 20

Reviewed By Expert Panel

CA226515

rs_62637007

6 SubmittersRCV000085173 RCV001250706 RCV003764787 RCV004786365

NM_000329.3(RPE65):c.1451G>A (p.Gly484Asp)

SNV
Germline

Chr1:68429927

Likely pathogenic

Condition: not provided
Leber congenital amaurosis 2
Leber congenital amaurosis
Retinitis pigmentosa 20
Leber congenital amaurosis 2
RPE65-related recessive retinopathy
Retinitis pigmentosa 20
Retinitis pigmentosa 87 with choroidal involvement
Leber congenital amaurosis 2

Reviewed By Expert Panel

CA226517

rs_62653015

11 SubmittersRCV000085175 RCV001250703 RCV001826773 RCV001854497 RCV003764788 RCV005025144

NM_000329.3(RPE65):c.202C>T (p.His68Tyr)

SNV
Germline

Chr1:68446753

Pathogenic

Condition: not provided
Leber congenital amaurosis 2
Leber congenital amaurosis
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA226523

rs_61752866

4 SubmittersRCV000085179 RCV003466999 RCV005237530 RCV005425724

NM_000329.3(RPE65):c.235T>C (p.Tyr79His)

SNV
Germline

Chr1:68446720

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 20
Leber congenital amaurosis 2
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA226528

rs_61752869

3 SubmittersRCV000085182 RCV003764790 RCV004801917

NM_000329.3(RPE65):c.272G>A (p.Arg91Gln)

SNV
Germline

Chr1:68444857

Pathogenic

Condition: not provided
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis
Retinitis pigmentosa
RPE65-related recessive retinopathy
Inborn genetic diseases
Retinal dystrophy
Retinitis pigmentosa 20
Retinitis pigmentosa 87 with choroidal involvement
Leber congenital amaurosis 2

Reviewed By Expert Panel

CA226533

rs_61752873

12 SubmittersRCV000085186 RCV002247485 RCV001061074 RCV001275336 RCV001731373 RCV003764791 RCV003242980 RCV004815048 RCV005031578

NM_000329.3(RPE65):c.272G>C (p.Arg91Pro)

SNV
Germline

Chr1:68444857

Likely pathogenic

Condition: not provided
Leber congenital amaurosis 2
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA226534

rs_61752873

3 SubmittersRCV000085187 RCV001250683 RCV005425725

NM_000329.3(RPE65):c.2T>C (p.Met1Thr)

SNV
Germline

Chr1:68449904

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Retinal dystrophy
Leber congenital amaurosis
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Retinitis pigmentosa 87 with choroidal involvement

Criteria Provided
Multiple Submitters
No Conflicts

CA226537

rs_281865285

6 SubmittersRCV000085190 RCV001376504 RCV001377675 RCV004815049 RCV005606645 RCV005025145

NM_000329.3(RPE65):c.304G>A (p.Glu102Lys)

SNV
Germline

Chr1:68444825

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Retinitis pigmentosa 87 with choroidal involvement

Criteria Provided
Single Submitter

CA226539

rs_62642584

2 SubmittersRCV000085191 RCV005031580

NM_000329.3(RPE65):c.304G>T (p.Glu102Ter)

SNV
Germline

Chr1:68444825

Pathogenic

Condition: not provided
RPE65-related disorder
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis 2
Leber congenital amaurosis
Retinal dystrophy
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA226540

rs_62642584

11 SubmittersRCV000085192 RCV001249229 RCV000763389 RCV003467000 RCV001275333 RCV004815050 RCV003764793

NM_000329.3(RPE65):c.311G>T (p.Gly104Val)

SNV
Germline

Chr1:68444818

Likely pathogenic

Condition: not provided
Leber congenital amaurosis 2
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA226542

rs_61752875

3 SubmittersRCV000085193 RCV001588914 RCV005425726

NM_000329.3(RPE65):c.370C>T (p.Arg124Ter)

SNV
Germline

Chr1:68444656

Pathogenic

Condition: not provided
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis 2
Inborn genetic diseases
Leber congenital amaurosis
Retinal dystrophy
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Retinitis pigmentosa 87 with choroidal involvement
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA226545

rs_61752877

13 SubmittersRCV000085195 RCV000538669 RCV000986332 RCV003242981 RCV001275332 RCV003888467 RCV002490740 RCV003764794

NM_000329.3(RPE65):c.430T>G (p.Tyr144Asp)

SNV
Germline

Chr1:68444596

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis 2
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA226550

rs_61752880

4 SubmittersRCV000085198 RCV001854498 RCV004566978 RCV004595854

NM_000329.3(RPE65):c.444G>T (p.Glu148Asp)

SNV
Germline

Chr1:68444582

Likely pathogenic

Condition: not provided
Leber congenital amaurosis 2
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA226553

rs_61752882

3 SubmittersRCV000085200 RCV001250685 RCV005620902

NM_000329.3(RPE65):c.499G>T (p.Asp167Tyr)

SNV
Germline

Chr1:68440997

Pathogenic

Condition: not provided
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis
RPE65-related disorder
Retinitis pigmentosa 20
Leber congenital amaurosis 2
RPE65-related recessive retinopathy
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Retinitis pigmentosa 87 with choroidal involvement

Reviewed By Expert Panel

CA226557

rs_61752883

11 SubmittersRCV000085203 RCV000678617 RCV001250708 RCV001831894 RCV000778252 RCV001245153 RCV004527316 RCV005031581

NM_000329.3(RPE65):c.544C>A (p.His182Asn)

SNV
Germline

Chr1:68440952

Likely pathogenic

Condition: not provided
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

CA226558

rs_61752884

3 SubmittersRCV000085204 RCV001250687

NM_000329.3(RPE65):c.544C>T (p.His182Tyr)

SNV
Germline

Chr1:68440952

Pathogenic

Condition: not provided
Autosomal recessive retinitis pigmentosa
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis 2
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA226559

rs_61752884

5 SubmittersRCV000085205 RCV001257821 RCV001388257 RCV004566979 RCV004527317

NM_000329.3(RPE65):c.644-2A>T

SNV
Unknown

Chr1:68439644

Pathogenic

Condition: not provided
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

CA226571

rs_61752891

2 SubmittersRCV000085214 RCV003467001

NM_000329.3(RPE65):c.65T>C (p.Leu22Pro)

SNV
Germline

Chr1:68448653

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis
RPE65-related recessive retinopathy
Leber congenital amaurosis 2

Reviewed By Expert Panel

CA226576

rs_61751277

10 SubmittersRCV000085218 RCV001218527 RCV002222384 RCV003764796 RCV001250672

NM_000329.3(RPE65):c.715T>G (p.Tyr239Asp)

SNV
Germline

Chr1:68439571

Pathogenic

Condition: not provided
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis 2
Leber congenital amaurosis 2
Retinitis pigmentosa 87 with choroidal involvement
Leber congenital amaurosis
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA226579

rs_61752896

9 SubmittersRCV000085220 RCV001207227 RCV000678618 RCV005357534 RCV001831895 RCV003764797

NM_000329.3(RPE65):c.858+1G>A

SNV
Germline

Chr1:68439190

Pathogenic

Condition: not provided
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

CA226582

rs_61752899

3 SubmittersRCV000085223 RCV001250702 RCV001388254

NM_000329.3(RPE65):c.858+1G>T

SNV
Germline

Chr1:68439190

Pathogenic

Condition: not provided
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA226583

rs_61752899

3 SubmittersRCV000085224 RCV001270786 RCV002513924

NM_000329.3(RPE65):c.859G>T (p.Val287Phe)

SNV
Germline

Chr1:68439081

Likely pathogenic

Condition: not provided
Leber congenital amaurosis 2
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA226585

rs_281865289

4 SubmittersRCV000085226 RCV002226457 RCV004527320

NM_000329.3(RPE65):c.95-2A>T

SNV
Germline

Chr1:68446862

Pathogenic

Condition: not provided
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Retinitis pigmentosa 87 with choroidal involvement
RPE65-related recessive retinopathy
Retinal dystrophy
Leber congenital amaurosis 2
Retinitis pigmentosa 20

Reviewed By Expert Panel

CA226591

rs_61751279

14 SubmittersRCV000085232 RCV000668398 RCV001003189 RCV002498451 RCV003460771 RCV001074560 RCV001250674 RCV005252750

NM_000329.3(RPE65):c.952T>A (p.Tyr318Asn)

SNV
Germline

Chr1:68438988

Pathogenic/Likely pathogenic

Condition: not provided
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA226592

rs_61752905

6 SubmittersRCV000085233 RCV001089895 RCV001854499 RCV003323394

NM_000329.3(RPE65):c.989G>A (p.Cys330Tyr)

SNV
Germline

Chr1:68438951

Likely pathogenic

Condition: not provided
Leber congenital amaurosis 2
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA226599

rs_61752908

5 SubmittersRCV000085237 RCV001250691 RCV000808234 RCV005606646 RCV005620903

NM_000350.3(ABCA4):c.2041C>T (p.Arg681Ter)

SNV
Germline

Chr1:94060656

Pathogenic/Likely pathogenic

Condition: not provided
Benign concentric annular macular dystrophy
Leber congenital amaurosis
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
Age related macular degeneration 2
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2
Stargardt disease 3
ABCA4-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA226973

rs_61749423

17 SubmittersRCV000085458 RCV000210310 RCV000504983 RCV000408512 RCV001073628 RCV001195987 RCV005025147 RCV004558307 RCV004732663

NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp)

SNV
Germline

Chr1:94021340

Pathogenic/Likely pathogenic; other

Condition: not provided
Retinal dystrophy
Leber congenital amaurosis
Severe early-childhood-onset retinal dystrophy
Stargardt disease
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2
Cone-rod dystrophy 3
ABCA4-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA227253

rs_61751404

21 SubmittersRCV000085683 RCV000210311 RCV000505114 RCV000408519 RCV000787504 RCV002505017 RCV004760372 RCV004732674

NM_000554.6(CRX):c.166G>A (p.Ala56Thr)

SNV
Germline

Chr19:47836308

Likely pathogenic

Condition: not provided
Leber congenital amaurosis 7
Cone-rod dystrophy 2

Criteria Provided
Single Submitter

CA227612

rs_61748437

2 SubmittersRCV000085991 RCV001369855

NM_000554.6(CRX):c.238G>A (p.Glu80Lys)

SNV
Germline

Chr19:47836380

Pathogenic

Condition: not provided
maculopathy
Leber congenital amaurosis 7
Cone-rod dystrophy 2

Criteria Provided
Single Submitter

CA227617

rs_62654391

3 SubmittersRCV000085994 RCV001003002 RCV001854500

NM_000554.6(CRX):c.253-15G>A

SNV
Germline

Chr19:47839305

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 7
Cone-rod dystrophy 2
Retinitis pigmentosa
Leber congenital amaurosis 7
Cone-rod dystrophy 2

Criteria Provided
Conflicting Classifications

CA227619

rs_145805694

7 SubmittersRCV000085996 RCV000335244 RCV000374438 RCV000282603 RCV001512740

NM_000554.6(CRX):c.425A>G (p.Tyr142Cys)

SNV
Germline

Chr19:47839492

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 7
Cone-rod dystrophy 2
Retinitis pigmentosa
Leber congenital amaurosis 1
Leber congenital amaurosis 7
Cone-rod dystrophy 2
CRX-related disorder
Autosomal dominant retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA227624

rs_61748442

13 SubmittersRCV000086001 RCV001131569 RCV001131568 RCV000787829 RCV000990235 RCV001089193 RCV004755770 RCV001257854 RCV004815140

NM_000554.6(CRX):c.549G>A (p.Gly183=)

SNV
Germline

Chr19:47839616

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Cone-rod dystrophy 2
Leber congenital amaurosis 7
Leber congenital amaurosis 7
Cone-rod dystrophy 2

Criteria Provided
Conflicting Classifications

CA227634

rs_61748451

4 SubmittersRCV000086010 RCV001132601 RCV001132602 RCV001132603 RCV001474134

NM_000554.6(CRX):c.597C>T (p.Ser199=)

SNV
Germline

Chr19:47839664

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Cone-rod dystrophy 2
Leber congenital amaurosis 7
Cone-rod dystrophy 2
Leber congenital amaurosis 7
CRX-related disorder

Criteria Provided
Conflicting Classifications

CA227639

rs_61748455

4 SubmittersRCV000086014 RCV000368298 RCV000277021 RCV000311321 RCV001080501 RCV003905083

NM_003322.6(TULP1):c.1466A>G (p.Lys489Arg)

SNV
Germline

Chr6:35500010

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 14
Leber congenital amaurosis
Retinal dystrophy
Retinitis pigmentosa 14
Leber congenital amaurosis 15

Criteria Provided
Multiple Submitters
No Conflicts

CA227705

rs_62636511

7 SubmittersRCV000086069 RCV001542663 RCV004689604 RCV004794360 RCV005031592

NM_003322.6(TULP1):c.1486G>A (p.Ala496Thr)

SNV
Germline

Chr6:35499990

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Leber congenital amaurosis 15
not specified
TULP1-related disorder

Criteria Provided
Conflicting Classifications

CA227706

rs_141980901

9 SubmittersRCV000086070 RCV001156199 RCV001156200 RCV000591717 RCV004734646

NM_003322.6(TULP1):c.1495+1G>A

SNV
Germline

Chr6:35499980

Pathogenic/Likely pathogenic

Condition: not provided
Leber congenital amaurosis 15
Retinal dystrophy
Retinitis pigmentosa 14
Autosomal recessive retinitis pigmentosa
Leber congenital amaurosis 15
Retinitis pigmentosa 14

Criteria Provided
Multiple Submitters
No Conflicts

CA227708

rs_281865168

9 SubmittersRCV000086071 RCV000454167 RCV001075035 RCV000454250 RCV001257785 RCV005031593

NM_003322.6(TULP1):c.1496-6C>A

SNV
Germline

Chr6:35498466

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa
Leber congenital amaurosis 15
Retinitis pigmentosa 14
Retinal dystrophy
Retinitis pigmentosa 14
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA227709

rs_281865171

11 SubmittersRCV000086072 RCV000787923 RCV002483168 RCV001073440 RCV001376339 RCV002228330

NM_003322.6(TULP1):c.99+1G>A

SNV
Germline

Chr6:35512638

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 14
Leber congenital amaurosis 15

Criteria Provided
Multiple Submitters
No Conflicts

CA227719

rs_281865166

5 SubmittersRCV000086081 RCV001376338 RCV001255922

NM_014336.5(AIPL1):c.234C>T (p.Ser78=)

SNV
Germline

Chr17:6433961

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 4
Retinitis pigmentosa
not specified

Criteria Provided
Conflicting Classifications

CA227868

rs_62635774

4 SubmittersRCV000086214 RCV001078533 RCV001125502 RCV000363858

NM_014336.5(AIPL1):c.277-2A>G

SNV
Germline

Chr17:6428508

Pathogenic

Condition: not provided
Leber congenital amaurosis 4

Criteria Provided
Single Submitter

CA227878

rs_140808549

3 SubmittersRCV000086221 RCV001172395

NM_014336.5(AIPL1):c.487C>T (p.Gln163Ter)

SNV
Germline

Chr17:6427036

Pathogenic

Condition: not provided
Leber congenital amaurosis 4

Criteria Provided
Single Submitter

CA227884

rs_62637009

2 SubmittersRCV000086227 RCV003505096

NM_014336.5(AIPL1):c.765T>C (p.Asp255=)

SNV
Germline

Chr17:6426634

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis Pigmentosa, Recessive
Retinitis Pigmentosa, Dominant
Leber congenital amaurosis 4

Criteria Provided
Conflicting Classifications

CA227893

rs_62637018

3 SubmittersRCV000086232 RCV000263430 RCV000353479 RCV001085755

NM_014336.5(AIPL1):c.97-9G>A

SNV
Germline

Chr17:6434107

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis Pigmentosa, Dominant
Retinitis Pigmentosa, Recessive
not specified
Leber congenital amaurosis 4

Criteria Provided
Conflicting Classifications

CA227901

rs_140124986

6 SubmittersRCV000086237 RCV000360989 RCV000303893 RCV001699204 RCV001080115

NM_020366.4(RPGRIP1):c.2237G>A (p.Gly746Glu)

SNV
Germline

Chr14:21325253

Likely pathogenic

Condition: not provided
Leber congenital amaurosis 6

No Assertion Criteria Provided

CA227910

rs_61751268

2 SubmittersRCV000086244 RCV001261183

NM_025114.4(CEP290):c.3814C>T (p.Arg1272Ter)

SNV
Germline

Chr12:88089247

Pathogenic

Condition: not provided
Joubert syndrome 5
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Joubert syndrome 5
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Leber congenital amaurosis
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA227967

rs_62640581

9 SubmittersRCV000086289 RCV001199210 RCV002498466 RCV001216498 RCV001831897 RCV003467011

NM_025114.4(CEP290):c.4771C>T (p.Gln1591Ter)

SNV
Germline

Chr12:88083888

Pathogenic

Condition: not provided
Leber congenital amaurosis
Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14
CEP290-related disorder
Senior-Loken syndrome 6
Joubert syndrome 5
Meckel syndrome, type 4
Leber congenital amaurosis 10
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA227973

rs_62640574

6 SubmittersRCV000086293 RCV001002936 RCV001385691 RCV003467013 RCV004542803 RCV005008008

NM_025114.4(CEP290):c.4966G>T (p.Glu1656Ter)

SNV
Germline

Chr12:88083077

Pathogenic/Likely pathogenic

Condition: not provided
CEP290-related disorder
Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Leber congenital amaurosis
Senior-Loken syndrome 6
Retinitis pigmentosa
Leber congenital amaurosis 10
Bardet-Biedl syndrome 14
CEP290-related ciliopathy
Senior-Loken syndrome 6
Joubert syndrome 5
Meckel syndrome, type 4
Leber congenital amaurosis 10
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA227975

rs_62638179

10 SubmittersRCV000086294 RCV000263885 RCV000637002 RCV001276492 RCV001335142 RCV001723671 RCV002227445 RCV003467014 RCV004593991 RCV005008009

NM_201253.3(CRB1):c.1148G>A (p.Cys383Tyr)

SNV
Germline

Chr1:197356990

Pathogenic/Likely pathogenic

Condition: not provided
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA227987

rs_62645754

8 SubmittersRCV000086304 RCV002498468 RCV001857423 RCV001002989 RCV001250593 RCV003453010 RCV003453011 RCV004815175

NM_201253.3(CRB1):c.1208C>G (p.Ser403Ter)

SNV
Germline

Chr1:197421036

Pathogenic

Condition: not provided
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA227988

rs_62645746

3 SubmittersRCV000086305 RCV003474690 RCV003764799

NM_201253.3(CRB1):c.1428C>T (p.Thr476=)

SNV
Germline

Chr1:197421256

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA227991

rs_62636282

5 SubmittersRCV000086307 RCV000310950 RCV000274599 RCV001080606 RCV000370258 RCV003888496

NM_201253.3(CRB1):c.1438T>C (p.Cys480Arg)

SNV
Germline

Chr1:197421266

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 12
Leber congenital amaurosis
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinal dystrophy
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA227993

rs_62636264

9 SubmittersRCV000086308 RCV001376374 RCV001826777 RCV000797320 RCV003453013 RCV005008010 RCV003235040 RCV003453012

NM_201253.3(CRB1):c.1647T>C (p.Asn549=)

SNV
Germline

Chr1:197421475

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 8
Retinitis pigmentosa
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Conflicting Classifications

CA227996

rs_62636283

5 SubmittersRCV000086310 RCV000324209 RCV000283110 RCV000378808 RCV001084432

NM_201253.3(CRB1):c.2042G>A (p.Cys681Tyr)

SNV
Germline

Chr1:197421870

Pathogenic/Likely pathogenic

Condition: not provided
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Retinal dystrophy
Leber congenital amaurosis
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA228000

rs_62636266

9 SubmittersRCV000086312 RCV001046839 RCV004815176 RCV001831900 RCV003453015 RCV003453016

NM_201253.3(CRB1):c.2128G>C (p.Glu710Gln)

SNV
Germline

Chr1:197421956

Pathogenic

Condition: not provided
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA228001

rs_62645755

3 SubmittersRCV000086313 RCV001250598 RCV003764800

NM_201253.3(CRB1):c.2222T>C (p.Met741Thr)

SNV
Germline

Chr1:197427547

Pathogenic/Likely pathogenic

Condition: not provided
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Multiple Submitters
No Conflicts

CA228002

rs_62636267

5 SubmittersRCV000086314 RCV001250657 RCV001380408 RCV003453017

NM_201253.3(CRB1):c.2479G>T (p.Gly827Ter)

SNV
Germline

Chr1:197427804

Pathogenic

Condition: not provided
Leber congenital amaurosis 8

No Assertion Criteria Provided

CA228009

rs_62636269

2 SubmittersRCV000086320 RCV001250636

NM_201253.3(CRB1):c.2555T>C (p.Ile852Thr)

SNV
Germline

Chr1:197427880

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8
Leber congenital amaurosis
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA228013

rs_62636271

6 SubmittersRCV000086323 RCV000529725 RCV001250658 RCV001002996 RCV004815177

NM_201253.3(CRB1):c.2681A>G (p.Asn894Ser)

SNV
Germline

Chr1:197429453

Conflicting classifications of pathogenicity

Condition: not provided
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Optic atrophy
Retinitis pigmentosa 12
Leber congenital amaurosis
CRB1-related disorder
Hereditary macular dystrophy

Criteria Provided
Conflicting Classifications

CA228017

rs_62636290

9 SubmittersRCV000086327 RCV000763788 RCV001239396 RCV001526761 RCV004815178 RCV001563888 RCV001826778 RCV004529904 RCV005359026

NM_201253.3(CRB1):c.2688T>A (p.Cys896Ter)

SNV
Germline

Chr1:197429460

Pathogenic

Condition: not provided
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Macular dystrophy
Leber congenital amaurosis 8
Leber congenital amaurosis
Retinitis pigmentosa 12
Retinitis pigmentosa
Retinal dystrophy
Pigmented paravenous retinochoroidal atrophy
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA203679

rs_62636273

15 SubmittersRCV000086328 RCV000542027 RCV000505142 RCV001250608 RCV001275654 RCV001376474 RCV001723672 RCV001074017 RCV003453019 RCV005008011

NM_201253.3(CRB1):c.3074G>T (p.Ser1025Ile)

SNV
Germline

Chr1:197434937

Likely pathogenic

Condition: not provided
Leber congenital amaurosis 8

No Assertion Criteria Provided

CA228030

rs_62636274

2 SubmittersRCV000086335 RCV001250614

NM_201253.3(CRB1):c.3299T>C (p.Ile1100Thr)

SNV
Germline

Chr1:197435162

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA228035

rs_62635659

5 SubmittersRCV000086339 RCV001857424 RCV002247492 RCV003453026 RCV003453027

NM_201253.3(CRB1):c.3320T>C (p.Leu1107Pro)

SNV
Germline

Chr1:197435183

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinal dystrophy
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Multiple Submitters
No Conflicts

CA228036

rs_62636276

7 SubmittersRCV000086342 RCV001378740 RCV001075774 RCV001250617 RCV003453029 RCV005008012 RCV003453028

NM_201253.3(CRB1):c.3320T>G (p.Leu1107Arg)

SNV
Germline

Chr1:197435183

Pathogenic

Condition: not provided
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA228037

rs_62636276

3 SubmittersRCV000086343 RCV001250629 RCV002514529

NM_201253.3(CRB1):c.3331G>T (p.Glu1111Ter)

SNV
Germline

Chr1:197435194

Pathogenic

Condition: not provided
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA228038

rs_62636277

2 SubmittersRCV000086344 RCV002514530

NM_201253.3(CRB1):c.3879G>A (p.Trp1293Ter)

SNV
Germline

Chr1:197442166

Pathogenic

Condition: not provided
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA228044

rs_281865174

5 SubmittersRCV000086348 RCV001857425 RCV001250619 RCV004794361

NM_201253.3(CRB1):c.3961T>A (p.Cys1321Ser)

SNV
Germline

Chr1:197442248

Likely pathogenic

Condition: not provided
Leber congenital amaurosis 8

No Assertion Criteria Provided

CA228047

rs_62635649

2 SubmittersRCV000086350 RCV001250646

NM_201253.3(CRB1):c.430T>G (p.Phe144Val)

SNV
Germline

Chr1:197328781

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Conflicting Classifications

CA228050

rs_62636262

4 SubmittersRCV000086355 RCV001826780 RCV001242505 RCV001588920

NM_201253.3(CRB1):c.614T>C (p.Ile205Thr)

SNV
Germline

Chr1:197328965

Conflicting classifications of pathogenicity

Condition: not provided
Pigmented paravenous retinochoroidal atrophy
Intellectual disability
Leber congenital amaurosis
Retinitis pigmentosa
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8
Leber congenital amaurosis 1

Criteria Provided
Conflicting Classifications

CA228054

rs_62645749

10 SubmittersRCV000086360 RCV000288080 RCV001251962 RCV001271893 RCV000787825 RCV001080600 RCV000382919 RCV000986485

NM_014336.5(AIPL1):c.937G>T (p.Ala313Ser)

SNV
Germline

Chr17:6425678

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 4
not specified

Criteria Provided
Conflicting Classifications

CA228922

rs_115681466

6 SubmittersRCV000086968 RCV001085684 RCV001699038

NM_201253.3(CRB1):c.99G>T (p.Arg33Ser)

SNV
Germline

Chr1:197328450

Conflicting classifications of pathogenicity

Condition: not provided
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Conflicting Classifications

CA228954

rs_59691602

4 SubmittersRCV000087005 RCV000346080 RCV000309890 RCV000391581 RCV001082725

NM_025114.4(CEP290):c.3442C>G (p.Leu1148Val)

SNV
Germline

Chr12:88092700

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Leber congenital amaurosis
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA150905

rs_372190684

4 SubmittersRCV000114194 RCV000636999 RCV001831902 RCV004542807

NM_025114.4(CEP290):c.5237G>A (p.Arg1746Gln)

SNV
Germline

Chr12:88079219

Conflicting classifications of pathogenicity

not specified
Leber congenital amaurosis 10
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Condition: not provided
Joubert syndrome 5
Senior-Loken syndrome 6
Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Leber congenital amaurosis
Kidney disorder
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA150915

rs_61941020

18 SubmittersRCV000114201 RCV000336982 RCV000352237 RCV000399104 RCV000436165 RCV000292636 RCV000407985 RCV001084256 RCV001826782 RCV002294031 RCV003888506

NM_025132.4(WDR19):c.3533G>A (p.Arg1178Gln)

SNV
Germline

Chr4:39273029

Pathogenic/Likely pathogenic

Senior-Loken syndrome 8
Condition: not provided
Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8
Nephronophthisis 13
Senior-Loken syndrome 8
Cranioectodermal dysplasia 4
Nephronophthisis 13
Leber congenital amaurosis
WDR19-related disorder
Cranioectodermal dysplasia 4
Asphyxiating thoracic dystrophy 5
Nephronophthisis 13
Senior-Loken syndrome 8
Cranioectodermal dysplasia
Cranioectodermal dysplasia 4
Spermatogenic failure 72
Asphyxiating thoracic dystrophy 5
Nephronophthisis 13
Senior-Loken syndrome 8

Criteria Provided
Multiple Submitters
No Conflicts

CA151412

rs_79436363

11 SubmittersRCV000115014 RCV000433622 RCV000653250 RCV000850617 RCV003224150 RCV003224149 RCV001262101 RCV005250018 RCV005359057 RCV000754960 RCV005031600

NM_025114.4(CEP290):c.1624-5T>C

SNV
Germline

Chr12:88118575

Conflicting classifications of pathogenicity

not specified
Senior-Loken syndrome 6
Joubert syndrome 5
Leber congenital amaurosis 10
Meckel syndrome, type 4
Nephronophthisis
Joubert syndrome
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Joubert syndrome 5
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Leber congenital amaurosis
Kidney disorder

Criteria Provided
Conflicting Classifications

CA290037

rs_142742071

9 SubmittersRCV000124244 RCV000262275 RCV000361419 RCV000297299 RCV000321698 RCV000475858 RCV000266641 RCV002505080 RCV001274128 RCV002294036

NM_025114.4(CEP290):c.3465G>A (p.Leu1155=)

SNV
Germline

Chr12:88090836

Conflicting classifications of pathogenicity

not specified
Joubert syndrome 5
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Leber congenital amaurosis 10
Nephronophthisis
Joubert syndrome
Meckel-Gruber syndrome
Leber congenital amaurosis
Condition: not provided
Kidney disorder

Criteria Provided
Conflicting Classifications

CA290039

rs_150138016

7 SubmittersRCV000124246 RCV000293222 RCV000337209 RCV000279934 RCV000375509 RCV000372128 RCV000459124 RCV001271579 RCV001812001 RCV002294037

NM_025114.4(CEP290):c.5199A>G (p.Gln1733=)

SNV
Germline

Chr12:88080209

Conflicting classifications of pathogenicity

not specified
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Nephronophthisis
Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome 5
Meckel syndrome, type 4
Condition: not provided
Leber congenital amaurosis
Kidney disorder

Criteria Provided
Conflicting Classifications

CA290041

rs_79644671

8 SubmittersRCV000124248 RCV000319253 RCV000259368 RCV000354431 RCV000472139 RCV000267777 RCV000322977 RCV001812002 RCV001276489 RCV002294038

NM_000554.6(CRX):c.897G>C (p.Leu299Phe)

SNV
Germline

Chr19:47839964

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Cone-rod dystrophy 2
Leber congenital amaurosis 7
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA270029

rs_527236063

3 SubmittersRCV000132605 RCV005222764 RCV003888548

NM_003322.6(TULP1):c.349G>A (p.Glu117Lys)

SNV
Germline

Chr6:35511648

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 14
Retinitis pigmentosa 14
Leber congenital amaurosis 15

Criteria Provided
Conflicting Classifications

CA270083

rs_527236117

5 SubmittersRCV000132650 RCV001378479 RCV001376329 RCV005031648

NM_004744.5(LRAT):c.163C>T (p.Arg55Trp)

SNV
Germline

Chr4:154744489

Pathogenic

Retinitis pigmentosa
Condition: not provided
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA270087

rs_527236079

3 SubmittersRCV000132653 RCV003556177 RCV005431484

NM_025114.4(CEP290):c.6787A>G (p.Ser2263Gly)

SNV
Germline

Chr12:88058879

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Meckel syndrome, type 4
Joubert syndrome 1
Joubert syndrome 5
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Leber congenital amaurosis
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA207418

rs_77778467

12 SubmittersRCV000193732 RCV000132681 RCV001110731 RCV000988879 RCV001110732 RCV000490488 RCV001109949 RCV001109950 RCV001272010 RCV001083794 RCV003888568

NM_201253.3(CRB1):c.1576C>T (p.Arg526Ter)

SNV
Germline

Chr1:197421404

Pathogenic/Likely pathogenic

Leber congenital amaurosis 8
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Leber congenital amaurosis
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA170083

rs_114342808

14 SubmittersRCV000132698 RCV000179572 RCV001073589 RCV000792250 RCV005008044 RCV001002990 RCV003453098 RCV003453099

NM_206933.4(USH2A):c.14243C>T (p.Ser4748Phe)

SNV
Germline

Chr1:215650692

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Leber congenital amaurosis
Retinitis pigmentosa 39
Usher syndrome type 2A
Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA270145

rs_527236126

7 SubmittersRCV000132706 RCV000144482 RCV000675147 RCV003888572 RCV002514760 RCV003462051

NM_025114.4(CEP290):c.1711+1G>A

SNV
Germline

Chr12:88118482

Pathogenic/Likely pathogenic

Leber congenital amaurosis 10
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Meckel syndrome, type 4
Joubert syndrome 5
Bardet-Biedl syndrome 14
CEP290-related disorder
Bardet-Biedl syndrome 14
Retinal dystrophy
Joubert syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA345951

rs_587783009

7 SubmittersRCV000144459 RCV001384909 RCV002492522 RCV003387770 RCV003467201 RCV003888575 RCV005252766

NM_020366.4(RPGRIP1):c.1892A>T (p.His631Leu)

SNV
Unknown

Chr14:21324747

Pathogenic

Leber congenital amaurosis 6

No Assertion Criteria Provided

CA170857

rs_535922252

1 SubmittersRCV000144462

NM_001134831.2(AHI1):c.2174G>A (p.Trp725Ter)

SNV
Germline

Chr6:135433119

Pathogenic/Likely pathogenic

Joubert syndrome 3
Retinitis pigmentosa
Condition: not provided
Leber congenital amaurosis
Joubert syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA270780

rs_587783013

10 SubmittersRCV000144464 RCV000678521 RCV001698972 RCV001262092 RCV003495112

NM_201253.3(CRB1):c.998G>A (p.Gly333Asp)

SNV
Germline

Chr1:197356840

Pathogenic

Leber congenital amaurosis 8
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA170860

rs_587783015

2 SubmittersRCV000144466 RCV003764878

NM_025114.4(CEP290):c.3904C>T (p.Gln1302Ter)

SNV
Germline

Chr12:88089157

Pathogenic

Leber congenital amaurosis 10
Joubert syndrome 5
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
Leber congenital amaurosis
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA277711

rs_587783016

5 SubmittersRCV000144467 RCV000201586 RCV001385693 RCV001831927 RCV003467203

NM_020366.4(RPGRIP1):c.832C>T (p.Arg278Ter)

SNV
Germline

Chr14:21307762

Pathogenic

Leber congenital amaurosis 6
Leber congenital amaurosis 6
Cone-rod dystrophy 13

Criteria Provided
Single Submitter

CA170861

rs_587783018

3 SubmittersRCV000144469 RCV001380810

NM_020366.4(RPGRIP1):c.2356C>T (p.Gln786Ter)

SNV
Unknown

Chr14:21325372

Pathogenic

Leber congenital amaurosis 6

No Assertion Criteria Provided

CA170863

rs_587783019

1 SubmittersRCV000144470

NM_025114.4(CEP290):c.4250A>G (p.Gln1417Arg)

SNV
Germline

Chr12:88086443

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Joubert syndrome 5
Meckel syndrome, type 4
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Joubert syndrome 5
Bardet-Biedl syndrome 14
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Leber congenital amaurosis
Inborn genetic diseases
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA233675

rs_201504946

8 SubmittersRCV000152977 RCV000281671 RCV000313475 RCV000348281 RCV000373904 RCV000390170 RCV000763864 RCV001245512 RCV001279535 RCV002516071 RCV004528881

NM_025114.4(CEP290):c.226G>A (p.Ala76Thr)

SNV
Germline

Chr12:88139519

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Joubert syndrome 5
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
not specified
Inborn genetic diseases
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA233682

rs_373913704

9 SubmittersRCV000723892 RCV001109956 RCV001110741 RCV001079764 RCV001110739 RCV001110738 RCV001110740 RCV001818343 RCV003298162 RCV004528882

NM_201253.3(CRB1):c.2291G>A (p.Arg764His)

SNV
Germline

Chr1:197427616

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12

Criteria Provided
Conflicting Classifications

CA233861

rs_375040930

8 SubmittersRCV000153110 RCV001235069 RCV001250605 RCV001831949 RCV002247550 RCV004796048

NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln)

SNV
Germline

Chr12:88125356

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Joubert syndrome 1
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Leber congenital amaurosis 10
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Senior-Loken syndrome 6
Joubert syndrome 5
Leber congenital amaurosis
Atypical hemolytic-uremic syndrome
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA179860

rs_188164241

16 SubmittersRCV000152980 RCV000658663 RCV000988890 RCV001084283 RCV001110571 RCV001110567 RCV001110568 RCV001110569 RCV001110570 RCV001275040 RCV002294046 RCV004815226

NM_001164688.2(RD3):c.139C>T (p.Arg47Cys)

SNV
Germline

Chr1:211481277

Conflicting classifications of pathogenicity

not specified
Leber congenital amaurosis 12
Condition: not provided

Criteria Provided
Conflicting Classifications

CA180366

rs_34049451

4 SubmittersRCV000153816 RCV000877817 RCV003416004

NM_025114.4(CEP290):c.6401T>C (p.Ile2134Thr)

SNV
Germline

Chr12:88060951

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Meckel syndrome, type 4
Joubert syndrome 5
Leber congenital amaurosis 10
Leber congenital amaurosis
Intellectual disability

Criteria Provided
Conflicting Classifications

CA179856

rs_117852025

14 SubmittersRCV000152970 RCV000224947 RCV001082043 RCV001114081 RCV001114077 RCV001114078 RCV001114079 RCV001114080 RCV001272012 RCV001252445

NM_025114.4(CEP290):c.1667T>A (p.Ile556Asn)

SNV
Germline

Chr12:88118527

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Leber congenital amaurosis
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA233677

rs_727503854

5 SubmittersRCV000152978 RCV000723757 RCV001058824 RCV001275036 RCV004532719

NM_014336.5(AIPL1):c.1006G>A (p.Ala336Thr)

SNV
Germline

Chr17:6425609

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Leber congenital amaurosis 4
Retinal dystrophy
AIPL1-related disorder

Criteria Provided
Conflicting Classifications

CA233457

rs_143092701

8 SubmittersRCV000152763 RCV000723947 RCV001085552 RCV004815222 RCV004732710

NM_201253.3(CRB1):c.3166G>T (p.Asp1056Tyr)

SNV
Germline

Chr1:197435029

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Conflicting Classifications

CA233863

rs_727503889

4 SubmittersRCV000153112 RCV001526715 RCV001850090

NM_018418.5(SPATA7):c.1033A>G (p.Met345Val)

SNV
Germline

Chr14:88431176

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Leber congenital amaurosis 3
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA234982

rs_375371982

6 SubmittersRCV000153988 RCV001120978 RCV001049973 RCV003888597

NM_014336.5(AIPL1):c.453C>T (p.Ile151=)

SNV
Germline

Chr17:6428330

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 4

Criteria Provided
Conflicting Classifications

CA233446

rs_727503799

2 SubmittersRCV000152748 RCV001475204

NM_025114.4(CEP290):c.5055G>A (p.Ala1685=)

SNV
Germline

Chr12:88080353

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 5
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA233673

rs_73192874

4 SubmittersRCV000152976 RCV000400108 RCV000291841 RCV000344957 RCV000399776 RCV000346891 RCV001085341 RCV003888583

NM_201253.3(CRB1):c.1533C>T (p.Ala511=)

SNV
Germline

Chr1:197421361

Conflicting classifications of pathogenicity

not specified
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis
Retinitis pigmentosa 12

Criteria Provided
Conflicting Classifications

CA233859

rs_142224492

7 SubmittersRCV000153109 RCV000272435 RCV000327584 RCV000377522 RCV000755993 RCV001085035 RCV001275648 RCV001532866

NM_019098.5(CNGB3):c.991-3T>G

SNV
Germline

Chr8:86644689

Pathogenic

Achromatopsia 3
Leber congenital amaurosis
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA274008

rs_773372519

8 SubmittersRCV000169173 RCV000678548 RCV001036288 RCV001074271

NM_018418.5(SPATA7):c.94+2T>C

SNV
Germline

Chr14:88391457

Likely pathogenic

Leber congenital amaurosis 3

Criteria Provided
Multiple Submitters
No Conflicts

CA274500

rs_786204787

2 SubmittersRCV000169677

NM_001164688.2(RD3):c.180C>A (p.Tyr60Ter)

SNV
Germline

Chr1:211481236

Pathogenic

Leber congenital amaurosis 12
Condition: not provided
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA274682

rs_762631020

3 SubmittersRCV000170305 RCV001726018 RCV005417984

NM_001164688.2(RD3):c.112C>T (p.Arg38Ter)

SNV
Germline

Chr1:211481304

Pathogenic

Leber congenital amaurosis 12
Abnormality of the eye
Retinal dystrophy
RD3-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA274684

rs_786205148

6 SubmittersRCV000170306 RCV001814086 RCV004815266 RCV003895172

NM_001164688.2(RD3):c.136G>T (p.Glu46Ter)

SNV
Germline

Chr1:211481280

Pathogenic

Leber congenital amaurosis 12

No Assertion Criteria Provided

CA274687

rs_786205150

1 SubmittersRCV000170308

NM_022787.4(NMNAT1):c.53A>G (p.Asn18Ser)

SNV
Germline

Chr1:9972126

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
Leber congenital amaurosis 9

Criteria Provided
Multiple Submitters
No Conflicts

CA235735

rs_748902766

8 SubmittersRCV000171148 RCV001075815 RCV001256641

NM_201253.3(CRB1):c.1180T>C (p.Cys394Arg)

SNV
Germline

Chr1:197421008

Pathogenic

Condition: not provided
Autosomal recessive retinitis pigmentosa
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Multiple Submitters
No Conflicts

CA235768

rs_786205450

3 SubmittersRCV000171163 RCV001257859 RCV003765070 RCV004527365

NM_201253.3(CRB1):c.1783G>A (p.Ala595Thr)

SNV
Germline

Chr1:197421611

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Conflicting Classifications

CA235770

rs_752212470

2 SubmittersRCV000171164 RCV001563787 RCV001563788

NM_018418.5(SPATA7):c.288T>A (p.Cys96Ter)

SNV
Germline

Chr14:88416760

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa
Autosomal recessive retinitis pigmentosa
Leber congenital amaurosis 3
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA235914

rs_767745816

9 SubmittersRCV000171226 RCV001003226 RCV001257831 RCV001852064 RCV005237635

NM_000554.6(CRX):c.274G>A (p.Ala92Thr)

SNV
Germline

Chr19:47839341

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 7
Cone-rod dystrophy 2
Autosomal dominant retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA236030

rs_786205521

3 SubmittersRCV000171286 RCV001342675 RCV001257853

NM_002242.4(KCNJ13):c.359T>C (p.Ile120Thr)

SNV
Germline

Chr2:232771004

Pathogenic

Condition: not provided
Leber congenital amaurosis 16

Criteria Provided
Single Submitter

CA236131

rs_786205550

2 SubmittersRCV000171339 RCV000210435

NM_003322.6(TULP1):c.1256G>A (p.Arg419Gln)

SNV
Germline

Chr6:35503626

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive retinitis pigmentosa
Retinal dystrophy
Leber congenital amaurosis
Retinitis pigmentosa 14
Leber congenital amaurosis 15

Criteria Provided
Conflicting Classifications

CA236254

rs_770045008

8 SubmittersRCV000171394 RCV001257784 RCV003888608 RCV005406883 RCV004796064

NM_201253.3(CRB1):c.2783G>A (p.Cys928Tyr)

SNV
Germline

Chr1:197429555

Conflicting classifications of pathogenicity

Retinitis pigmentosa
not specified
Leber congenital amaurosis 8

Criteria Provided
Conflicting Classifications

CA279259

rs_863223341

4 SubmittersRCV000201433 RCV005417986 RCV003474924

NM_003322.6(TULP1):c.961T>G (p.Tyr321Asp)

SNV
Germline

Chr6:35506041

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 14
Leber congenital amaurosis 15

Criteria Provided
Conflicting Classifications

CA239234

rs_794726991

3 SubmittersRCV000173773 RCV005031703

NM_000883.4(IMPDH1):c.1108G>A (p.Ala370Thr)

SNV
Germline

Chr7:128396989

Conflicting classifications of pathogenicity

not specified
Leber congenital amaurosis 11
Retinitis pigmentosa
Leber congenital amaurosis 11
Retinitis pigmentosa 10
Condition: not provided
IMPDH1-related disorder

Criteria Provided
Conflicting Classifications

CA239483

rs_72624961

6 SubmittersRCV000174020 RCV000281510 RCV000322287 RCV000765929 RCV000877998 RCV004535194

NM_025114.4(CEP290):c.1522+6C>T

SNV
Germline

Chr12:88120108

Conflicting classifications of pathogenicity

not specified
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Meckel syndrome, type 4
Leber congenital amaurosis 10
Joubert syndrome 5
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Condition: not provided

Criteria Provided
Conflicting Classifications

CA201235

rs_148446546

9 SubmittersRCV000174953 RCV001084413 RCV001112002 RCV001112003 RCV001112004 RCV001112005 RCV001112006 RCV000835406

NM_025114.4(CEP290):c.1716A>G (p.Leu572=)

SNV
Germline

Chr12:88117141

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Leber congenital amaurosis

Criteria Provided
Conflicting Classifications

CA241104

rs_372349042

6 SubmittersRCV000175368 RCV000724312 RCV001088014 RCV001275034

NM_000180.4(GUCY2D):c.519C>T (p.Tyr173=)

SNV
Germline

Chr17:8003566

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 1
Cone-rod dystrophy 6

Criteria Provided
Conflicting Classifications

CA241300

rs_794727237

2 SubmittersRCV000175542 RCV002056937

NM_020366.4(RPGRIP1):c.154C>T (p.Arg52Ter)

SNV
Germline

Chr14:21294745

Pathogenic/Likely pathogenic

Cone-rod dystrophy 13
Condition: not provided
Leber congenital amaurosis 6
Cone-rod dystrophy 13
Leber congenital amaurosis 6
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA201680

rs_192003551

8 SubmittersRCV000175918 RCV000724658 RCV001261169 RCV001852161 RCV005417990

NM_020366.4(RPGRIP1):c.95T>A (p.Met32Lys)

SNV
Germline

Chr14:21294686

Conflicting classifications of pathogenicity

Condition: not provided
Cone-rod dystrophy 13
Leber congenital amaurosis 6
Cone-rod dystrophy 13
Leber congenital amaurosis 6
not specified
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA241768

rs_200510462

11 SubmittersRCV000175919 RCV000763911 RCV001110994 RCV001110995 RCV001698989 RCV004816274

NM_022787.4(NMNAT1):c.37G>A (p.Ala13Thr)

SNV
Germline

Chr1:9972110

Conflicting classifications of pathogenicity

Condition: not provided
Retinal dystrophy
Leber congenital amaurosis 9
NMNAT1-related disorder

Criteria Provided
Conflicting Classifications

CA241796

rs_138613460

10 SubmittersRCV000175940 RCV001074101 RCV001256640 RCV004757972

NM_201253.3(CRB1):c.600A>G (p.Thr200=)

SNV
Germline

Chr1:197328951

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Condition: not provided
Leber congenital amaurosis

Criteria Provided
Conflicting Classifications

CA201752

rs_77713666

7 SubmittersRCV000176012 RCV000331649 RCV000277900 RCV000386258 RCV000878480 RCV001727616 RCV001832005

NM_020366.4(RPGRIP1):c.3749-2A>G

SNV
Germline

Chr14:21351102

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 6
Leber congenital amaurosis 6
Cone-rod dystrophy 13
Cone-rod dystrophy 13

Criteria Provided
Conflicting Classifications

CA201956

rs_376517859

3 SubmittersRCV000176499 RCV001800514 RCV001226493 RCV001800515

NM_025114.4(CEP290):c.2980G>A (p.Glu994Lys)

SNV
Germline

Chr12:88102849

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 5
Senior-Loken syndrome 6
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
not specified
Meckel syndrome, type 4
Leber congenital amaurosis 10
Leber congenital amaurosis
Retinal dystrophy
Bardet-Biedl syndrome 14
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA205610

rs_182369459

11 SubmittersRCV000176690 RCV000660467 RCV001113515 RCV001082205 RCV000192651 RCV001111528 RCV001111529 RCV001275025 RCV004816280 RCV001113514 RCV004528939

NM_000329.3(RPE65):c.168A>G (p.Pro56=)

SNV
Germline

Chr1:68446787

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA243145

rs_150260489

3 SubmittersRCV000177043 RCV001088492 RCV004816282

NM_014336.5(AIPL1):c.318G>A (p.Gln106=)

SNV
Germline

Chr17:6428465

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 4

Criteria Provided
Conflicting Classifications

CA243418

rs_142208422

2 SubmittersRCV000177280 RCV001086100

NM_014336.5(AIPL1):c.401A>T (p.Tyr134Phe)

SNV
Germline

Chr17:6428382

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Leber congenital amaurosis 1
Leber congenital amaurosis 4

Criteria Provided
Conflicting Classifications

CA202389

rs_16955851

9 SubmittersRCV000177283 RCV000487555 RCV000989685 RCV001082876

NM_025114.4(CEP290):c.3654T>C (p.Leu1218=)

SNV
Germline

Chr12:88089407

Conflicting classifications of pathogenicity

not specified
Leber congenital amaurosis 10
Bardet-Biedl syndrome 14
Joubert syndrome 5
Senior-Loken syndrome 6
Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Leber congenital amaurosis
Meckel syndrome, type 4
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA202523

rs_201838492

12 SubmittersRCV000177576 RCV000400157 RCV000300808 RCV000335768 RCV000348352 RCV001699223 RCV000198308 RCV001826899 RCV000401126 RCV004528944

NM_025114.4(CEP290):c.4102G>A (p.Asp1368Asn)

SNV
Germline

Chr12:88087872

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis
not specified
Inborn genetic diseases
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA244173

rs_184143186

8 SubmittersRCV000177662 RCV001273073 RCV003150971 RCV004975310 RCV001080328

NM_025114.4(CEP290):c.5182G>T (p.Glu1728Ter)

SNV
Germline

Chr12:88080226

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Condition: not provided
Leber congenital amaurosis
Retinal dystrophy
Meckel syndrome, type 4
Leber congenital amaurosis 10
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Joubert syndrome 5
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6

Criteria Provided
Multiple Submitters
No Conflicts

CA275233

rs_370119681

11 SubmittersRCV001036300 RCV000523279 RCV001826904 RCV004816287 RCV002222427 RCV001376454 RCV003468864 RCV005003531

NM_025114.4(CEP290):c.5322C>T (p.Leu1774=)

SNV
Germline

Chr12:88079134

Conflicting classifications of pathogenicity

not specified
Senior-Loken syndrome 6
Leber congenital amaurosis 10
Bardet-Biedl syndrome 14
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Leber congenital amaurosis
Inborn genetic diseases
CEP290-related disorder
Meckel syndrome, type 4
Joubert syndrome 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA202689

rs_117370446

15 SubmittersRCV000178010 RCV000364677 RCV000328615 RCV000268862 RCV001082773 RCV001832019 RCV003352794 RCV004528947 RCV000265423 RCV000320490 RCV000712032

NM_000180.4(GUCY2D):c.1290C>T (p.Ala430=)

SNV
Germline

Chr17:8006626

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 1
Cone-rod dystrophy 6

Criteria Provided
Conflicting Classifications

CA245077

rs_141967896

2 SubmittersRCV000178057 RCV001078797

NM_000180.4(GUCY2D):c.1093C>T (p.Arg365Trp)

SNV
Germline

Chr17:8006429

Conflicting classifications of pathogenicity

Condition: not provided
Cone-rod dystrophy 6
Cone-rod dystrophy 6
Leber congenital amaurosis 1
not specified
Retinal dystrophy
Cone-rod dystrophy 6
Leber congenital amaurosis 1
Choroidal dystrophy, central areolar, 1
Night blindness, congenital stationary, type1i
GUCY2D-related disorder

Criteria Provided
Conflicting Classifications

CA245079

rs_138836357

11 SubmittersRCV000487602 RCV000989735 RCV001083929 RCV001001148 RCV004816289 RCV005025284 RCV004748636

NM_000883.4(IMPDH1):c.336C>T (p.Ala112=)

SNV
Germline

Chr7:128405784

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Leber congenital amaurosis 11

Criteria Provided
Conflicting Classifications

CA245158

rs_547740249

3 SubmittersRCV000178133 RCV000348403 RCV000395095

NM_025114.4(CEP290):c.6452T>C (p.Leu2151Ser)

SNV
Germline

Chr12:88060900

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Leber congenital amaurosis

Criteria Provided
Conflicting Classifications

CA202959

rs_191613017

5 SubmittersRCV000178636 RCV001697163 RCV000637007 RCV001272011

NM_152443.3(RDH12):c.195A>C (p.Arg65=)

SNV
Germline

Chr14:67725106

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Leber congenital amaurosis 13

Criteria Provided
Conflicting Classifications

CA246260

rs_771614823

3 SubmittersRCV000179017 RCV001109344 RCV001430505

NM_152443.3(RDH12):c.300C>T (p.Ser100=)

SNV
Germline

Chr14:67725211

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 13
Retinitis pigmentosa
Leber congenital amaurosis

Criteria Provided
Conflicting Classifications

CA246262

rs_746513362

4 SubmittersRCV000179018 RCV001088243 RCV001109346 RCV001275428

NM_000180.4(GUCY2D):c.1513C>T (p.Leu505=)

SNV
Germline

Chr17:8007475

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 1
Cone-rod dystrophy 6

Criteria Provided
Conflicting Classifications

CA246545

rs_146849545

2 SubmittersRCV000179271 RCV001081206

NM_014336.5(AIPL1):c.971G>T (p.Arg324Leu)

SNV
Germline

Chr17:6425644

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 4
Retinitis pigmentosa
Leber congenital amaurosis 4
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA246741

rs_150427474

8 SubmittersRCV000723621 RCV000765381 RCV001080307 RCV001124292 RCV004816300

NM_018418.5(SPATA7):c.815G>A (p.Arg272Gln)

SNV
Germline

Chr14:88426674

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa
Leber congenital amaurosis 3

Criteria Provided
Conflicting Classifications

CA246774

rs_34682727

3 SubmittersRCV000179503 RCV000289051 RCV000642677

NM_025114.4(CEP290):c.343A>G (p.Asn115Asp)

SNV
Germline

Chr12:88136741

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Senior-Loken syndrome 6
Condition: not provided
not specified
CEP290-related disorder
Bardet-Biedl syndrome 14
Joubert syndrome 5
Leber congenital amaurosis 10
Meckel syndrome, type 4
Leber congenital amaurosis 10
Joubert syndrome 5
Meckel syndrome, type 4
Senior-Loken syndrome 6
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA246815

rs_140236736

7 SubmittersRCV001085617 RCV001112634 RCV000179537 RCV003488430 RCV004539683 RCV001112630 RCV001112631 RCV001112632 RCV001112633 RCV003227695 RCV003888636

NM_025114.4(CEP290):c.341G>A (p.Arg114His)

SNV
Germline

Chr12:88136743

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Leber congenital amaurosis
Joubert syndrome 5
Leber congenital amaurosis 10
Joubert syndrome 5
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
CEP290-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA246817

rs_150296134

13 SubmittersRCV000724859 RCV000179538 RCV001275047 RCV001526756 RCV005008108 RCV001082749 RCV004537490 RCV005305978

NM_201253.3(CRB1):c.2462C>T (p.Thr821Met)

SNV
Germline

Chr1:197427787

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA247395

rs_142857810

8 SubmittersRCV000488061 RCV001087243 RCV001563786 RCV001376275 RCV003888637

NM_001122769.3(LCA5):c.2026G>T (p.Asp676Tyr)

SNV
Germline

Chr6:79487072

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis
Leber congenital amaurosis 5

Criteria Provided
Conflicting Classifications

CA248276

rs_143582502

4 SubmittersRCV000180711 RCV001272068 RCV001335589

NM_025114.4(CEP290):c.4243G>T (p.Glu1415Ter)

SNV
Germline

Chr12:88086450

Likely pathogenic

Leber congenital amaurosis 10
Bardet-Biedl syndrome
Meckel syndrome, type 4
Senior-Loken syndrome 6
Joubert syndrome 5

No Assertion Criteria Provided

CA347348

rs_797044604

1 SubmittersRCV000192446

NM_201253.3(CRB1):c.2227G>C (p.Val743Leu)

SNV
Germline

Chr1:197427552

Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA279025

rs_863224862

2 SubmittersRCV000199723 RCV001580469

NM_002242.4(KCNJ13):c.458C>T (p.Thr153Ile)

SNV
Germline

Chr2:232770905

Pathogenic/Likely pathogenic

Leber congenital amaurosis 16
Leber congenital amaurosis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA278972

rs_863224884

3 SubmittersRCV000197888 RCV000515663 RCV005090017

NM_000554.6(CRX):c.124G>A (p.Glu42Lys)

SNV
Germline

Chr19:47836266

Conflicting classifications of pathogenicity

Leber congenital amaurosis 7
Retinal dystrophy
Leber congenital amaurosis 7
Cone-rod dystrophy 2

Criteria Provided
Conflicting Classifications

CA278974

rs_863224863

4 SubmittersRCV000197997 RCV001075515 RCV002517299

NM_025114.4(CEP290):c.5932C>T (p.Arg1978Ter)

SNV
Germline

Chr12:88071373

Pathogenic

Joubert syndrome 5
Condition: not provided
Bardet-Biedl syndrome 14
Nephronophthisis
Joubert syndrome
Meckel-Gruber syndrome
Leber congenital amaurosis 10
Retinal dystrophy
Joubert syndrome 5
Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA277735

rs_371525247

8 SubmittersRCV000201627 RCV000598256 RCV003468924 RCV001382359 RCV004798806 RCV004816348 RCV005003554

NM_025114.4(CEP290):c.5344C>T (p.Arg1782Ter)

SNV
Germline

Chr12:88079112

Pathogenic

Joubert syndrome 5
Condition: not provided
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Joubert syndrome 5
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Bardet-Biedl syndrome 14
CEP290-related disorder
Meckel syndrome, type 4
Senior-Loken syndrome 6
Joubert syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA277810

rs_575767207

9 SubmittersRCV000201766 RCV000598977 RCV000763310 RCV001058542 RCV003468923 RCV004732784 RCV005623073 RCV005361163

NM_025114.4(CEP290):c.4882C>T (p.Gln1628Ter)

SNV
Germline

Chr12:88083161

Pathogenic

Joubert syndrome 5
Cystic renal dysplasia
Occipital encephalocele
Blindness
Global developmental delay
Condition: not provided
Meckel syndrome, type 4
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Joubert syndrome 5
Leber congenital amaurosis
Inborn genetic diseases
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
CEP290-related disorder
Bardet-Biedl syndrome 14
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA277760

rs_376493409

12 SubmittersRCV000201672 RCV000626966 RCV000414892 RCV000493605 RCV000763311 RCV001271568 RCV002519581 RCV000806654 RCV004732783 RCV003462354 RCV004816347

NM_025114.4(CEP290):c.4522C>T (p.Arg1508Ter)

SNV
Germline

Chr12:88084768

Pathogenic

Joubert syndrome 5
Condition: not provided
Leber congenital amaurosis
Nephronophthisis
Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 4
Leber congenital amaurosis 10
Bardet-Biedl syndrome 14
Joubert syndrome 5
Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA277724

rs_749439750

14 SubmittersRCV000201597 RCV000521437 RCV001828040 RCV001036850 RCV003155122 RCV002250594 RCV003468926 RCV002485329 RCV004816349

NM_025114.4(CEP290):c.4393C>T (p.Arg1465Ter)

SNV
Germline

Chr12:88086083

Pathogenic

Joubert syndrome 5
Meckel syndrome, type 4
Joubert syndrome 5
Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Occipital encephalocele
Leber congenital amaurosis
Nephronophthisis
Joubert syndrome
Meckel-Gruber syndrome
Condition: not provided
Leber congenital amaurosis 10
CEP290-related disorder
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA277705

rs_539400286

16 SubmittersRCV000201563 RCV000502726 RCV000763314 RCV001030764 RCV001002937 RCV000816913 RCV001529566 RCV001589085 RCV004732782 RCV003468919

NM_025114.4(CEP290):c.2343T>C (p.Asn781=)

SNV
Germline

Chr12:88111226

Conflicting classifications of pathogenicity

Joubert syndrome 5
Retinal dystrophy
Nephronophthisis
Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome 5
Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA277728

rs_748034744

5 SubmittersRCV000201605 RCV001074504 RCV001471584 RCV005003555 RCV004975329

NM_025114.4(CEP290):c.1623+1G>A

SNV
Germline

Chr12:88118642

Pathogenic

Joubert syndrome 5
Nephronophthisis
Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Joubert syndrome 5
Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA279529

rs_863225186

5 SubmittersRCV000201746 RCV001044809 RCV001808559 RCV003468922 RCV005008141

NM_000554.6(CRX):c.449C>G (p.Ser150Ter)

SNV
Germline

Chr19:47839516

Pathogenic/Likely pathogenic

Benign concentric annular macular dystrophy
Condition: not provided
Leber congenital amaurosis 7
Cone-rod dystrophy 2

Criteria Provided
Multiple Submitters
No Conflicts

CA339650

rs_864309706

3 SubmittersRCV000203264 RCV004721295 RCV001208760

NM_020366.4(RPGRIP1):c.808A>G (p.Ile270Val)

SNV
Germline

Chr14:21307738

Conflicting classifications of pathogenicity

Anophthalmia-microphthalmia syndrome
Condition: not provided
not specified
Cone-rod dystrophy 13
Leber congenital amaurosis 6
Leber congenital amaurosis 6
Cone-rod dystrophy 13
RPGRIP1-related disorder

Criteria Provided
Conflicting Classifications

CA071653

rs_372615343

6 SubmittersRCV000207372 RCV000384797 RCV001002218 RCV001086986 RCV001800533 RCV001800534 RCV003955239

NM_015041.3(CLUAP1):c.817C>T (p.Leu273Phe)

SNV
Germline

Chr16:3523261

Pathogenic

Leber congenital amaurosis
Toriello-Lacassie-Droste syndrome

Criteria Provided
Single Submitter

CA358306

rs_751218423

2 SubmittersRCV000210897 RCV000210001

NM_002242.4(KCNJ13):c.158G>A (p.Trp53Ter)

SNV
Germline

Chr2:232771205

Pathogenic

Leber congenital amaurosis 16

No Assertion Criteria Provided

CA358744

rs_869320631

2 SubmittersRCV000210439

NM_201253.3(CRB1):c.2714G>A (p.Arg905Gln)

SNV
Germline

Chr1:197429486

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Retinal dystrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis

Criteria Provided
Conflicting Classifications

CA1312195

rs_114052315

5 SubmittersRCV000262643 RCV000329706 RCV000490294 RCV003888643 RCV000946241 RCV001275655

NM_025114.4(CEP290):c.251-11T>A

SNV
Germline

Chr12:88139202

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Leber congenital amaurosis 10
Bardet-Biedl syndrome 14
Joubert syndrome 5
Meckel syndrome, type 4
Senior-Loken syndrome 6
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA6712862

rs_200666995

7 SubmittersRCV000224686 RCV000244417 RCV001109953 RCV001109955 RCV001109952 RCV001109954 RCV001109951 RCV001518146 RCV004529386

NM_201253.3(CRB1):c.2308G>A (p.Gly770Ser)

SNV
Germline

Chr1:197427633

Pathogenic/Likely pathogenic

Retinal dystrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA1312098

rs_767648174

11 SubmittersRCV000225453 RCV001069480 RCV001376283 RCV001833240 RCV003454681 RCV003454682 RCV005008180

NM_201253.3(CRB1):c.2833G>A (p.Gly945Arg)

SNV
Germline

Chr1:197429605

Conflicting classifications of pathogenicity

Retinal dystrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Conflicting Classifications

CA10581629

rs_749746650

3 SubmittersRCV000225460 RCV002516254

NM_201253.3(CRB1):c.2869C>T (p.Gln957Ter)

SNV
Germline

Chr1:197434732

Pathogenic

Retinal dystrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA10581631

rs_878853371

2 SubmittersRCV000225597 RCV001854803

NM_201253.3(CRB1):c.3017C>T (p.Ser1006Phe)

SNV
Germline

Chr1:197434880

Pathogenic/Likely pathogenic

Retinal dystrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA10581632

rs_878853367

4 SubmittersRCV000225544 RCV002519764 RCV005008179

NM_000329.3(RPE65):c.726-2A>C

SNV
Germline

Chr1:68439325

Pathogenic

Retinal dystrophy
Retinitis pigmentosa 20
Leber congenital amaurosis 2
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA10581648

rs_878853372

3 SubmittersRCV000225374 RCV003765455 RCV005252828

NM_025114.4(CEP290):c.1781T>A (p.Leu594Ter)

SNV
Germline

Chr12:88117076

Pathogenic

Retinal dystrophy
Condition: not provided
Leber congenital amaurosis
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6
Joubert syndrome 5
Bardet-Biedl syndrome 14
CEP290-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA6712475

rs_371496675

7 SubmittersRCV000225634 RCV000522611 RCV001274126 RCV001389936 RCV002500754 RCV003463626 RCV004532829

NM_025114.4(CEP290):c.297+1G>T

SNV
Germline

Chr12:88139144

Pathogenic/Likely pathogenic

Retinal dystrophy
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Condition: not provided
Leber congenital amaurosis
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6
Joubert syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA10581686

rs_878853360

7 SubmittersRCV000225517 RCV001223284 RCV001782716 RCV001833239 RCV003469116 RCV003155133 RCV005003571

NM_020366.4(RPGRIP1):c.1303A>T (p.Lys435Ter)

SNV
Germline

Chr14:21317847

Pathogenic

Retinal dystrophy
Leber congenital amaurosis 6

Criteria Provided
Single Submitter

CA10581688

rs_878853392

2 SubmittersRCV000225543 RCV001198056

NM_020366.4(RPGRIP1):c.2314C>T (p.Gln772Ter)

SNV
Germline

Chr14:21325330

Pathogenic

Retinal dystrophy
Cone-rod dystrophy 13
Leber congenital amaurosis 6

Criteria Provided
Single Submitter

CA7089216

rs_577932201

2 SubmittersRCV000225680 RCV002516255

NM_152443.3(RDH12):c.848+2T>C

SNV
Germline

Chr14:67729382

Pathogenic/Likely pathogenic

Retinal dystrophy
Leber congenital amaurosis 13
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA10581695

rs_878853338

5 SubmittersRCV000225656 RCV001206727 RCV001833238

NM_152443.3(RDH12):c.910T>C (p.Trp304Arg)

SNV
Germline

Chr14:67733807

Pathogenic/Likely pathogenic

Retinal dystrophy
Leber congenital amaurosis 13
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA10581696

rs_878853339

5 SubmittersRCV000225474 RCV001053170 RCV001828100

NM_000180.4(GUCY2D):c.380C>T (p.Pro127Leu)

SNV
Germline

Chr17:8003427

Conflicting classifications of pathogenicity

Retinal dystrophy
Leber congenital amaurosis 1
Cone-rod dystrophy 6

Criteria Provided
Conflicting Classifications

CA10581703

rs_878853343

3 SubmittersRCV000225589 RCV002516252

NM_025114.4(CEP290):c.6870T>C (p.Asn2290=)

SNV
Germline

Chr12:88055666

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome 5
Leber congenital amaurosis 10
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Meckel syndrome, type 4
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA6711411

rs_572443869

3 SubmittersRCV000226860 RCV001109945 RCV001109947 RCV001109948 RCV001109944 RCV001109946 RCV004725118

NM_025114.4(CEP290):c.4938A>G (p.Lys1646=)

SNV
Germline

Chr12:88083105

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6
Joubert syndrome 5
Leber congenital amaurosis
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA6711827

rs_371582975

4 SubmittersRCV000225844 RCV000763863 RCV001273065 RCV004529415

NM_025114.4(CEP290):c.2551G>A (p.Val851Ile)

SNV
Germline

Chr12:88107031

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6
Joubert syndrome 5
Leber congenital amaurosis
Condition: not provided
Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6
Joubert syndrome 5
Inborn genetic diseases
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA6712316

rs_764963626

8 SubmittersRCV000228050 RCV000763866 RCV001271583 RCV002274949 RCV003227727 RCV002518359 RCV004529413

NM_025114.4(CEP290):c.5506A>G (p.Ile1836Val)

SNV
Germline

Chr12:88077777

Conflicting classifications of pathogenicity

not specified
Meckel syndrome, type 4
Condition: not provided
Senior-Loken syndrome 6
Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome
Bardet-Biedl syndrome 14
Joubert syndrome 5
Leber congenital amaurosis 10
Leber congenital amaurosis

Criteria Provided
Conflicting Classifications

CA6711707

rs_11104729

11 SubmittersRCV000246283 RCV000391752 RCV000514061 RCV000402056 RCV001084053 RCV000297940 RCV000338834 RCV000342377 RCV001828148

NM_025114.4(CEP290):c.4806G>A (p.Thr1602=)

SNV
Germline

Chr12:88083853

Conflicting classifications of pathogenicity

not specified
Meckel syndrome, type 4
Joubert syndrome 5
Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Leber congenital amaurosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6711863

rs_201614215

8 SubmittersRCV000243671 RCV000270848 RCV000383188 RCV000860688 RCV000283968 RCV000328558 RCV000338967 RCV001833282 RCV001546981

NM_025114.4(CEP290):c.1669C>T (p.Arg557Cys)

SNV
Germline

Chr12:88118525

Conflicting classifications of pathogenicity

not specified
Nephronophthisis
Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome 5
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Leber congenital amaurosis 10
Meckel syndrome, type 4
Joubert syndrome 5
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6712494

rs_561018129

5 SubmittersRCV000249364 RCV001241555 RCV001195819 RCV005008220 RCV005318354

NM_025114.4(CEP290):c.1558T>C (p.Phe520Leu)

SNV
Germline

Chr12:88118708

Conflicting classifications of pathogenicity

not specified
Nephronophthisis
Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 4
Senior-Loken syndrome 6
Condition: not provided
Bardet-Biedl syndrome 14
Joubert syndrome 5
Leber congenital amaurosis 10

Criteria Provided
Conflicting Classifications

CA6712524

rs_147371999

8 SubmittersRCV000254461 RCV001086907 RCV001109701 RCV001109703 RCV001572697 RCV001113718 RCV001113719 RCV001109702

NM_025114.4(CEP290):c.1298A>G (p.Asp433Gly)

SNV
Germline

Chr12:88121058

Conflicting classifications of pathogenicity

not specified
Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome
Condition: not provided
Leber congenital amaurosis 10
Leber congenital amaurosis
Bardet-Biedl syndrome 14
Joubert syndrome 5
Senior-Loken syndrome 6
Meckel syndrome, type 4

Criteria Provided
Conflicting Classifications

CA6712583

rs_200211587

9 SubmittersRCV000244107 RCV000860381 RCV001311004 RCV001113799 RCV001275038 RCV001109774 RCV001113800 RCV001113801 RCV001113802

NM_020366.4(RPGRIP1):c.1920C>T (p.Ala640=)

SNV
Germline

Chr14:21324775

Conflicting classifications of pathogenicity

not specified
Cone-rod dystrophy 13
Leber congenital amaurosis 6
Leber congenital amaurosis 6
Cone-rod dystrophy 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7089121

rs_368434311

5 SubmittersRCV000246883 RCV000388083 RCV000333550 RCV000952570 RCV003401208

NM_014336.5(AIPL1):c.-17C>A

SNV
Germline

Chr17:6435121

Conflicting classifications of pathogenicity

not specified
Retinitis Pigmentosa, Recessive
Retinitis Pigmentosa, Dominant
Leber congenital amaurosis 4

Criteria Provided
Conflicting Classifications

CA8328687

rs_188246267

2 SubmittersRCV000251131 RCV000296424 RCV000325640 RCV000382676

NM_201253.3(CRB1):c.584G>T (p.Cys195Phe)

SNV
Germline

Chr1:197328935

Pathogenic/Likely pathogenic

Condition: not provided
Macular dystrophy
Retinal dystrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA1311659

rs_764256655

9 SubmittersRCV000255600 RCV000656138 RCV001075823 RCV001040337 RCV001542640 RCV003454774 RCV002500956 RCV003454773

NM_022787.4(NMNAT1):c.507G>A (p.Trp169Ter)

SNV
Germline

Chr1:9982368

Pathogenic

Leber congenital amaurosis 9
Condition: not provided
NMNAT1-related disorder
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA579271

rs_371526758

6 SubmittersRCV000030768 RCV000255071 RCV004757984 RCV004649113

NM_201253.3(CRB1):c.1043G>A (p.Cys348Tyr)

SNV
Germline

Chr1:197356885

Likely pathogenic

Leber congenital amaurosis 8

No Assertion Criteria Provided

CA10588916

rs_886039871

1 SubmittersRCV000256380

NM_025114.4(CEP290):c.1936C>T (p.Gln646Ter)

SNV
Germline

Chr12:88114536

Pathogenic

Condition: not provided
Nephronophthisis
Joubert syndrome
Meckel-Gruber syndrome
Retinal dystrophy
Joubert syndrome 5
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Leber congenital amaurosis 10
Meckel syndrome, type 4
Joubert syndrome 5
Leber congenital amaurosis
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA6712427

rs_780225183

8 SubmittersRCV000313260 RCV000636991 RCV001075417 RCV001199213 RCV002500965 RCV001833301 RCV003463734

NM_020366.4(RPGRIP1):c.2668C>T (p.Arg890Ter)

SNV
Germline

Chr14:21326131

Pathogenic

Condition: not provided
Leber congenital amaurosis 6
Cone-rod dystrophy 13

Criteria Provided
Multiple Submitters
No Conflicts

CA7089317

rs_780587095

2 SubmittersRCV000298896 RCV002518810

NM_025114.4(CEP290):c.1092T>G (p.Ile364Met)

SNV
Germline

Chr12:88125343

Conflicting classifications of pathogenicity

Leber congenital amaurosis 10
Bardet-Biedl syndrome 14
Joubert syndrome 5
Senior-Loken syndrome 6
Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 4
CEP290-related disorder
Inborn genetic diseases
Leber congenital amaurosis
not specified
Condition: not provided
Kidney disorder
Stuve-Wiedemann syndrome 2
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA6712623

rs_201988582

14 SubmittersRCV000280320 RCV000342452 RCV000396707 RCV000320212 RCV000637003 RCV000374721 RCV000714822 RCV001265795 RCV001275039 RCV000354111 RCV001580478 RCV002294212 RCV003319345 RCV001589313

NM_025114.4(CEP290):c.2722C>T (p.Arg908Ter)

SNV
Germline

Chr12:88106770

Pathogenic

Condition: not provided
Cone-rod dystrophy
Joubert syndrome 1
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Leber congenital amaurosis 10
Meckel syndrome, type 4
Joubert syndrome 5
Nephronophthisis
Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome 5
Bardet-Biedl syndrome 14
CEP290-related disorder
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA10603872

rs_886042153

11 SubmittersRCV000382757 RCV000787815 RCV000988885 RCV002479997 RCV001380938 RCV003447521 RCV003469220 RCV002222465 RCV004816477

NM_000329.3(RPE65):c.331C>T (p.Pro111Ser)

SNV
Germline

Chr1:68444798

Pathogenic

Condition: not provided
Leber congenital amaurosis 2
Leber congenital amaurosis 2
Retinitis pigmentosa 20
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA10603953

rs_886042220

4 SubmittersRCV000288725 RCV004567825 RCV002519096 RCV003765588

NM_025114.4(CEP290):c.181-2A>G

SNV
Germline

Chr12:88139566

Pathogenic/Likely pathogenic

Condition: not provided
Nephronophthisis
Joubert syndrome
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Leber congenital amaurosis 10
Meckel syndrome, type 4
Joubert syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA10604124

rs_886042359

4 SubmittersRCV000262913 RCV001859558 RCV003469222 RCV005008234

NM_025114.4(CEP290):c.5803G>T (p.Glu1935Ter)

SNV
Germline

Chr12:88071833

Pathogenic/Likely pathogenic

Leber congenital amaurosis
Bardet-Biedl syndrome 14
CEP290-related disorder
Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10604125

rs_886042360

6 SubmittersRCV001199656 RCV003469223 RCV004732816 RCV001384490 RCV000593831

NM_025114.4(CEP290):c.4476A>G (p.Glu1492=)

SNV
Germline

Chr12:88084814

Conflicting classifications of pathogenicity

not specified
Nephronophthisis
Joubert syndrome
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14
Joubert syndrome 5
Meckel syndrome, type 4
Senior-Loken syndrome 6
Condition: not provided
Leber congenital amaurosis 10

Criteria Provided
Conflicting Classifications

CA6711925

rs_181248369

4 SubmittersRCV000276958 RCV000863632 RCV001113145 RCV001113143 RCV001114512 RCV001114513 RCV001697702 RCV001113144

NM_020366.4(RPGRIP1):c.1753C>T (p.Pro585Ser)

SNV
Germline

Chr14:21321995

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 6
Cone-rod dystrophy 13
not specified
Leber congenital amaurosis 6
Cone-rod dystrophy 13
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA7089060

rs_147586703

11 SubmittersRCV000325954 RCV001111169 RCV001800646 RCV002282101 RCV000763912 RCV004816491

NM_001164688.2(RD3):c.168C>T (p.Thr56=)

SNV
Germline

Chr1:211481248

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 12

Criteria Provided
Conflicting Classifications

CA1381137

rs_146420268

2 SubmittersRCV000325586 RCV001085803

NM_001164688.2(RD3):c.498C>T (p.Ile166=)

SNV
Germline

Chr1:211479126

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 12
RD3-related disorder

Criteria Provided
Conflicting Classifications

CA1381055

rs_779584830

3 SubmittersRCV000302722 RCV001446128 RCV003955457

NM_020366.4(RPGRIP1):c.2284C>T (p.Leu762=)

SNV
Germline

Chr14:21325300

Conflicting classifications of pathogenicity

Cone-rod dystrophy 13
not specified
Leber congenital amaurosis 6
Cone-rod dystrophy 13
Leber congenital amaurosis 6
Retinal dystrophy
RPGRIP1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7089204

rs_145896974

11 SubmittersRCV000339400 RCV000303580 RCV000641902 RCV000396376 RCV004816497 RCV003920089 RCV001699333

NM_020366.4(RPGRIP1):c.542C>G (p.Ala181Gly)

SNV
Germline

Chr14:21302539

Conflicting classifications of pathogenicity

not specified
Cone-rod dystrophy 13
Leber congenital amaurosis 6
Cone-rod dystrophy 13
Leber congenital amaurosis 6
RPGRIP1-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7088688

rs_186266220

6 SubmittersRCV000276671 RCV000322396 RCV000358467 RCV000959229 RCV003940004 RCV005268582

NM_152443.3(RDH12):c.869T>G (p.Val290Gly)

SNV
Germline

Chr14:67733766

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis
Leber congenital amaurosis 13
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA7238874

rs_61740289

7 SubmittersRCV000293076 RCV001277208 RCV001041798 RCV001075352

NM_201253.3(CRB1):c.1182C>A (p.Cys394Ter)

SNV
Germline

Chr1:197421010

Pathogenic

Condition: not provided
Retinitis pigmentosa
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA10605094

rs_115352681

6 SubmittersRCV000322587 RCV000787574 RCV001202291 RCV003454792 RCV003454793

NM_001023570.4(IQCB1):c.214C>T (p.Arg72Ter)

SNV
Germline

Chr3:121828519

Pathogenic

Condition: not provided
Leber congenital amaurosis
Nephronophthisis
Senior-Loken syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA2567498

rs_201405662

7 SubmittersRCV000329866 RCV000504702 RCV001384418 RCV001535872

NM_201253.3(CRB1):c.2809G>A (p.Ala937Thr)

SNV
Germline

Chr1:197429581

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA1312210

rs_114630940

4 SubmittersRCV000376545 RCV001080703 RCV001275656 RCV003888680

NM_025114.4(CEP290):c.4437+1G>A

SNV
Germline

Chr12:88086038

Pathogenic/Likely pathogenic

Condition: not provided
CEP290-related disorder
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4
Joubert syndrome 5
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA6711940

rs_760915898

9 SubmittersRCV000498064 RCV000779117 RCV000473837 RCV000763313 RCV001271571

NM_201253.3(CRB1):c.3878+10A>G

SNV
Germline

Chr1:197438685

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Conflicting Classifications

CA10605364

rs_886043311

2 SubmittersRCV000325162 RCV001395903

NM_001001557.4(GDF6):c.725C>G (p.Ala242Gly)

SNV
Germline

Chr8:96145206

Conflicting classifications of pathogenicity

Condition: not provided
Klippel-Feil syndrome 1, autosomal dominant
Leber congenital amaurosis 17
Microphthalmia, isolated, with coloboma 6
Isolated microphthalmia 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10605452

rs_886043381

5 SubmittersRCV000344156 RCV001239678 RCV004021200

NM_018418.5(SPATA7):c.757C>T (p.Leu253=)

SNV
Germline

Chr14:88426616

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 3

Criteria Provided
Conflicting Classifications

CA7298586

rs_138993523

2 SubmittersRCV000314426 RCV001088582

NM_003322.6(TULP1):c.846G>A (p.Pro282=)

SNV
Germline

Chr6:35506156

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Leber congenital amaurosis 15
TULP1-related disorder

Criteria Provided
Conflicting Classifications

CA3772766

rs_149980694

4 SubmittersRCV000271258 RCV000274503 RCV000302940 RCV004734937

NM_001122769.3(LCA5):c.1062C>G (p.Tyr354Ter)

SNV
Germline

Chr6:79491624

Pathogenic

Condition: not provided
Leber congenital amaurosis 5

Criteria Provided
Multiple Submitters
No Conflicts

CA10605770

rs_183261547

3 SubmittersRCV000373471 RCV003463767

NM_201253.3(CRB1):c.1470C>T (p.Gly490=)

SNV
Germline

Chr1:197421298

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis

Criteria Provided
Conflicting Classifications

CA1311926

rs_35193230

4 SubmittersRCV000398958 RCV001083735 RCV001271898

NM_001164688.2(RD3):c.135G>A (p.Arg45=)

SNV
Germline

Chr1:211481281

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 12

Criteria Provided
Conflicting Classifications

CA1381147

rs_374821619

2 SubmittersRCV000280498 RCV002059228

NM_001122769.3(LCA5):c.1215T>G (p.Val405=)

SNV
Germline

Chr6:79489100

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis

Criteria Provided
Conflicting Classifications

CA3900885

rs_41270545

3 SubmittersRCV000296587 RCV001271950

NM_018418.5(SPATA7):c.1446C>T (p.Asn482=)

SNV
Germline

Chr14:88438068

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 3
SPATA7-related disorder

Criteria Provided
Conflicting Classifications

CA7298813

rs_766017194

3 SubmittersRCV000294109 RCV001078728 RCV004535427

NM_201253.3(CRB1):c.2103C>G (p.Pro701=)

SNV
Germline

Chr1:197421931

Conflicting classifications of pathogenicity

Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Condition: not provided
Retinitis pigmentosa
Leber congenital amaurosis
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Conflicting Classifications

CA1312032

rs_144436610

7 SubmittersRCV000313740 RCV000363592 RCV000585260 RCV000407701 RCV001833395 RCV001082136

NM_201253.3(CRB1):c.2272A>T (p.Ser758Cys)

SNV
Germline

Chr1:197427597

Pathogenic/Likely pathogenic

Condition: not provided
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA1312087

rs_201700675

4 SubmittersRCV000371225 RCV001067120 RCV005008261 RCV001828271

NM_025114.4(CEP290):c.6645+1G>A

SNV
Germline

Chr12:88059897

Conflicting classifications of pathogenicity

Joubert syndrome 5
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Meckel syndrome, type 4
Joubert syndrome 5
Senior-Loken syndrome 6
Meckel syndrome, type 4
Joubert syndrome 5
Bardet-Biedl syndrome 14
Joubert syndrome 5
Senior-Loken syndrome 6
Meckel syndrome, type 4
Condition: not provided
Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome
Inborn genetic diseases
Bardet-Biedl syndrome 14
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA6711459

rs_201218801

11 SubmittersRCV002467720 RCV005355616 RCV001331377 RCV000454208 RCV001833396 RCV000497486 RCV000801486 RCV002522012 RCV003463776 RCV004537606

NM_025114.4(CEP290):c.6558T>G (p.His2186Gln)

SNV
Germline

Chr12:88059985

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Leber congenital amaurosis
CEP290-related disorder
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4
Joubert syndrome 5
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6711473

rs_772603458

7 SubmittersRCV000307481 RCV001368383 RCV001828277 RCV004537615 RCV005003616 RCV005305997

NM_201253.3(CRB1):c.1172-15T>A

SNV
Germline

Chr1:197420985

Conflicting classifications of pathogenicity

Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Retinitis Pigmentosa, Recessive

Criteria Provided
Conflicting Classifications

CA1311873

rs_375141011

2 SubmittersRCV000304813 RCV000336321 RCV001491386 RCV000401040

NM_201253.3(CRB1):c.2419C>T (p.Leu807=)

SNV
Germline

Chr1:197427744

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Conflicting Classifications

CA1312121

rs_371089348

2 SubmittersRCV000306210 RCV000391747 RCV000951208 RCV000359746

NM_201253.3(CRB1):c.3878+15A>T

SNV
Germline

Chr1:197438690

Conflicting classifications of pathogenicity

Leber congenital amaurosis 8
Retinitis pigmentosa
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Conflicting Classifications

CA1312424

rs_200217112

2 SubmittersRCV000279430 RCV000336749 RCV000400725 RCV001444410

NM_201253.3(CRB1):c.*393T>C

SNV
Germline

Chr1:197478272

Conflicting classifications of pathogenicity

Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA10608732

rs_147966959

1 SubmittersRCV000288696 RCV000351854 RCV000393295

NM_201253.3(CRB1):c.1172-12A>G

SNV
Germline

Chr1:197420988

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Conflicting Classifications

CA1311875

rs_146175509

2 SubmittersRCV000301371 RCV000355365 RCV000402144 RCV002519468

NM_201253.3(CRB1):c.2225T>C (p.Phe742Ser)

SNV
Germline

Chr1:197427550

Conflicting classifications of pathogenicity

Leber congenital amaurosis 8
Leber congenital amaurosis
Retinitis pigmentosa
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Conflicting Classifications

CA1312077

rs_140494140

3 SubmittersRCV000266368 RCV001828286 RCV000360994 RCV001242513

NM_201253.3(CRB1):c.2230C>A (p.Arg744=)

SNV
Germline

Chr1:197427555

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Leber congenital amaurosis 8
not specified
Pigmented paravenous retinochoroidal atrophy
Retinal dystrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1312078

rs_150412614

6 SubmittersRCV000281831 RCV000317013 RCV000418233 RCV000371666 RCV001073755 RCV000945740 RCV002292503

NM_201253.3(CRB1):c.2843-13C>T

SNV
Germline

Chr1:197434693

Conflicting classifications of pathogenicity

Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Retinitis pigmentosa
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Conflicting Classifications

CA1312233

rs_199808176

2 SubmittersRCV000291108 RCV000346171 RCV000380917 RCV001517111

NM_201253.3(CRB1):c.3228T>C (p.Asp1076=)

SNV
Germline

Chr1:197435091

Conflicting classifications of pathogenicity

Leber congenital amaurosis 8
Retinitis pigmentosa
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA1312297

rs_780576185

3 SubmittersRCV000274993 RCV000313687 RCV000370799 RCV000952421 RCV003888698

NM_201253.3(CRB1):c.3397G>A (p.Val1133Met)

SNV
Germline

Chr1:197435260

Conflicting classifications of pathogenicity

Leber congenital amaurosis 8
Hereditary macular dystrophy
Retinitis pigmentosa
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Conflicting Classifications

CA1312328

rs_116246250

3 SubmittersRCV000269228 RCV005355620 RCV000326351 RCV000383308 RCV000945327

NM_201253.3(CRB1):c.664G>A (p.Glu222Lys)

SNV
Germline

Chr1:197344292

Conflicting classifications of pathogenicity

Leber congenital amaurosis 8
Retinitis pigmentosa
Retinal dystrophy
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12
CRB1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1311688

rs_114846212

8 SubmittersRCV000285066 RCV000347681 RCV003888696 RCV000384124 RCV001271894 RCV003454863 RCV000945440 RCV004537638 RCV004567846

NM_201253.3(CRB1):c.1752C>T (p.Asp584=)

SNV
Germline

Chr1:197421580

Conflicting classifications of pathogenicity

Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Retinitis pigmentosa
Leber congenital amaurosis
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA1311978

rs_750442312

4 SubmittersRCV000334922 RCV000400239 RCV000893286 RCV000279892 RCV001833418 RCV003888697

NM_201253.3(CRB1):c.2010T>C (p.Cys670=)

SNV
Germline

Chr1:197421838

Conflicting classifications of pathogenicity

Leber congenital amaurosis 8
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Retinitis pigmentosa
Pigmented paravenous retinochoroidal atrophy

Criteria Provided
Conflicting Classifications

CA1312017

rs_201949837

2 SubmittersRCV000293851 RCV001435530 RCV000348791 RCV000401010

NM_201253.3(CRB1):c.2307C>T (p.Arg769=)

SNV
Germline

Chr1:197427632

Conflicting classifications of pathogenicity

Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa
Leber congenital amaurosis 8
not specified
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Condition: not provided
Leber congenital amaurosis

Criteria Provided
Conflicting Classifications

CA1312096

rs_151104285

8 SubmittersRCV000289291 RCV000352667 RCV000398025 RCV000423844 RCV000878020 RCV001699429 RCV001828287

NM_201253.3(CRB1):c.3695A>G (p.His1232Arg)

SNV
Germline

Chr1:197435558

Conflicting classifications of pathogenicity

Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Retinitis pigmentosa
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Retinal dystrophy
Hereditary macular dystrophy

Criteria Provided
Conflicting Classifications

CA1312377

rs_142090517

4 SubmittersRCV000272687 RCV000320691 RCV000377313 RCV000964610 RCV003888699 RCV005355621

NM_201253.3(CRB1):c.3750-3T>C

SNV
Germline

Chr1:197438544

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Condition: not provided
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Conflicting Classifications

CA1312396

rs_187937543

3 SubmittersRCV000285227 RCV000371471 RCV000342421 RCV000994219 RCV001239382

NM_001164688.2(RD3):c.468C>T (p.Arg156=)

SNV
Germline

Chr1:211479156

Conflicting classifications of pathogenicity

Leber congenital amaurosis 12

Criteria Provided
Conflicting Classifications

CA1381061

rs_148189077

2 SubmittersRCV000355876

NM_000329.3(RPE65):c.1243+10T>C

SNV
Germline

Chr1:68431461

Conflicting classifications of pathogenicity

Retinitis Pigmentosa, Recessive
Leber congenital amaurosis
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Retinitis pigmentosa 20

Criteria Provided
Conflicting Classifications

CA902243

rs_548537552

3 SubmittersRCV000287911 RCV000352172 RCV000923552 RCV001196851

NM_000329.3(RPE65):c.267C>T (p.Tyr89=)

SNV
Germline

Chr1:68444862

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Conflicting Classifications

CA902554

rs_372620785

2 SubmittersRCV000271691 RCV000384862 RCV001419413

NM_000329.3(RPE65):c.683A>C (p.Gln228Pro)

SNV
Germline

Chr1:68439603

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Leber congenital amaurosis 2
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA10611418

rs_886046510

3 SubmittersRCV000265981 RCV000321010 RCV003888702

NM_002242.4(KCNJ13):c.474G>A (p.Ala158=)

SNV
Germline

Chr2:232768800

Conflicting classifications of pathogenicity

Leber congenital amaurosis 16
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA2170027

rs_769501717

3 SubmittersRCV000395001 RCV001465808 RCV005582303

NM_004744.5(LRAT):c.258G>A (p.Gly86=)

SNV
Germline

Chr4:154744584

Conflicting classifications of pathogenicity

Leber congenital amaurosis 14
Leber congenital amaurosis
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10617244

rs_768389044

2 SubmittersRCV000290030 RCV000348458 RCV000384403 RCV005090562

NM_004744.5(LRAT):c.*2529C>T

SNV
Germline

Chr4:154751665

Conflicting classifications of pathogenicity

Leber congenital amaurosis
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA10617259

rs_185391295

1 SubmittersRCV000297399 RCV000335951 RCV000407189

NM_004744.5(LRAT):c.*98C>T

SNV
Germline

Chr4:154749234

Conflicting classifications of pathogenicity

Leber congenital amaurosis 14
Retinitis pigmentosa
Leber congenital amaurosis
Rod-cone dystrophy

Criteria Provided
Conflicting Classifications

CA10620306

rs_529360609

2 SubmittersRCV000277933 RCV000333107 RCV000354005 RCV001090045

NM_001122769.3(LCA5):c.-398G>C

SNV
Germline

Chr6:79537371

Conflicting classifications of pathogenicity

Leber congenital amaurosis 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10622755

rs_370115829

2 SubmittersRCV000377966 RCV002512086

NM_000883.4(IMPDH1):c.1338C>T (p.Ile446=)

SNV
Germline

Chr7:128395198

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Leber congenital amaurosis 11
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4470863

rs_199623010

2 SubmittersRCV000316639 RCV000376000 RCV000949146

NM_000883.4(IMPDH1):c.769A>G (p.Thr257Ala)

SNV
Germline

Chr7:128400350

Conflicting classifications of pathogenicity

Leber congenital amaurosis 11
Retinitis pigmentosa
Condition: not provided
Inborn genetic diseases
IMPDH1-related disorder

Criteria Provided
Conflicting Classifications

CA4471065

rs_144659635

7 SubmittersRCV000287544 RCV000347099 RCV000521919 RCV003168555 RCV004544684

NM_003322.6(TULP1):c.1341G>A (p.Leu447=)

SNV
Germline

Chr6:35500135

Conflicting classifications of pathogenicity

Retinitis Pigmentosa, Recessive
Leber congenital amaurosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3772568

rs_61734562

2 SubmittersRCV000350627 RCV000398421 RCV000945421

NM_003322.6(TULP1):c.499+12G>C

SNV
Germline

Chr6:35510849

Conflicting classifications of pathogenicity

Leber congenital amaurosis 15
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3772909

rs_185636479

2 SubmittersRCV000289767 RCV000344699 RCV001516160

NM_003322.6(TULP1):c.249G>A (p.Ala83=)

SNV
Germline

Chr6:35511748

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Leber congenital amaurosis 15
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3772980

rs_377105125

2 SubmittersRCV000305203 RCV000359869 RCV000945530

NM_001122769.3(LCA5):c.1497A>G (p.Leu499=)

SNV
Germline

Chr6:79487601

Conflicting classifications of pathogenicity

Leber congenital amaurosis 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3900819

rs_199557499

2 SubmittersRCV000388230 RCV001471048

NM_001122769.3(LCA5):c.1260G>A (p.Lys420=)

SNV
Germline

Chr6:79487838

Conflicting classifications of pathogenicity

Leber congenital amaurosis 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3900857

rs_141642284

3 SubmittersRCV000296412 RCV000879434

NM_001122769.3(LCA5):c.1080A>G (p.Glu360=)

SNV
Germline

Chr6:79491606

Conflicting classifications of pathogenicity

Leber congenital amaurosis 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3900950

rs_779447463

2 SubmittersRCV000285608 RCV002058633

NM_001122769.3(LCA5):c.586C>T (p.Leu196=)

SNV
Germline

Chr6:79513346

Conflicting classifications of pathogenicity

Leber congenital amaurosis 5
Condition: not provided
Leber congenital amaurosis

Criteria Provided
Conflicting Classifications

CA3901093

rs_114426854

3 SubmittersRCV000303267 RCV000878193 RCV001272079

NM_001001557.4(GDF6):c.1304C>T (p.Ala435Val)

SNV
Germline

Chr8:96144627

Conflicting classifications of pathogenicity

Klippel-Feil syndrome 1, autosomal dominant
Isolated microphthalmia 4
Multiple synostoses syndrome 4
Microphthalmia, isolated, with coloboma 6
Leber congenital amaurosis 17
Klippel-Feil syndrome 1, autosomal dominant
Isolated microphthalmia 4
Microphthalmia, isolated, with coloboma 6
Leber congenital amaurosis 17
Klippel-Feil syndrome 1, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4815342

rs_140782427

5 SubmittersRCV005355683 RCV001044903 RCV001027714

NM_003322.6(TULP1):c.823-8G>A

SNV
Germline

Chr6:35506287

Conflicting classifications of pathogenicity

Leber congenital amaurosis 15
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3772786

rs_372183095

2 SubmittersRCV000267212 RCV000361884 RCV001454626

NM_003322.6(TULP1):c.544A>G (p.Arg182Gly)

SNV
Germline

Chr6:35509884

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Leber congenital amaurosis 15
Condition: not provided
TULP1-related disorder

Criteria Provided
Conflicting Classifications

CA3772881

rs_142641513

3 SubmittersRCV000334230 RCV000388773 RCV000878438 RCV004530441

NM_001122769.3(LCA5):c.2028C>T (p.Asp676=)

SNV
Germline

Chr6:79487070

Conflicting classifications of pathogenicity

Leber congenital amaurosis 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3900736

rs_768387283

2 SubmittersRCV000358431 RCV001423821

NM_001122769.3(LCA5):c.1746C>T (p.Asn582=)

SNV
Germline

Chr6:79487352

Conflicting classifications of pathogenicity

Leber congenital amaurosis 5
Condition: not provided
Leber congenital amaurosis

Criteria Provided
Conflicting Classifications

CA3900782

rs_183011135

4 SubmittersRCV000260046 RCV000945780 RCV001272071

NM_001122769.3(LCA5):c.1097T>C (p.Leu366Ser)

SNV
Germline

Chr6:79491589

Conflicting classifications of pathogenicity

Inborn genetic diseases
Leber congenital amaurosis 5
Condition: not provided
Leber congenital amaurosis

Criteria Provided
Conflicting Classifications

CA3900944

rs_200988021

4 SubmittersRCV002524508 RCV000393430 RCV000946289 RCV001272073

NM_001122769.3(LCA5):c.1769A>G (p.Asp590Gly)

SNV
Germline

Chr6:79487329

Conflicting classifications of pathogenicity

Leber congenital amaurosis 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3900777

rs_771460783

3 SubmittersRCV000357229 RCV001517466

NM_001122769.3(LCA5):c.401A>C (p.Lys134Thr)

SNV
Germline

Chr6:79513531

Conflicting classifications of pathogenicity

Leber congenital amaurosis 5
Retinitis pigmentosa
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA3901128

rs_200395970

5 SubmittersRCV000400678 RCV001199700 RCV001861293 RCV001553635

NM_000883.4(IMPDH1):c.1653C>T (p.His551=)

SNV
Germline

Chr7:128394497

Conflicting classifications of pathogenicity

Leber congenital amaurosis 11
Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA4470765

rs_147882304

2 SubmittersRCV000363032 RCV001518880 RCV000396001

NM_000883.4(IMPDH1):c.888C>T (p.Ile296=)

SNV
Germline

Chr7:128398600

Conflicting classifications of pathogenicity

Leber congenital amaurosis 11
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4470993

rs_72624957

2 SubmittersRCV000381950 RCV000342291 RCV002058652

NM_000883.4(IMPDH1):c.146+9C>T

SNV
Germline

Chr7:128409747

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Leber congenital amaurosis 11
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4471278

rs_749118285

2 SubmittersRCV000313500 RCV000354378 RCV002523582

NM_000883.4(IMPDH1):c.*223C>G

SNV
Germline

Chr7:128392784

Conflicting classifications of pathogenicity

Leber congenital amaurosis 11
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA10628264

rs_543042380

1 SubmittersRCV000296114 RCV000332038

NM_000883.4(IMPDH1):c.1350C>T (p.Gly450=)

SNV
Germline

Chr7:128395186

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Leber congenital amaurosis 11
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4470861

rs_780213373

2 SubmittersRCV000261438 RCV000369708 RCV003556363

NM_001001557.4(GDF6):c.957C>A (p.Ala319=)

SNV
Germline

Chr8:96144974

Conflicting classifications of pathogenicity

Klippel-Feil syndrome 1, autosomal dominant
Klippel-Feil syndrome 1, autosomal dominant
Isolated microphthalmia 4
Microphthalmia, isolated, with coloboma 6
Leber congenital amaurosis 17

Criteria Provided
Conflicting Classifications

CA4815384

rs_757525366

2 SubmittersRCV000404155 RCV002058750

NM_001001557.4(GDF6):c.770C>T (p.Pro257Leu)

SNV
Germline

Chr8:96145161

Conflicting classifications of pathogenicity

Klippel-Feil syndrome 1, autosomal dominant
Condition: not provided
Isolated microphthalmia 4
Microphthalmia, isolated, with coloboma 6
Klippel-Feil syndrome 1, autosomal dominant
Leber congenital amaurosis 17
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA10631741

rs_886063208

5 SubmittersRCV000298662 RCV001200311 RCV001861334 RCV004022085 RCV004689724

NM_025114.4(CEP290):c.4087C>T (p.Arg1363Trp)

SNV
Germline

Chr12:88087887

Conflicting classifications of pathogenicity

Joubert syndrome 5
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Senior-Loken syndrome 6
Leber congenital amaurosis 10
Condition: not provided
Leber congenital amaurosis
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Kidney disorder
Retinal dystrophy
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA6712028

rs_181121175

8 SubmittersRCV000288370 RCV000291084 RCV000345714 RCV000389733 RCV000400374 RCV000548918 RCV001273074 RCV001085312 RCV002294263 RCV003888722 RCV004537751

NM_025114.4(CEP290):c.1549T>C (p.Leu517=)

SNV
Germline

Chr12:88118717

Conflicting classifications of pathogenicity

Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Joubert syndrome 5
Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA6712526

rs_752942122

3 SubmittersRCV000305920 RCV000299546 RCV000335728 RCV000360538 RCV000398619 RCV000728042 RCV001079199

NM_025114.4(CEP290):c.-41C>T

SNV
Germline

Chr12:88141913

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Joubert syndrome 5
Senior-Loken syndrome 6
not specified
Meckel syndrome, type 4
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA10633653

rs_759820573

3 SubmittersRCV000281237 RCV000330322 RCV000372028 RCV000338378 RCV000422198 RCV000387258 RCV004537755

NM_020366.4(RPGRIP1):c.658A>G (p.Met220Val)

SNV
Germline

Chr14:21303401

Conflicting classifications of pathogenicity

Cone-rod dystrophy 13
Leber congenital amaurosis 6
Leber congenital amaurosis 6
Cone-rod dystrophy 13

Criteria Provided
Conflicting Classifications

CA7088724

rs_371762530

3 SubmittersRCV000329549 RCV000384076 RCV000983971

NM_020366.4(RPGRIP1):c.2331C>T (p.Thr777=)

SNV
Germline

Chr14:21325347

Conflicting classifications of pathogenicity

Cone-rod dystrophy 13
Leber congenital amaurosis 6
Leber congenital amaurosis 6
Cone-rod dystrophy 13

Criteria Provided
Conflicting Classifications

CA7089218

rs_760801598

2 SubmittersRCV000304224 RCV000345062 RCV005213262

NM_020366.4(RPGRIP1):c.2334T>C (p.Asp778=)

SNV
Germline

Chr14:21325350

Conflicting classifications of pathogenicity

Cone-rod dystrophy 13
Leber congenital amaurosis 6
Cone-rod dystrophy 13
Leber congenital amaurosis 6

Criteria Provided
Conflicting Classifications

CA7089221

rs_188318743

3 SubmittersRCV000310166 RCV001513783 RCV000398658

NM_152443.3(RDH12):c.570C>T (p.Ser190=)

SNV
Germline

Chr14:67727102

Conflicting classifications of pathogenicity

Retinitis Pigmentosa, Recessive
Leber congenital amaurosis
Leber congenital amaurosis 13
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA7238750

rs_79869437

4 SubmittersRCV000346851 RCV001275433 RCV000951682 RCV001109349 RCV003888728

NM_152443.3(RDH12):c.701G>A (p.Arg234His)

SNV
Germline

Chr14:67729233

Conflicting classifications of pathogenicity

Leber congenital amaurosis 13
Condition: not provided
Macular dystrophy
Leber congenital amaurosis
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA7238798

rs_750636662

10 SubmittersRCV001243727 RCV001753776 RCV000993746 RCV001833459 RCV003324525

NM_018418.5(SPATA7):c.207G>A (p.Ser69=)

SNV
Germline

Chr14:88396172

Conflicting classifications of pathogenicity

Leber congenital amaurosis 3
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA7298426

rs_142913613

3 SubmittersRCV000347324 RCV000397832 RCV003888729

NM_025114.4(CEP290):c.7365A>G (p.Glu2455=)

SNV
Germline

Chr12:88049259

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Joubert syndrome 5
Meckel syndrome, type 4
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA6711281

rs_765709669

3 SubmittersRCV000280658 RCV000286608 RCV000339178 RCV000378693 RCV000401265 RCV001410302 RCV004537747

NM_025114.4(CEP290):c.7209+7T>G

SNV
Germline

Chr12:88050347

Conflicting classifications of pathogenicity

Meckel syndrome, type 4
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Joubert syndrome 5
Leber congenital amaurosis 10
Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA6711328

rs_745813087

3 SubmittersRCV000270876 RCV000283328 RCV000323734 RCV000322071 RCV000380635 RCV000729391 RCV001409432

NM_025114.4(CEP290):c.5764A>C (p.Ile1922Leu)

SNV
Germline

Chr12:88071872

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Leber congenital amaurosis 10
Joubert syndrome 5
Meckel syndrome, type 4
not specified
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6711648

rs_746949236

4 SubmittersRCV000303118 RCV000339249 RCV000347524 RCV000391502 RCV000398921 RCV000603796 RCV001341200 RCV005532627

NM_025114.4(CEP290):c.4064G>A (p.Arg1355His)

SNV
Germline

Chr12:88087910

Conflicting classifications of pathogenicity

Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Joubert syndrome 5
Senior-Loken syndrome 6
Leber congenital amaurosis 10
Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
Leber congenital amaurosis
Meckel syndrome, type 4
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Joubert syndrome 5
Bardet-Biedl syndrome 14
CEP290-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10638682

rs_548558619

7 SubmittersRCV000303931 RCV000339034 RCV000361178 RCV000391345 RCV000398556 RCV001590929 RCV001242966 RCV001835779 RCV002487370 RCV004544542 RCV005540054

NM_025114.4(CEP290):c.3574-15T>A

SNV
Germline

Chr12:88089502

Conflicting classifications of pathogenicity

Senior-Loken syndrome 6
Meckel syndrome, type 4
Leber congenital amaurosis 10
Joubert syndrome 5
Bardet-Biedl syndrome 14
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA6712114

rs_565414938

2 SubmittersRCV000267083 RCV000272452 RCV000321121 RCV000324529 RCV000378166 RCV001513375

NM_025114.4(CEP290):c.2174A>C (p.Glu725Ala)

SNV
Germline

Chr12:88111737

Conflicting classifications of pathogenicity

Meckel syndrome, type 4
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Joubert syndrome 5
Leber congenital amaurosis 10
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
Condition: not provided
Microcephaly
Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6
Joubert syndrome 5
Retinal dystrophy
CEP290-related disorder
Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Joubert syndrome 5

Criteria Provided
Conflicting Classifications

CA6712389

rs_375038986

9 SubmittersRCV000307295 RCV000310425 RCV000371328 RCV000365084 RCV000400672 RCV000861492 RCV001562789 RCV001252733 RCV002467728 RCV003888723 RCV004732842 RCV005003631

NM_025114.4(CEP290):c.54G>A (p.Leu18=)

SNV
Germline

Chr12:88141254

Conflicting classifications of pathogenicity

Joubert syndrome 5
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA10638700

rs_886049885

2 SubmittersRCV000295236 RCV000325527 RCV000352716 RCV000382505 RCV000386249 RCV001421212

NM_020366.4(RPGRIP1):c.50T>C (p.Ile17Thr)

SNV
Germline

Chr14:21288026

Conflicting classifications of pathogenicity

Leber congenital amaurosis 6
Cone-rod dystrophy 13
Leber congenital amaurosis 6
Cone-rod dystrophy 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7088532

rs_201384449

5 SubmittersRCV000285535 RCV000345131 RCV001079403 RCV000416234

NM_014336.5(AIPL1):c.*221G>A

SNV
Germline

Chr17:6425239

Conflicting classifications of pathogenicity

Retinitis Pigmentosa, Recessive
Leber congenital amaurosis 4
Retinitis Pigmentosa, Dominant

Criteria Provided
Conflicting Classifications

CA10640244

rs_112307858

1 SubmittersRCV000289957 RCV000347294 RCV000380964

NM_014336.5(AIPL1):c.1108C>T (p.Pro370Ser)

SNV
Germline

Chr17:6425507

Conflicting classifications of pathogenicity

Retinitis Pigmentosa, Dominant
Retinitis pigmentosa
Leber congenital amaurosis 4
Condition: not provided
Inborn genetic diseases
Leber congenital amaurosis 4
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA8328309

rs_139079107

6 SubmittersRCV000344923 RCV000394165 RCV001047506 RCV000591606 RCV002523002 RCV002487427 RCV004816569

NM_014336.5(AIPL1):c.377T>A (p.Met126Lys)

SNV
Germline

Chr17:6428406

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Leber congenital amaurosis 4
Retinitis Pigmentosa, Recessive
Retinal dystrophy
not specified

Criteria Provided
Conflicting Classifications

CA8328529

rs_761622978

4 SubmittersRCV000283711 RCV000343358 RCV000379251 RCV001074745 RCV003226280

NM_152443.3(RDH12):c.283C>T (p.Arg95Trp)

SNV
Germline

Chr14:67725194

Conflicting classifications of pathogenicity

Retinitis Pigmentosa, Recessive
Retinitis pigmentosa
Leber congenital amaurosis 13
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA7238660

rs_552516182

4 SubmittersRCV000381378 RCV001109345 RCV001850657 RCV003888726

NM_152443.3(RDH12):c.659-12T>C

SNV
Germline

Chr14:67729179

Conflicting classifications of pathogenicity

Retinitis Pigmentosa, Recessive
Leber congenital amaurosis 13
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA7238784

rs_77686476

2 SubmittersRCV000408169 RCV001510147 RCV001109350

NM_152443.3(RDH12):c.662C>T (p.Thr221Ile)

SNV
Germline

Chr14:67729194

Conflicting classifications of pathogenicity

Retinitis Pigmentosa, Recessive
Leber congenital amaurosis
Leber congenital amaurosis 13
Retinitis pigmentosa
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7238787

rs_769317754

4 SubmittersRCV000302468 RCV001275436 RCV000955105 RCV001111665 RCV002520913

NM_018418.5(SPATA7):c.387G>A (p.Pro129=)

SNV
Germline

Chr14:88426246

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Leber congenital amaurosis 3
not specified

Criteria Provided
Conflicting Classifications

CA7298529

rs_199727517

3 SubmittersRCV000389308 RCV000952248 RCV005434815

NM_025114.4(CEP290):c.7186G>T (p.Asp2396Tyr)

SNV
Germline

Chr12:88050377

Conflicting classifications of pathogenicity

Leber congenital amaurosis 10
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Joubert syndrome 5
Meckel syndrome, type 4
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
Leber congenital amaurosis
Condition: not provided
not specified
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA6711331

rs_189556433

7 SubmittersRCV000282628 RCV000295385 RCV000335271 RCV000374397 RCV000400288 RCV000465588 RCV001276480 RCV001545810 RCV001700050 RCV003888721

NM_025114.4(CEP290):c.5709+12A>G

SNV
Germline

Chr12:88077210

Conflicting classifications of pathogenicity

Leber congenital amaurosis 10
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Joubert syndrome 5
Meckel syndrome, type 4
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA6711673

rs_371010287

2 SubmittersRCV000259439 RCV000300620 RCV000304102 RCV000354211 RCV000355216 RCV002056336

NM_025114.4(CEP290):c.4151G>A (p.Arg1384His)

SNV
Germline

Chr12:88087823

Conflicting classifications of pathogenicity

Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Joubert syndrome 5
not specified
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
Leber congenital amaurosis
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA6712022

rs_143152287

5 SubmittersRCV000268181 RCV000303676 RCV000316272 RCV000354663 RCV000360821 RCV000603267 RCV001347081 RCV001273072 RCV004732840

NM_025114.4(CEP290):c.3790C>T (p.Arg1264Cys)

SNV
Germline

Chr12:88089271

Conflicting classifications of pathogenicity

Leber congenital amaurosis 10
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Senior-Loken syndrome 6
Joubert syndrome 5
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Leber congenital amaurosis
Condition: not provided
Retinitis pigmentosa
Retinal dystrophy
Inborn genetic diseases
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA6712084

rs_139998038

11 SubmittersRCV000276434 RCV000289191 RCV000327895 RCV000333827 RCV000381363 RCV000557002 RCV001273076 RCV001555535 RCV001590930 RCV001074452 RCV002520840 RCV004544543

NM_025114.4(CEP290):c.2616G>A (p.Ser872=)

SNV
Germline

Chr12:88106876

Conflicting classifications of pathogenicity

Senior-Loken syndrome 6
Joubert syndrome 5
Leber congenital amaurosis 10
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
not specified
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA6712296

rs_776360559

4 SubmittersRCV000282243 RCV000337086 RCV000350122 RCV000394763 RCV000399710 RCV000605884 RCV001245594 RCV004544544

NM_025114.4(CEP290):c.1908A>T (p.Lys636Asn)

SNV
Germline

Chr12:88115099

Conflicting classifications of pathogenicity

Leber congenital amaurosis 10
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Joubert syndrome 5
Meckel syndrome, type 4
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
Leber congenital amaurosis
Condition: not provided
Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6
Joubert syndrome 5

Criteria Provided
Conflicting Classifications

CA6712437

rs_199747962

5 SubmittersRCV000311480 RCV000315150 RCV000351341 RCV000357069 RCV000390499 RCV000860718 RCV001833458 RCV002461069 RCV002467729

NM_025114.4(CEP290):c.-33G>T

SNV
Germline

Chr12:88141905

Conflicting classifications of pathogenicity

Meckel syndrome, type 4
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Condition: not provided
Joubert syndrome 5

Criteria Provided
Conflicting Classifications

CA10642542

rs_139415563

2 SubmittersRCV000266217 RCV000309585 RCV000305052 RCV000357550 RCV001642965 RCV000402356

NM_000554.6(CRX):c.717C>A (p.Gly239=)

SNV
Germline

Chr19:47839784

Conflicting classifications of pathogenicity

Cone-rod dystrophy 2
Leber congenital amaurosis 7
Retinitis pigmentosa
Cone-rod dystrophy 2
Leber congenital amaurosis 7

Criteria Provided
Conflicting Classifications

CA10643043

rs_886054546

2 SubmittersRCV000261856 RCV000319418 RCV000371926 RCV002057520

NM_000554.6(CRX):c.*595C>T

SNV
Germline

Chr19:47840562

Conflicting classifications of pathogenicity

Cone-rod dystrophy 2
Leber congenital amaurosis 7
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA10643051

rs_111448395

1 SubmittersRCV000283255 RCV000342965 RCV000377666

NM_000554.6(CRX):c.*2039C>T

SNV
Germline

Chr19:47842006

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Leber congenital amaurosis 7
Cone-rod dystrophy 2

Criteria Provided
Conflicting Classifications

CA10643083

rs_189556251

1 SubmittersRCV000307672 RCV000401185 RCV000361147

NM_000554.6(CRX):c.*2539C>T

SNV
Germline

Chr19:47842506

Conflicting classifications of pathogenicity

Leber congenital amaurosis 7
Cone-rod dystrophy 2
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA10643087

rs_146417527

1 SubmittersRCV000282067 RCV000337066 RCV000395396

NM_025114.4(CEP290):c.4293G>A (p.Ala1431=)

SNV
Germline

Chr12:88086400

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Joubert syndrome 5
Meckel syndrome, type 4
Leber congenital amaurosis 10
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA6711985

rs_377614744

3 SubmittersRCV000271533 RCV000306869 RCV000328955 RCV000363839 RCV000376492 RCV000869776 RCV004537749

NM_025114.4(CEP290):c.1623+10G>T

SNV
Germline

Chr12:88118633

Conflicting classifications of pathogenicity

Leber congenital amaurosis 10
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Meckel syndrome, type 4
Joubert syndrome 5
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA6712516

rs_377529198

2 SubmittersRCV000272744 RCV000287480 RCV000327713 RCV000376587 RCV000382304 RCV000981128

NM_025114.4(CEP290):c.503G>A (p.Arg168His)

SNV
Germline

Chr12:88130558

Conflicting classifications of pathogenicity

Joubert syndrome 5
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6
Retinitis pigmentosa
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
Leber congenital amaurosis
not specified
CEP290-related disorder
Retinal dystrophy
CEP290-related ciliopathy

Criteria Provided
Conflicting Classifications

CA6712768

rs_200063017

8 SubmittersRCV000263394 RCV000285505 RCV000316286 RCV000355828 RCV000373256 RCV000787814 RCV000637006 RCV001275046 RCV003330639 RCV004537752 RCV003888725 RCV005355635

NM_020366.4(RPGRIP1):c.912C>T (p.Tyr304=)

SNV
Germline

Chr14:21310589

Conflicting classifications of pathogenicity

Cone-rod dystrophy 13
Leber congenital amaurosis 6
Leber congenital amaurosis 6
Cone-rod dystrophy 13

Criteria Provided
Conflicting Classifications

CA7088785

rs_568372341

2 SubmittersRCV000294353 RCV000349312 RCV005222889

NM_020366.4(RPGRIP1):c.1200G>A (p.Glu400=)

SNV
Germline

Chr14:21317744

Conflicting classifications of pathogenicity

Cone-rod dystrophy 13
Leber congenital amaurosis 6
Leber congenital amaurosis 6
Cone-rod dystrophy 13

Criteria Provided
Conflicting Classifications

CA7088904

rs_749098397

2 SubmittersRCV000301537 RCV000390467 RCV005213261

NM_020366.4(RPGRIP1):c.218+13C>G

SNV
Germline

Chr14:21294822

Conflicting classifications of pathogenicity

Cone-rod dystrophy 13
Leber congenital amaurosis 6
Leber congenital amaurosis 6
Cone-rod dystrophy 13
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7088596

rs_200225522

5 SubmittersRCV000291173 RCV000394793 RCV001512676 RCV000425637 RCV003656104

NM_020366.4(RPGRIP1):c.1197C>T (p.Asn399=)

SNV
Germline

Chr14:21317741

Conflicting classifications of pathogenicity

Cone-rod dystrophy 13
Leber congenital amaurosis 6
Leber congenital amaurosis 6
Cone-rod dystrophy 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7088903

rs_372186092

3 SubmittersRCV000300508 RCV000355383 RCV001088261 RCV000761864

NM_020366.4(RPGRIP1):c.1401A>G (p.Gln467=)

SNV
Germline

Chr14:21320111

Conflicting classifications of pathogenicity

Cone-rod dystrophy 13
Leber congenital amaurosis 6
Leber congenital amaurosis 6
Cone-rod dystrophy 13

Criteria Provided
Conflicting Classifications

CA7088958

rs_184853466

3 SubmittersRCV000266562 RCV000361207 RCV001470125

NM_018418.5(SPATA7):c.372+11A>G

SNV
Germline

Chr14:88416855

Conflicting classifications of pathogenicity

Leber congenital amaurosis 3
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA7298502

rs_757636745

2 SubmittersRCV000260674 RCV000355596

NM_018418.5(SPATA7):c.1216-4C>T

SNV
Germline

Chr14:88437834

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Leber congenital amaurosis 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7298777

rs_755958987

4 SubmittersRCV000313262 RCV000402357 RCV001699358

NM_018418.5(SPATA7):c.57G>T (p.Pro19=)

SNV
Germline

Chr14:88391418

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Leber congenital amaurosis 3

Criteria Provided
Conflicting Classifications

CA7298357

rs_367830780

2 SubmittersRCV000279037 RCV000886701

NM_018418.5(SPATA7):c.913-14T>A

SNV
Germline

Chr14:88429334

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Leber congenital amaurosis 3

Criteria Provided
Conflicting Classifications

CA7298648

rs_185459765

2 SubmittersRCV000283045 RCV000395762

NM_014336.5(AIPL1):c.*390G>T

SNV
Germline

Chr17:6425070

Conflicting classifications of pathogenicity

Leber congenital amaurosis 4
Retinitis Pigmentosa, Dominant
Retinitis Pigmentosa, Recessive

Criteria Provided
Conflicting Classifications

CA10646487

rs_182504714

1 SubmittersRCV000263799 RCV000316870 RCV000387721

NM_014336.5(AIPL1):c.*134G>T

SNV
Germline

Chr17:6425326

Conflicting classifications of pathogenicity

Retinitis Pigmentosa, Dominant
Leber congenital amaurosis 4
Retinitis Pigmentosa, Recessive

Criteria Provided
Conflicting Classifications

CA10646499

rs_2090068

1 SubmittersRCV000270465 RCV000306814 RCV000369874

NM_014336.5(AIPL1):c.616A>G (p.Ile206Val)

SNV
Germline

Chr17:6426907

Conflicting classifications of pathogenicity

Leber congenital amaurosis 4
Retinitis Pigmentosa, Recessive
Retinitis Pigmentosa, Dominant

Criteria Provided
Conflicting Classifications

CA8328457

rs_772911646

2 SubmittersRCV000300735 RCV000355535 RCV000400033

NM_000554.6(CRX):c.28C>G (p.His10Asp)

SNV
Germline

Chr19:47834471

Conflicting classifications of pathogenicity

Cone-rod dystrophy 2
Leber congenital amaurosis 7
Condition: not provided
Leber congenital amaurosis 7
Cone-rod dystrophy 2
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA9544368

rs_139340178

7 SubmittersRCV000280624 RCV000401704 RCV000878021 RCV001087610 RCV000787830 RCV004816570

NM_000554.6(CRX):c.*996C>G

SNV
Germline

Chr19:47840963

Conflicting classifications of pathogenicity

Leber congenital amaurosis 7
Cone-rod dystrophy 2
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA10648904

rs_550939154

1 SubmittersRCV000271568 RCV000328839 RCV000363813

NM_000554.6(CRX):c.*1917G>A

SNV
Germline

Chr19:47841884

Conflicting classifications of pathogenicity

Cone-rod dystrophy 2
Leber congenital amaurosis 7
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA10648925

rs_557773336

1 SubmittersRCV000278381 RCV000351076 RCV000389164

NM_000554.6(CRX):c.*2739G>A

SNV
Germline

Chr19:47842706

Conflicting classifications of pathogenicity

Cone-rod dystrophy 2
Leber congenital amaurosis 7
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA10648928

rs_149039830

1 SubmittersRCV000295144 RCV000335037 RCV000389522

NM_014336.5(AIPL1):c.*1178C>T

SNV
Germline

Chr17:6424282

Conflicting classifications of pathogenicity

Leber congenital amaurosis 4
Retinitis Pigmentosa, Dominant
Retinitis Pigmentosa, Recessive

Criteria Provided
Conflicting Classifications

CA10649826

rs_149460055

1 SubmittersRCV000283429 RCV000323291 RCV000380213

NM_014336.5(AIPL1):c.780C>T (p.His260=)

SNV
Germline

Chr17:6426619

Conflicting classifications of pathogenicity

Retinitis Pigmentosa, Recessive
Retinitis Pigmentosa, Dominant
Condition: not provided
Leber congenital amaurosis 4

Criteria Provided
Conflicting Classifications

CA8328403

rs_145304845

5 SubmittersRCV000267113 RCV000361638 RCV000878128 RCV001087156

NM_014336.5(AIPL1):c.414C>T (p.Asp138=)

SNV
Germline

Chr17:6428369

Conflicting classifications of pathogenicity

Retinitis Pigmentosa, Recessive
Leber congenital amaurosis 4
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA8328519

rs_565896898

2 SubmittersRCV000276531 RCV000326868 RCV000381302

NM_014336.5(AIPL1):c.97-15C>T

SNV
Germline

Chr17:6434113

Conflicting classifications of pathogenicity

Retinitis Pigmentosa, Dominant
Retinitis Pigmentosa, Recessive
Leber congenital amaurosis 4

Criteria Provided
Conflicting Classifications

CA8328627

rs_190887679

2 SubmittersRCV000259688 RCV000317213 RCV000355617

NM_014336.5(AIPL1):c.*1237C>T

SNV
Germline

Chr17:6424223

Conflicting classifications of pathogenicity

Retinitis Pigmentosa, Dominant
Retinitis Pigmentosa, Recessive
Leber congenital amaurosis 4

Criteria Provided
Conflicting Classifications

CA10650669

rs_139074266

1 SubmittersRCV000277065 RCV000298029 RCV000369144

NM_014336.5(AIPL1):c.*824G>C

SNV
Germline

Chr17:6424636

Conflicting classifications of pathogenicity

Retinitis Pigmentosa, Recessive
Leber congenital amaurosis 4
Retinitis Pigmentosa, Dominant

Criteria Provided
Conflicting Classifications

CA10650670

rs_145706166

1 SubmittersRCV000280028 RCV000372318 RCV000351354

NM_014336.5(AIPL1):c.*188G>A

SNV
Germline

Chr17:6425272

Conflicting classifications of pathogenicity

Retinitis Pigmentosa, Recessive
Retinitis Pigmentosa, Dominant
Leber congenital amaurosis 4

Criteria Provided
Conflicting Classifications

CA10650672

rs_1317185

1 SubmittersRCV000290656 RCV000340884 RCV000395852

NM_014336.5(AIPL1):c.785-11G>A

SNV
Germline

Chr17:6425841

Conflicting classifications of pathogenicity

Leber congenital amaurosis 4
Retinitis pigmentosa
Retinitis Pigmentosa, Dominant

Criteria Provided
Conflicting Classifications

CA8328384

rs_199772097

2 SubmittersRCV000302382 RCV000310663 RCV000398512

NM_014336.5(AIPL1):c.737A>C (p.Tyr246Ser)

SNV
Germline

Chr17:6426662

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Retinitis Pigmentosa, Dominant
Retinal dystrophy
Condition: not provided
Leber congenital amaurosis 4

Criteria Provided
Conflicting Classifications

CA8328414

rs_138585919

4 SubmittersRCV000332251 RCV000385713 RCV001075005 RCV003456394 RCV000981801

NM_014336.5(AIPL1):c.642+14G>A

SNV
Germline

Chr17:6426867

Conflicting classifications of pathogenicity

Retinitis Pigmentosa, Recessive
Retinitis Pigmentosa, Dominant
Leber congenital amaurosis 4

Criteria Provided
Conflicting Classifications

CA8328448

rs_188779461

2 SubmittersRCV000284443 RCV000339003 RCV000403542

NM_000554.6(CRX):c.*6G>A

SNV
Germline

Chr19:47839973

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Cone-rod dystrophy 2
Leber congenital amaurosis 7

Criteria Provided
Conflicting Classifications

CA9544590

rs_375770558

1 SubmittersRCV000283331 RCV000340719 RCV000383663

NM_000554.6(CRX):c.*118C>A

SNV
Germline

Chr19:47840085

Conflicting classifications of pathogenicity

Leber congenital amaurosis 7
Cone-rod dystrophy 2
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA10652624

rs_543729483

1 SubmittersRCV000293631 RCV000401350 RCV000348576

NM_000554.6(CRX):c.*767G>A

SNV
Germline

Chr19:47840734

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Leber congenital amaurosis 7
Cone-rod dystrophy 2

Criteria Provided
Conflicting Classifications

CA10652632

rs_544037698

1 SubmittersRCV000311981 RCV000352814 RCV000390415

NM_000554.6(CRX):c.*2137G>A

SNV
Germline

Chr19:47842104

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Cone-rod dystrophy 2
Leber congenital amaurosis 7

Criteria Provided
Conflicting Classifications

CA10652641

rs_181823708

1 SubmittersRCV000279799 RCV000318530 RCV000372070

NM_201253.3(CRB1):c.2506C>A (p.Pro836Thr)

SNV
Germline

Chr1:197427831

Pathogenic/Likely pathogenic

not specified
Leber congenital amaurosis 1
Retinal dystrophy
Retinitis pigmentosa 12
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8
Hereditary macular dystrophy
Condition: not provided
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
CRB1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA1312130

rs_116471343

14 SubmittersRCV000414087 RCV000986491 RCV001073689 RCV001376383 RCV001064315 RCV003475999 RCV005355703 RCV001810876 RCV005010304 RCV003137989 RCV004739713

NM_201253.3(CRB1):c.4061C>A (p.Ala1354Asp)

SNV
Germline

Chr1:197477719

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis

Criteria Provided
Conflicting Classifications

CA1312549

rs_760100325

3 SubmittersRCV000414607 RCV001207041 RCV001828387

NM_020366.4(RPGRIP1):c.3339+5G>A

SNV
Germline

Chr14:21334710

Likely pathogenic

Condition: not provided
Leber congenital amaurosis

Criteria Provided
Single Submitter

CA16042847

rs_1057518122

2 SubmittersRCV000413987 RCV000515742

NM_025114.4(CEP290):c.451C>T (p.Arg151Ter)

SNV
Germline

Chr12:88131209

Pathogenic/Likely pathogenic

Condition: not provided
Nephronophthisis
Joubert syndrome
Meckel-Gruber syndrome
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Leber congenital amaurosis 10
Joubert syndrome 5
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
not specified
Inborn genetic diseases
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA6712782

rs_757641323

9 SubmittersRCV000414162 RCV000552078 RCV002470852 RCV005010313 RCV000999862 RCV005540072 RCV003463818

NM_000329.3(RPE65):c.1338+1G>A

SNV
Germline

Chr1:68431281

Pathogenic

Abnormality of vision
Abnormal electroretinogram
Congenital blindness
Retinal degeneration
Retinitis pigmentosa 20
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis 2
Retinal dystrophy
Retinitis pigmentosa 87 with choroidal involvement
Retinitis pigmentosa 20
Leber congenital amaurosis 2
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA16043370

rs_1057518922

6 SubmittersRCV000415360 RCV001198362 RCV001066256 RCV003470368 RCV004816644 RCV005033948 RCV005252881

NM_000883.4(IMPDH1):c.928A>C (p.Thr310Pro)

SNV
Unknown

Chr7:128398560

Likely pathogenic

Retinitis pigmentosa
Leber congenital amaurosis 11

Criteria Provided
Single Submitter

CA16043423

rs_1057518949

1 SubmittersRCV000415244 RCV001198950

NM_025114.4(CEP290):c.2941C>T (p.Gln981Ter)

SNV
Germline

Chr12:88102888

Pathogenic/Likely pathogenic

Central hypotonia
Nystagmus
Molar tooth sign on MRI
Blindness
Joubert syndrome 5
Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Meckel syndrome, type 4
Leber congenital amaurosis 10
Bardet-Biedl syndrome 14
Joubert syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA16043473

rs_1057518822

4 SubmittersRCV000414899 RCV000415004 RCV001199375 RCV003766165 RCV003470364 RCV005004147

NM_000329.3(RPE65):c.130C>T (p.Arg44Ter)

SNV
Germline

Chr1:68446825

Pathogenic

Retinitis pigmentosa
Condition: not provided
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis
RPE65-related disorder
RPE65-related recessive retinopathy
Retinal dystrophy

Reviewed By Expert Panel

CA902588

rs_368088025

13 SubmittersRCV000787883 RCV000416243 RCV003470371 RCV000528380 RCV001275339 RCV001249416 RCV002466496 RCV003889879

NM_020366.4(RPGRIP1):c.268G>A (p.Val90Ile)

SNV
Germline

Chr14:21301015

Conflicting classifications of pathogenicity

Cone dystrophy
Condition: not provided
Leber congenital amaurosis 6
Cone-rod dystrophy 13
Leber congenital amaurosis 6
Cone-rod dystrophy 13
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA16043847

rs_1057519200

5 SubmittersRCV001199770 RCV000415874 RCV001359271 RCV001800663 RCV001800664 RCV004816650

NM_022787.4(NMNAT1):c.710G>A (p.Arg237His)

SNV
Germline

Chr1:9982571

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 9

Criteria Provided
Conflicting Classifications

CA579316

rs_368062092

2 SubmittersRCV000415779 RCV005252883

NM_201253.3(CRB1):c.2746C>T (p.Leu916Phe)

SNV
Germline

Chr1:197429518

Conflicting classifications of pathogenicity

Condition: not provided
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12
Inborn genetic diseases
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis

Criteria Provided
Conflicting Classifications

CA1312198

rs_140648074

6 SubmittersRCV000415891 RCV001270085 RCV001563885 RCV002521478 RCV001242512 RCV001563884 RCV001828390

NM_025114.4(CEP290):c.523C>A (p.Gln175Lys)

SNV
Germline

Chr12:88130414

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 5
Meckel syndrome, type 4
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Leber congenital amaurosis
Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Leber congenital amaurosis 10
Intellectual disability
CEP290-related disorder
Retinal dystrophy
Senior-Loken syndrome 6
Leber congenital amaurosis 10
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Joubert syndrome 5

Criteria Provided
Conflicting Classifications

CA6712745

rs_202159966

9 SubmittersRCV000428640 RCV001109866 RCV001109867 RCV001109868 RCV001110658 RCV001275045 RCV000809280 RCV001109869 RCV001252443 RCV004530521 RCV004816652 RCV005010318

NM_025114.4(CEP290):c.6629G>A (p.Arg2210His)

SNV
Germline

Chr12:88059914

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
Senior-Loken syndrome 6
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Joubert syndrome 5
Leber congenital amaurosis 10
Condition: not provided
Leber congenital amaurosis
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA6711461

rs_371833544

6 SubmittersRCV001245037 RCV000765111 RCV000417476 RCV001276484 RCV003889881

NM_025114.4(CEP290):c.6132T>G (p.Pro2044=)

SNV
Germline

Chr12:88068525

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Leber congenital amaurosis
Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA6711569

rs_765002773

5 SubmittersRCV000421065 RCV000726726 RCV001828431 RCV001083326 RCV004533083

NM_025114.4(CEP290):c.1360-4T>G

SNV
Germline

Chr12:88120280

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 14
Joubert syndrome 5
Meckel syndrome, type 4
not specified
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6712563

rs_200328638

4 SubmittersRCV001112007 RCV001112009 RCV001112452 RCV000441785 RCV000474649 RCV001112008 RCV001112451 RCV002510886

NM_020366.4(RPGRIP1):c.930+3A>G

SNV
Germline

Chr14:21310610

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Leber congenital amaurosis 6
Leber congenital amaurosis 6
Cone-rod dystrophy 13
Cone-rod dystrophy 13
RPGRIP1-related disorder

Criteria Provided
Conflicting Classifications

CA7088791

rs_150107283

6 SubmittersRCV000585329 RCV000417812 RCV001113069 RCV001083158 RCV001113068 RCV003932581

NM_025114.4(CEP290):c.1729C>T (p.Leu577=)

SNV
Germline

Chr12:88117128

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 10
Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Joubert syndrome 5

Criteria Provided
Conflicting Classifications

CA6712482

rs_201295052

8 SubmittersRCV000733432 RCV001111899 RCV001084047 RCV001109606 RCV001109607 RCV001109608 RCV001111898

NM_020366.4(RPGRIP1):c.3565C>T (p.Arg1189Ter)

SNV
Germline

Chr14:21345145

Pathogenic

Condition: not provided
Leber congenital amaurosis 6
Cone-rod dystrophy 13
Cone-rod dystrophy 13
Leber congenital amaurosis 6

Criteria Provided
Multiple Submitters
No Conflicts

CA7089550

rs_752175052

6 SubmittersRCV000428349 RCV001261193 RCV001800668 RCV001387165

NM_001080442.3(SLC38A8):c.388+5G>A

SNV
Germline

Chr16:84036697

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis

Criteria Provided
Conflicting Classifications

CA8200347

rs_760391436

3 SubmittersRCV000434287 RCV000515654

NM_201253.3(CRB1):c.4030A>G (p.Ile1344Val)

SNV
Germline

Chr1:197477688

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1312539

rs_111761880

6 SubmittersRCV000480538 RCV001242630 RCV001828510 RCV003449241 RCV003449242 RCV003449243 RCV005540090

NM_000329.3(RPE65):c.1244C>T (p.Ala415Val)

SNV
Germline

Chr1:68431376

Likely pathogenic

Condition: not provided
RPE65-related recessive retinopathy
Retinitis pigmentosa 20
Retinitis pigmentosa 87 with choroidal involvement
Leber congenital amaurosis 2

Reviewed By Expert Panel

CA16617183

rs_1064795255

3 SubmittersRCV000483168 RCV003766693 RCV005398695

NM_025114.4(CEP290):c.4705-1G>T

SNV
Germline

Chr12:88083955

Pathogenic/Likely pathogenic

Condition: not provided
Nephronophthisis
Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome 5
Leber congenital amaurosis
Bardet-Biedl syndrome 14
CEP290-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA6711875

rs_777464278

5 SubmittersRCV000479832 RCV001060437 RCV001335139 RCV003324527 RCV003470556 RCV004527588

NM_018418.5(SPATA7):c.923G>A (p.Cys308Tyr)

SNV
Germline

Chr14:88429358

Conflicting classifications of pathogenicity

Leber congenital amaurosis 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7298651

rs_138190453

2 SubmittersRCV001085427 RCV000481403

NM_018418.5(SPATA7):c.1238A>G (p.His413Arg)

SNV
Germline

Chr14:88437860

Conflicting classifications of pathogenicity

Leber congenital amaurosis 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7298781

rs_149478294

2 SubmittersRCV001085445 RCV000486342

NM_201253.3(CRB1):c.481G>A (p.Ala161Thr)

SNV
Germline

Chr1:197328832

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Retinitis pigmentosa 12

Criteria Provided
Conflicting Classifications

CA16621582

rs_1064797126

3 SubmittersRCV000488223 RCV001072005 RCV001591128

NM_201253.3(CRB1):c.3086T>A (p.Val1029Glu)

SNV
Germline

Chr1:197434949

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis

Criteria Provided
Conflicting Classifications

CA16621584

rs_1064797128

2 SubmittersRCV000488313 RCV001199680

NM_020366.4(RPGRIP1):c.2368-2A>G

SNV
Germline

Chr14:21325829

Pathogenic/Likely pathogenic

Condition: not provided
Leber congenital amaurosis
Cone-rod dystrophy 13
Leber congenital amaurosis 6

Criteria Provided
Multiple Submitters
No Conflicts

CA16621652

rs_1064797182

3 SubmittersRCV000487634 RCV001199768 RCV001800704 RCV001800703

NM_014336.5(AIPL1):c.140C>G (p.Thr47Arg)

SNV
Germline

Chr17:6434055

Conflicting classifications of pathogenicity

Leber congenital amaurosis 4
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA8328611

rs_150656720

5 SubmittersRCV001081379 RCV000488128 RCV001700132

NM_000180.4(GUCY2D):c.2122T>C (p.Trp708Arg)

SNV
Germline

Chr17:8013111

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 1
Cone-rod dystrophy 6

Criteria Provided
Conflicting Classifications

CA16621700

rs_1064797217

2 SubmittersRCV000488275 RCV001360599

NM_000554.6(CRX):c.663C>A (p.Tyr221Ter)

SNV
Germline

Chr19:47839730

Likely pathogenic

Condition: not provided
Leber congenital amaurosis 7
Cone-rod dystrophy 2
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA16621743

rs_1064797247

3 SubmittersRCV000487650 RCV001865500 RCV001073867

NM_000283.4(PDE6B):c.886G>T (p.Glu296Ter)

SNV
Germline

Chr4:654113

Pathogenic/Likely pathogenic

Condition: not provided
Leber congenital amaurosis
Retinitis pigmentosa 40

Criteria Provided
Multiple Submitters
No Conflicts

CA16621814

rs_1064797304

2 SubmittersRCV000488380 RCV001199718 RCV001293398

NM_004744.5(LRAT):c.487C>G (p.His163Asp)

SNV
Germline

Chr4:154744813

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Leber congenital amaurosis 14

Criteria Provided
Conflicting Classifications

CA16621821

rs_1010347467

5 SubmittersRCV000487578 RCV001199703 RCV003155209

NM_201253.3(CRB1):c.2501G>A (p.Gly834Asp)

SNV
Germline

Chr1:197427826

Pathogenic/Likely pathogenic

Condition: not provided
Leber congenital amaurosis
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Multiple Submitters
No Conflicts

CA344037829

rs_1085307972

4 SubmittersRCV000488946 RCV001834593 RCV003449262 RCV003449263 RCV001851320

NM_201253.3(CRB1):c.2842T>C (p.Cys948Arg)

SNV
Germline

Chr1:197429614

Pathogenic

Leber congenital amaurosis
Leber congenital amaurosis 8
Leber congenital amaurosis 1
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
Retinal dystrophy
Retinitis pigmentosa 12
CRB1-related disorder
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Multiple Submitters
No Conflicts

CA344041407

rs_62645747

9 SubmittersRCV000515691 RCV001250609 RCV000986493 RCV001389640 RCV001836643 RCV003987563 RCV003449270 RCV004740266 RCV005010407

NM_000329.3(RPE65):c.1338G>T (p.Arg446Ser)

SNV
Germline

Chr1:68431282

Pathogenic

Leber congenital amaurosis
Retinitis pigmentosa 20
Leber congenital amaurosis 2
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA340742354

rs_1420672586

4 SubmittersRCV000515733 RCV001245608 RCV003766756

NM_000329.3(RPE65):c.1101A>G (p.Arg367=)

SNV
Germline

Chr1:68438214

Pathogenic

Leber congenital amaurosis
RPE65-related recessive retinopathy
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis 2

Reviewed By Expert Panel

CA418279061

rs_1553152989

6 SubmittersRCV000515747 RCV004527377 RCV001865522 RCV002248718

NM_000440.3(PDE6A):c.2027+5G>T

SNV
Germline

Chr5:149884474

Pathogenic

Leber congenital amaurosis

No Assertion Criteria Provided

CA658657557

rs_794727166

1 SubmittersRCV000515673

NM_001134831.2(AHI1):c.1912+5G>T

SNV
Germline

Chr6:135442577

Pathogenic

Leber congenital amaurosis

No Assertion Criteria Provided

CA658657626

rs_1554347012

1 SubmittersRCV000515724

NM_025114.4(CEP290):c.1910-11T>G

SNV
Germline

Chr12:88114573

Pathogenic

Leber congenital amaurosis
Meckel syndrome, type 4
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA658656314

rs_1555220638

3 SubmittersRCV000515679 RCV004800425 RCV003470596

NM_025114.4(CEP290):c.1623+5G>A

SNV
Germline

Chr12:88118638

Pathogenic

Leber congenital amaurosis

No Assertion Criteria Provided

CA385979079

rs_1555222073

1 SubmittersRCV000515712

NM_018418.5(SPATA7):c.19G>A (p.Val7Ile)

SNV
Germline

Chr14:88385837

Pathogenic

Leber congenital amaurosis

No Assertion Criteria Provided

CA501037

rs_371609982

1 SubmittersRCV000515718

NM_018418.5(SPATA7):c.1215G>T (p.Glu405Asp)

SNV
Germline

Chr14:88437597

Pathogenic

Leber congenital amaurosis

No Assertion Criteria Provided

CA7298763

rs_768028061

1 SubmittersRCV000515659

NM_006915.3(RP2):c.102G>A (p.Lys34=)

SNV
Germline

ChrX:46837202

Likely pathogenic

Leber congenital amaurosis
Condition: not provided
Retinitis pigmentosa 3

Criteria Provided
Multiple Submitters
No Conflicts

CA516252066

rs_1556313552

3 SubmittersRCV000515686 RCV001051097 RCV000990803

NM_006915.3(RP2):c.102+3A>C

SNV
Germline

ChrX:46837205

Pathogenic

Leber congenital amaurosis

No Assertion Criteria Provided

CA658658980

rs_1556313557

1 SubmittersRCV000515740

NM_025114.4(CEP290):c.4813-2A>G

SNV
Germline

Chr12:88083232

Pathogenic/Likely pathogenic

Nephronophthisis
Joubert syndrome
Meckel-Gruber syndrome
Retinal dystrophy
Condition: not provided
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Senior-Loken syndrome 6
Joubert syndrome 5
Leber congenital amaurosis 10
Joubert syndrome 5
Bardet-Biedl syndrome 14
Leber congenital amaurosis
CEP290-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA6711850

rs_369523378

12 SubmittersRCV000687629 RCV001075395 RCV000498458 RCV001535842 RCV002248731 RCV003464071 RCV001271569 RCV002222534

NM_201253.3(CRB1):c.1183G>T (p.Glu395Ter)

SNV
Germline

Chr1:197421011

Pathogenic/Likely pathogenic

Leber congenital amaurosis
Retinal dystrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA35893184

rs_369775002

4 SubmittersRCV000505025 RCV001074835 RCV001390794 RCV003476197

NM_201253.3(CRB1):c.2129A>T (p.Glu710Val)

SNV
Germline

Chr1:197427454

Pathogenic/Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinal dystrophy
Condition: not provided
Leber congenital amaurosis
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA1312059

rs_145282040

9 SubmittersRCV001053730 RCV000504865 RCV001783005 RCV001275649 RCV005010445 RCV003449433 RCV003449434 RCV003449435

NM_201253.3(CRB1):c.2639A>G (p.Asn880Ser)

SNV
Germline

Chr1:197427964

Conflicting classifications of pathogenicity

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis

Criteria Provided
Conflicting Classifications

CA35901203

rs_910489135

6 SubmittersRCV001067848 RCV000504944 RCV001376401 RCV003476198 RCV005010446 RCV001834627

NM_201253.3(CRB1):c.2842+5G>A

SNV
Germline

Chr1:197429619

Pathogenic/Likely pathogenic

Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Leber congenital amaurosis
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Multiple Submitters
No Conflicts

CA1312221

rs_773914330

9 SubmittersRCV000504958 RCV001310547 RCV001857211 RCV005010447 RCV005418175 RCV001250645 RCV003446102

NM_201253.3(CRB1):c.3676G>T (p.Gly1226Ter)

SNV
Germline

Chr1:197435539

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa
Leber congenital amaurosis
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA1312374

rs_757740068

7 SubmittersRCV001064730 RCV000504976 RCV001275659 RCV003449440 RCV003228798 RCV003449439

NM_000329.3(RPE65):c.74C>T (p.Pro25Leu)

SNV
Germline

Chr1:68448644

Pathogenic

Retinal dystrophy
Leber congenital amaurosis
Leber congenital amaurosis 2
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Retinitis pigmentosa
Retinitis pigmentosa 87 with choroidal involvement
Leber congenital amaurosis 2
Retinitis pigmentosa 20
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA902628

rs_199683808

10 SubmittersRCV000504723 RCV001834621 RCV001250673 RCV001377674 RCV001724032 RCV002496962 RCV004527379

NM_022787.4(NMNAT1):c.155G>T (p.Gly52Val)

SNV
Germline

Chr1:9975631

Conflicting classifications of pathogenicity

Leber congenital amaurosis
Leber congenital amaurosis 9
Cone-rod dystrophy

Criteria Provided
Conflicting Classifications

CA579169

rs_768528387

3 SubmittersRCV000504653 RCV001314168 RCV005625649

NM_022787.4(NMNAT1):c.485C>A (p.Ser162Tyr)

SNV
Unknown

Chr1:9982346

Likely pathogenic

Leber congenital amaurosis

No Assertion Criteria Provided

CA338686519

rs_1553128102

1 SubmittersRCV000504848

NM_022787.4(NMNAT1):c.736G>C (p.Glu246Gln)

SNV
Unknown

Chr1:9982597

Likely pathogenic

Leber congenital amaurosis

No Assertion Criteria Provided

CA579319

rs_747653875

1 SubmittersRCV000504672

NM_001023570.4(IQCB1):c.260T>G (p.Leu87Ter)

SNV
Unknown

Chr3:121828473

Likely pathogenic

Leber congenital amaurosis

No Assertion Criteria Provided

CA354112707

rs_1553722736

1 SubmittersRCV000504928

NM_001122769.3(LCA5):c.1676C>A (p.Ser559Ter)

SNV
Unknown

Chr6:79487422

Pathogenic

Leber congenital amaurosis

No Assertion Criteria Provided

CA364639222

rs_766143193

1 SubmittersRCV000505038

NM_001122769.3(LCA5):c.838C>T (p.Arg280Ter)

SNV
Germline

Chr6:79493633

Pathogenic

Retinal dystrophy
Leber congenital amaurosis
Condition: not provided
Inborn genetic diseases
Leber congenital amaurosis 5

Criteria Provided
Multiple Submitters
No Conflicts

CA141864468

rs_866395428

7 SubmittersRCV000504935 RCV000505126 RCV001382408 RCV000624398 RCV001834629

NM_020366.4(RPGRIP1):c.2398G>A (p.Glu800Lys)

SNV
Germline

Chr14:21325861

Pathogenic

Abnormality of the eye
Leber congenital amaurosis 6
Cone-rod dystrophy 13
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA7089253

rs_565837539

4 SubmittersRCV000504829 RCV001215982 RCV002230986

NM_020366.4(RPGRIP1):c.2941C>T (p.Arg981Ter)

SNV
Germline

Chr14:21328469

Pathogenic

Leber congenital amaurosis
Leber congenital amaurosis 6
Leber congenital amaurosis 6
Cone-rod dystrophy 13
Leber congenital amaurosis 1
Cone-rod dystrophy 13

Criteria Provided
Multiple Submitters
No Conflicts

CA7089380

rs_780667159

7 SubmittersRCV000504726 RCV001261192 RCV001382205 RCV000989177 RCV001800715

NM_020366.4(RPGRIP1):c.3120G>A (p.Trp1040Ter)

SNV
Unknown

Chr14:21330269

Likely pathogenic

Leber congenital amaurosis

No Assertion Criteria Provided

CA388872113

rs_1555303320

1 SubmittersRCV000504916

NM_000554.6(CRX):c.119G>A (p.Arg40Gln)

SNV
Germline

Chr19:47836261

Pathogenic

Retinal dystrophy
Leber congenital amaurosis 7
Cone-rod dystrophy 2

Criteria Provided
Single Submitter

CA9544402

rs_771450991

2 SubmittersRCV000504788 RCV001857203

NM_022787.4(NMNAT1):c.271G>A (p.Glu91Lys)

SNV
Germline

Chr1:9975747

Pathogenic/Likely pathogenic

Leber congenital amaurosis 9
Cone dystrophy

No Assertion Criteria Provided

CA338685222

rs_1271498710

2 SubmittersRCV001372429 RCV000664187

NM_025114.4(CEP290):c.1066-1G>A

SNV
Germline

Chr12:88125370

Pathogenic

not specified
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Meckel syndrome, type 4
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Joubert syndrome 5
Bardet-Biedl syndrome 14
CEP290-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA241154824

rs_965522059

6 SubmittersRCV000506801 RCV000636990 RCV000763318 RCV003464093 RCV004732914

NM_201253.3(CRB1):c.1914G>T (p.Ser638=)

SNV
Germline

Chr1:197421742

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis

Criteria Provided
Conflicting Classifications

CA422808630

rs_780682072

3 SubmittersRCV000512803 RCV001482580 RCV005614420

NM_000883.4(IMPDH1):c.377T>C (p.Phe126Ser)

SNV
Germline

Chr7:128403731

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Leber congenital amaurosis 11
Retinitis pigmentosa 10
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4471191

rs_367549284

5 SubmittersRCV000513057 RCV001002241 RCV005398729 RCV003352900

NM_003322.6(TULP1):c.1024C>T (p.Arg342Ter)

SNV
Germline

Chr6:35505829

Pathogenic

Condition: not provided
Leber congenital amaurosis 15

Criteria Provided
Multiple Submitters
No Conflicts

CA363779845

rs_767030473

3 SubmittersRCV000519299 RCV001591182

NM_025114.4(CEP290):c.1915G>T (p.Glu639Ter)

SNV
Germline

Chr12:88114557

Pathogenic/Likely pathogenic

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Bardet-Biedl syndrome 14
Joubert syndrome 5
Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6
Meckel syndrome, type 4
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA385977034

rs_1555220625

6 SubmittersRCV000519595 RCV001058827 RCV002497033 RCV003155226 RCV003470660

NM_000554.6(CRX):c.269G>A (p.Arg90Gln)

SNV
Germline

Chr19:47839336

Conflicting classifications of pathogenicity

Condition: not provided
Cone-rod dystrophy 2
Leber congenital amaurosis 7

Criteria Provided
Conflicting Classifications

CA406630283

rs_1209634994

2 SubmittersRCV000520899 RCV001853674

NM_000329.3(RPE65):c.419G>A (p.Gly140Glu)

SNV
Germline

Chr1:68444607

Likely pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis
Leber congenital amaurosis 2
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA340747862

rs_1191496583

4 SubmittersRCV000542372 RCV000754974 RCV003470756 RCV003767007

NM_000329.3(RPE65):c.215T>C (p.Phe72Ser)

SNV
Germline

Chr1:68446740

Conflicting classifications of pathogenicity

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Conflicting Classifications

CA340748948

rs_1553153597

2 SubmittersRCV000553292 RCV002287424

NM_022787.4(NMNAT1):c.827A>C (p.Glu276Ala)

SNV
Germline

Chr1:9982688

Conflicting classifications of pathogenicity

Leber congenital amaurosis 9
Leber congenital amaurosis 9
Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis

Criteria Provided
Conflicting Classifications

CA579338

rs_147220828

2 SubmittersRCV000530835 RCV005398801

NM_022787.4(NMNAT1):c.716T>C (p.Leu239Ser)

SNV
Germline

Chr1:9982577

Pathogenic/Likely pathogenic

Leber congenital amaurosis 9
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA579318

rs_778606847

3 SubmittersRCV000538650 RCV004817767

NM_025114.4(CEP290):c.6358-1G>A

SNV
Germline

Chr12:88060995

Likely pathogenic

Leber congenital amaurosis
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Bardet-Biedl syndrome 14
Joubert syndrome 5
Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA6711506

rs_766670248

4 SubmittersRCV001276485 RCV000555880 RCV002491001 RCV003470742

NM_025114.4(CEP290):c.384T>C (p.Asp128=)

SNV
Germline

Chr12:88136700

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Joubert syndrome 5
Leber congenital amaurosis 10
Senior-Loken syndrome 6
not specified
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA6712816

rs_76267039

4 SubmittersRCV000550067 RCV001110659 RCV001110660 RCV001112627 RCV001112629 RCV001112628 RCV001821528 RCV003889921

NM_025114.4(CEP290):c.6392A>G (p.Glu2131Gly)

SNV
Germline

Chr12:88060960

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Bardet-Biedl syndrome 14
Joubert syndrome 5
Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6
Leber congenital amaurosis
Condition: not provided
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA6711500

rs_184323010

5 SubmittersRCV000529924 RCV000765112 RCV001272013 RCV002469187 RCV004732937

NM_025114.4(CEP290):c.1199C>T (p.Thr400Ile)

SNV
Germline

Chr12:88121157

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Condition: not provided
Bardet-Biedl syndrome 14
Joubert syndrome 5
Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA6712602

rs_773578133

4 SubmittersRCV000526103 RCV000839270 RCV005010500 RCV004537946

NM_025114.4(CEP290):c.180+1G>A

SNV
Germline

Chr12:88140955

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa
Leber congenital amaurosis
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Meckel syndrome, type 4
Leber congenital amaurosis 10
Joubert syndrome 5
Meckel syndrome, type 4
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA6712897

rs_758593134

7 SubmittersRCV001091342 RCV001199655 RCV000787558 RCV000542843 RCV002289749 RCV002497107

NM_000180.4(GUCY2D):c.2598G>C (p.Lys866Asn)

SNV
Germline

Chr17:8014880

Pathogenic

Cone-rod dystrophy 6
Leber congenital amaurosis 1
Leber congenital amaurosis 1
Cone-rod dystrophy 6

Criteria Provided
Multiple Submitters
No Conflicts

CA8366175

rs_201587670

3 SubmittersRCV000556412 RCV001250816 RCV000989743

NM_206933.4(USH2A):c.4957C>T (p.Arg1653Ter)

SNV
Germline

Chr1:216086749

Pathogenic

Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa
Leber congenital amaurosis
Retinal dystrophy
Retinitis pigmentosa 39

Criteria Provided
Multiple Submitters
No Conflicts

CA1395583

rs_754768875

11 SubmittersRCV000578898 RCV000670513 RCV000787731 RCV000787898 RCV003889925 RCV003465286

NM_020366.4(RPGRIP1):c.1792C>T (p.Arg598Ter)

SNV
Germline

Chr14:21324647

Pathogenic/Likely pathogenic

Condition: not provided
Cone-rod dystrophy 13
Leber congenital amaurosis 6
Leber congenital amaurosis 6
Leber congenital amaurosis
RPGRIP1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA7089094

rs_775935766

7 SubmittersRCV000578972 RCV001238568 RCV001800794 RCV003226328 RCV003420017

NM_152443.3(RDH12):c.250C>T (p.Arg84Ter)

SNV
Germline

Chr14:67725161

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
Leber congenital amaurosis 13

Criteria Provided
Multiple Submitters
No Conflicts

CA390148606

rs_1349849938

6 SubmittersRCV000578516 RCV004817774 RCV001058196

NM_018418.5(SPATA7):c.1171C>T (p.Arg391Ter)

SNV
Germline

Chr14:88437553

Pathogenic

Condition: not provided
Leber congenital amaurosis 3
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA264544769

rs_374268850

4 SubmittersRCV000578631 RCV000678631 RCV002466542

NM_006088.6(TUBB4B):c.1172G>A (p.Arg391His)

SNV
Germline

Chr9:137243390

Pathogenic/Likely pathogenic

Leber congenital amaurosis with early-onset deafness
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA375756093

rs_1554786803

3 SubmittersRCV000584731 RCV001683598

NM_006088.6(TUBB4B):c.1171C>T (p.Arg391Cys)

SNV
Germline

Chr9:137243389

Pathogenic/Likely pathogenic

Leber congenital amaurosis with early-onset deafness
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA375756091

rs_1554786802

6 SubmittersRCV000584738 RCV001755979

NM_025114.4(CEP290):c.5012+2T>C

SNV
Germline

Chr12:88083029

Likely pathogenic

Condition: not provided
Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome
Leber congenital amaurosis
Joubert syndrome 5
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4
Meckel syndrome, type 4
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA385992634

rs_1369768287

6 SubmittersRCV000595159 RCV001056739 RCV001276491 RCV002491180 RCV003485612 RCV003465334

NM_000180.4(GUCY2D):c.2563C>T (p.Gln855Ter)

SNV
Germline

Chr17:8014751

Pathogenic

Condition: not provided
Cone-rod dystrophy 6
Leber congenital amaurosis 1
Cone-rod dystrophy 6

Criteria Provided
Multiple Submitters
No Conflicts

CA397953824

rs_1555635778

3 SubmittersRCV000593037 RCV000700865 RCV000989742

NM_018418.5(SPATA7):c.1281G>A (p.Ser427=)

SNV
Germline

Chr14:88437903

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 3

Criteria Provided
Conflicting Classifications

CA264545204

rs_867885753

2 SubmittersRCV000592933 RCV001416688

NM_025114.4(CEP290):c.6798G>A (p.Trp2266Ter)

SNV
Germline

Chr12:88058868

Pathogenic

Condition: not provided
Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome
CEP290-related disorder
Leber congenital amaurosis 10
Kidney disorder
Joubert syndrome 5
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA6711432

rs_760540562

7 SubmittersRCV000596012 RCV000636987 RCV002282253 RCV002250666 RCV002294351 RCV002506412 RCV003459464

NM_020366.4(RPGRIP1):c.74C>T (p.Pro25Leu)

SNV
Germline

Chr14:21288050

Conflicting classifications of pathogenicity

Condition: not provided
Cone-rod dystrophy 13
Leber congenital amaurosis 6
Leber congenital amaurosis 6
Cone-rod dystrophy 13

Criteria Provided
Conflicting Classifications

CA7088535

rs_199590641

3 SubmittersRCV000598475 RCV001087237 RCV001800819 RCV001800820

NM_020366.4(RPGRIP1):c.1236G>A (p.Gln412=)

SNV
Germline

Chr14:21317780

Conflicting classifications of pathogenicity

Condition: not provided
Cone-rod dystrophy 13
Leber congenital amaurosis 6
Leber congenital amaurosis 6
Cone-rod dystrophy 13

Criteria Provided
Conflicting Classifications

CA7088914

rs_140904308

3 SubmittersRCV000596482 RCV001088615 RCV001800821 RCV001800822

NM_020366.4(RPGRIP1):c.1468-2A>G

SNV
Germline

Chr14:21321257

Pathogenic/Likely pathogenic

Condition: not provided
Cone-rod dystrophy 13
Leber congenital amaurosis 6
Leber congenital amaurosis
Leber congenital amaurosis 6

Criteria Provided
Multiple Submitters
No Conflicts

CA7088985

rs_751342895

4 SubmittersRCV000592649 RCV001854022 RCV002282254 RCV005235444

NM_000180.4(GUCY2D):c.1851G>A (p.Val617=)

SNV
Germline

Chr17:8012245

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 1
Cone-rod dystrophy 6
GUCY2D-related disorder

Criteria Provided
Conflicting Classifications

CA8365916

rs_754581545

3 SubmittersRCV000598011 RCV001463356 RCV003962670

NM_025114.4(CEP290):c.3955T>C (p.Leu1319=)

SNV
Germline

Chr12:88089106

Conflicting classifications of pathogenicity

Condition: not provided
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Leber congenital amaurosis

Criteria Provided
Conflicting Classifications

CA6712052

rs_182851622

5 SubmittersRCV000591618 RCV001079405 RCV001273075

NM_000180.4(GUCY2D):c.2491C>T (p.Leu831=)

SNV
Germline

Chr17:8014679

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 1
Cone-rod dystrophy 6

Criteria Provided
Conflicting Classifications

CA8366141

rs_771641368

2 SubmittersRCV000592902 RCV001399833

NM_020366.4(RPGRIP1):c.2554C>T (p.Arg852Ter)

SNV
Germline

Chr14:21326017

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
Cone-rod dystrophy 13
Cone-rod dystrophy 13
Leber congenital amaurosis 6
Leber congenital amaurosis 6

Criteria Provided
Multiple Submitters
No Conflicts

CA388869332

rs_1429786931

10 SubmittersRCV000597545 RCV001074918 RCV001800828 RCV001389835 RCV001261185

NM_000180.4(GUCY2D):c.2034C>T (p.Phe678=)

SNV
Germline

Chr17:8012527

Conflicting classifications of pathogenicity

Condition: not provided
Cone-rod dystrophy 6
Leber congenital amaurosis 1

Criteria Provided
Conflicting Classifications

CA8365971

rs_776298636

2 SubmittersRCV000596496 RCV001087201

NM_020366.4(RPGRIP1):c.2376G>A (p.Ser792=)

SNV
Germline

Chr14:21325839

Conflicting classifications of pathogenicity

not specified
Cone-rod dystrophy 13
Leber congenital amaurosis 6
Cone-rod dystrophy 13
Leber congenital amaurosis 6

Criteria Provided
Conflicting Classifications

CA7089245

rs_185667326

4 SubmittersRCV000594774 RCV001110507 RCV000950561 RCV001114547

NM_201253.3(CRB1):c.1192G>A (p.Val398Ile)

SNV
Germline

Chr1:197421020

Conflicting classifications of pathogenicity

not specified
Leber congenital amaurosis 8
Retinitis pigmentosa
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Conflicting Classifications

CA1311884

rs_144011428

3 SubmittersRCV000608690 RCV001101002 RCV001101000 RCV001101001 RCV002063186

NM_201253.3(CRB1):c.3172G>T (p.Glu1058Ter)

SNV
Germline

Chr1:197435035

Pathogenic

Inborn genetic diseases
Stargardt disease
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Multiple Submitters
No Conflicts

CA344046346

rs_564754426

5 SubmittersRCV000623037 RCV000678549 RCV001040018 RCV003451477 RCV003451476

NM_000180.4(GUCY2D):c.849C>G (p.Tyr283Ter)

SNV
Germline

Chr17:8003979

Pathogenic/Likely pathogenic

Inborn genetic diseases
Retinal dystrophy
Cone-rod dystrophy 6
Leber congenital amaurosis 1
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA8365581

rs_143745703

4 SubmittersRCV000624057 RCV001075746 RCV003767829 RCV004800497

NM_000180.4(GUCY2D):c.1566+1G>A

SNV
Germline

Chr17:8007529

Pathogenic/Likely pathogenic

Inborn genetic diseases
Leber congenital amaurosis 1
Cone-rod dystrophy 6
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA397949463

rs_1348467293

3 SubmittersRCV000622935 RCV002531901 RCV003156266

NM_201253.3(CRB1):c.2389T>C (p.Ser797Pro)

SNV
Germline

Chr1:197427714

Conflicting classifications of pathogenicity

Leber congenital amaurosis 8
not specified

Criteria Provided
Conflicting Classifications

CA344037110

rs_1355198242

2 SubmittersRCV000625947 RCV004702206

NM_000329.3(RPE65):c.556G>A (p.Asp186Asn)

SNV
Germline

Chr1:68440940

Likely pathogenic

Leber congenital amaurosis 2

Criteria Provided
Single Submitter

CA340747108

rs_1553153243

1 SubmittersRCV000626100

NM_025114.4(CEP290):c.1429C>T (p.Arg477Ter)

SNV
Germline

Chr12:88120207

Pathogenic/Likely pathogenic

Condition: not provided
CEP290-related disorder
Senior-Loken syndrome 6
Leber congenital amaurosis 10
Joubert syndrome 5
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA385980064

rs_1170451277

5 SubmittersRCV000627200 RCV000779118 RCV000763316 RCV000814304 RCV003465363

NM_025114.4(CEP290):c.1523-1G>T

SNV
Germline

Chr12:88118744

Likely pathogenic

Nephronophthisis
Joubert syndrome
Meckel-Gruber syndrome
Leber congenital amaurosis

Criteria Provided
Single Submitter

CA385979532

rs_1192112844

2 SubmittersRCV000636997 RCV001829789

NM_025114.4(CEP290):c.1078C>T (p.Arg360Ter)

SNV
Germline

Chr12:88125357

Pathogenic

Nephronophthisis
Joubert syndrome
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6
Joubert syndrome 5
Leber congenital amaurosis
Condition: not provided
CEP290-related disorder
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA6712624

rs_776645403

8 SubmittersRCV000636983 RCV000763317 RCV001274130 RCV001356853 RCV004732982 RCV003459522

NM_020366.4(RPGRIP1):c.2878G>C (p.Ala960Pro)

SNV
Germline

Chr14:21327790

Conflicting classifications of pathogenicity

Cone-rod dystrophy 13
Leber congenital amaurosis 6
Cone-rod dystrophy 13
Leber congenital amaurosis 6

Criteria Provided
Conflicting Classifications

CA7089360

rs_35810926

3 SubmittersRCV000641903 RCV001114650 RCV001113279

NM_152443.3(RDH12):c.716G>T (p.Arg239Leu)

SNV
Germline

Chr14:67729248

Pathogenic/Likely pathogenic

Leber congenital amaurosis 13
Retinitis pigmentosa
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA390152963

rs_1239043055

5 SubmittersRCV000645726 RCV001003156 RCV001835041

NM_018418.5(SPATA7):c.1255T>C (p.Leu419=)

SNV
Germline

Chr14:88437877

Conflicting classifications of pathogenicity

Leber congenital amaurosis 3
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA7298786

rs_112976233

2 SubmittersRCV000642678 RCV001117498

NM_201253.3(CRB1):c.29T>C (p.Leu10Pro)

SNV
Germline

Chr1:197268441

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 8
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA1311549

rs_201609001

4 SubmittersRCV000658537 RCV001526747 RCV001477776 RCV004817855

NM_000329.3(RPE65):c.982C>T (p.Leu328Phe)

SNV
Germline

Chr1:68438958

Likely pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Condition: not provided
RPE65-related recessive retinopathy
Retinitis pigmentosa 87 with choroidal involvement
Leber congenital amaurosis 2
Retinitis pigmentosa 20

Reviewed By Expert Panel

CA340744630

rs_1169420841

5 SubmittersRCV000672144 RCV004788098 RCV004801923 RCV005034264

NM_000329.3(RPE65):c.755T>C (p.Phe252Ser)

SNV
Germline

Chr1:68439294

Likely pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2
Condition: not provided
RPE65-related recessive retinopathy
not specified

Reviewed By Expert Panel

CA340745829

rs_1553153135

5 SubmittersRCV000672055 RCV001549804 RCV004527392 RCV004768542

NM_000329.3(RPE65):c.718G>T (p.Val240Phe)

SNV
Germline

Chr1:68439568

Likely pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Retinitis pigmentosa 87 with choroidal involvement
Retinitis pigmentosa 20

Criteria Provided
Multiple Submitters
No Conflicts

CA902422

rs_192907397

5 SubmittersRCV001244442 RCV000754973 RCV005034282 RCV003232070

NM_000329.3(RPE65):c.242G>T (p.Arg81Ile)

SNV
Germline

Chr1:68446713

Pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis
RPE65-related recessive retinopathy
Retinitis pigmentosa
Condition: not provided

Reviewed By Expert Panel

CA340748885

rs_1429137932

6 SubmittersRCV001098872 RCV001053470 RCV000754977 RCV004527393 RCV001098873 RCV001756143

NM_152443.3(RDH12):c.524C>T (p.Ser175Leu)

SNV
Germline

Chr14:67727056

Pathogenic/Likely pathogenic

Leber congenital amaurosis
Condition: not provided
Leber congenital amaurosis 13
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA7238739

rs_116733939

13 SubmittersRCV000754982 RCV001584547 RCV000993755 RCV004817913

NM_000329.3(RPE65):c.1399C>T (p.Pro467Ser)

SNV
Germline

Chr1:68431116

Pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA340741969

rs_1395763356

4 SubmittersRCV000678615 RCV001868293 RCV004702311 RCV004801924

NM_025114.4(CEP290):c.4960C>T (p.Gln1654Ter)

SNV
Germline

Chr12:88083083

Pathogenic

Leber congenital amaurosis 10
Condition: not provided

No Assertion Criteria Provided

CA385992764

rs_1226324483

2 SubmittersRCV000678536 RCV001700446

NM_020366.4(RPGRIP1):c.799C>T (p.Arg267Ter)

SNV
Germline

Chr14:21303542

Pathogenic

Leber congenital amaurosis 6
Cone-rod dystrophy 13
Leber congenital amaurosis 6

Criteria Provided
Single Submitter

CA7088743

rs_554396590

2 SubmittersRCV000678628 RCV002532181

NM_000180.4(GUCY2D):c.2303G>A (p.Arg768Gln)

SNV
Germline

Chr17:8013919

Pathogenic

Leber congenital amaurosis 1
Leber congenital amaurosis
Condition: not provided
Leber congenital amaurosis 1
Cone-rod dystrophy 6
Leber congenital amaurosis 1
Choroidal dystrophy, central areolar, 1
Night blindness, congenital stationary, type1i
Cone-rod dystrophy 6
POLR-related leukodystrophy
GUCY2D-related recessive retinopathy

Reviewed By Expert Panel

CA8366083

rs_750889782

8 SubmittersRCV000678575 RCV001003041 RCV001784301 RCV003768027 RCV005019167 RCV004760694 RCV005053952

NM_000554.6(CRX):c.205C>T (p.Arg69Cys)

SNV
Germline

Chr19:47836347

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Leber congenital amaurosis 7
Cone-rod dystrophy 2
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA9544418

rs_771551785

4 SubmittersRCV000678552 RCV002531393 RCV001074637

NM_201253.3(CRB1):c.2548G>A (p.Gly850Ser)

SNV
Germline

Chr1:197427873

Pathogenic

Retinitis pigmentosa 12
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA1312139

rs_776591659

3 SubmittersRCV001542641 RCV000684930 RCV003472183

NM_020366.4(RPGRIP1):c.2017C>T (p.Gln673Ter)

SNV
Germline

Chr14:21324872

Pathogenic

Cone-rod dystrophy 13
Leber congenital amaurosis 6

Criteria Provided
Single Submitter

CA388867595

rs_1566341956

1 SubmittersRCV000701424

NM_025114.4(CEP290):c.508A>T (p.Lys170Ter)

SNV
Germline

Chr12:88130553

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Retinal dystrophy
Leber congenital amaurosis
Inborn genetic diseases
Bardet-Biedl syndrome 14
Joubert syndrome 5
Meckel syndrome, type 4
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA6712767

rs_772170760

7 SubmittersRCV000701688 RCV001073334 RCV001825379 RCV002536346 RCV003465619 RCV002499260 RCV005620388

NM_020366.4(RPGRIP1):c.931-2A>G

SNV
Germline

Chr14:21311822

Likely pathogenic

Leber congenital amaurosis 6
Cone-rod dystrophy 13

Criteria Provided
Multiple Submitters
No Conflicts

CA257501222

rs_374188857

2 SubmittersRCV000701308

NM_020366.4(RPGRIP1):c.2302C>T (p.Arg768Ter)

SNV
Germline

Chr14:21325318

Pathogenic

Cone-rod dystrophy 13
Leber congenital amaurosis 6
Condition: not provided
Leber congenital amaurosis 6
Cone-rod dystrophy 13
RPGRIP1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA7089212

rs_75459701

4 SubmittersRCV000686083 RCV000760501 RCV001800848 RCV001800849 RCV003403585

NM_014336.5(AIPL1):c.265T>C (p.Cys89Arg)

SNV
Germline

Chr17:6433930

Pathogenic/Likely pathogenic

Leber congenital amaurosis 4

Criteria Provided
Multiple Submitters
No Conflicts

CA397397066

rs_1264794214

2 SubmittersRCV000696451

NM_014336.5(AIPL1):c.238C>T (p.Arg80Trp)

SNV
Germline

Chr17:6433957

Pathogenic/Likely pathogenic

Leber congenital amaurosis 4
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA8328589

rs_748210823

3 SubmittersRCV000685799 RCV001199638

NM_000180.4(GUCY2D):c.2618C>G (p.Pro873Arg)

SNV
Germline

Chr17:8014900

Conflicting classifications of pathogenicity

Leber congenital amaurosis 1
Cone-rod dystrophy 6
Retinal dystrophy
Night blindness, congenital stationary, type1i
Cone-rod dystrophy

Criteria Provided
Conflicting Classifications

CA397953944

rs_1567961680

4 SubmittersRCV000697191 RCV001074400 RCV002250683 RCV002267739

NM_000180.4(GUCY2D):c.3224+1G>C

SNV
Germline

Chr17:8016291

Pathogenic

Cone-rod dystrophy 6
Leber congenital amaurosis 1
Choroidal dystrophy, central areolar, 1
Cone-rod dystrophy 6
Night blindness, congenital stationary, type1i
Leber congenital amaurosis 1
Retinal dystrophy
Leber congenital amaurosis 1
GUCY2D-related recessive retinopathy

Reviewed By Expert Panel

CA8366346

rs_757823463

5 SubmittersRCV000704819 RCV005021099 RCV004817943 RCV001729691 RCV005053953

NM_025114.4(CEP290):c.2479C>G (p.Leu827Val)

SNV
Germline

Chr12:88109070

Conflicting classifications of pathogenicity

Senior-Loken syndrome 6
Leber congenital amaurosis
Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Leber congenital amaurosis 10
Joubert syndrome 5
Inborn genetic diseases
Meckel syndrome, type 4
Joubert syndrome 5
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Leber congenital amaurosis 10
not specified
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Condition: not provided
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA6712327

rs_201569048

8 SubmittersRCV001115045 RCV001829910 RCV000689950 RCV001115041 RCV001115043 RCV004026344 RCV002477547 RCV005407885 RCV001115042 RCV001115044 RCV001756171 RCV004527741

NM_020366.4(RPGRIP1):c.2440C>T (p.Arg814Ter)

SNV
Germline

Chr14:21325903

Pathogenic

Leber congenital amaurosis
Leber congenital amaurosis 6
Leber congenital amaurosis 6
Cone-rod dystrophy 13
Cone-rod dystrophy 13
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA7089262

rs_759940113

7 SubmittersRCV000710047 RCV000754600 RCV000762921 RCV001800862 RCV001724145

NM_025114.4(CEP290):c.2251C>T (p.Arg751Ter)

SNV
Germline

Chr12:88111318

Pathogenic

Joubert syndrome 5
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Joubert syndrome 5
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Retinal dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA6712362

rs_753884599

6 SubmittersRCV000710064 RCV001868322 RCV003465647 RCV002493254 RCV004817947 RCV003141716

NM_201253.3(CRB1):c.70+1G>A

SNV
Germline

Chr1:197268483

Pathogenic

Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344082564

rs_1237424465

1 SubmittersRCV000754593

NM_201253.3(CRB1):c.2072G>A (p.Trp691Ter)

SNV
Germline

Chr1:197421900

Pathogenic

Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344033957

rs_1558127317

1 SubmittersRCV000754594

NM_201253.3(CRB1):c.2798G>A (p.Cys933Tyr)

SNV
Germline

Chr1:197429570

Conflicting classifications of pathogenicity

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Conflicting Classifications

CA344041226

rs_1558133731

2 SubmittersRCV000754590 RCV002532969

NM_000329.3(RPE65):c.825C>G (p.Tyr275Ter)

SNV
Germline

Chr1:68439224

Pathogenic

Congenital isolated adrenocorticotropic hormone deficiency
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Retinitis pigmentosa
Retinal dystrophy
Leber congenital amaurosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA340745589

rs_988133284

5 SubmittersRCV000754599 RCV001382566 RCV001731903 RCV004817950 RCV004569407

NM_020366.4(RPGRIP1):c.3617+1G>A

SNV
Germline

Chr14:21345198

Pathogenic

Leber congenital amaurosis 6
Cone-rod dystrophy 13

Criteria Provided
Single Submitter

CA388857614

rs_771116776

1 SubmittersRCV000714540 RCV000714541

NM_000180.4(GUCY2D):c.2766C>G (p.Tyr922Ter)

SNV
Germline

Chr17:8015048

Pathogenic

Leber congenital amaurosis 1
Cone-rod dystrophy 6
Choroidal dystrophy, central areolar, 1
GUCY2D-related recessive retinopathy

Reviewed By Expert Panel

CA287533367

rs_1006935198

2 SubmittersRCV000714546 RCV000714545 RCV000714547 RCV005053954

NM_000180.4(GUCY2D):c.921C>T (p.Ala307=)

SNV
Germline

Chr17:8004051

Conflicting classifications of pathogenicity

Condition: not provided
Cone-rod dystrophy 6
Leber congenital amaurosis 1
not specified

Criteria Provided
Conflicting Classifications

CA8365600

rs_148136213

4 SubmittersRCV000728314 RCV001088183 RCV001700453

NM_000180.4(GUCY2D):c.2384G>A (p.Arg795Gln)

SNV
Germline

Chr17:8014000

Likely pathogenic

Condition: not provided
Leber congenital amaurosis 1
Leber congenital amaurosis 1
Cone-rod dystrophy 6
Retinal dystrophy
Night blindness, congenital stationary, type1i
Leber congenital amaurosis 1
Cone-rod dystrophy 6
Choroidal dystrophy, central areolar, 1
GUCY2D-related recessive retinopathy

Reviewed By Expert Panel

CA8366103

rs_61750171

6 SubmittersRCV000732735 RCV001250839 RCV003768224 RCV004817960 RCV005021138 RCV005053955

NM_000180.4(GUCY2D):c.571C>T (p.Gln191Ter)

SNV
Germline

Chr17:8003618

Pathogenic

Condition: not provided
Leber congenital amaurosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA8365511

rs_768390959

2 SubmittersRCV000732853 RCV001592935

NM_201253.3(CRB1):c.1292C>T (p.Thr431Ile)

SNV
Germline

Chr1:197421120

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1311902

rs_751691851

4 SubmittersRCV000755992 RCV001825490 RCV001049610 RCV004027122

NM_000180.4(GUCY2D):c.1138C>T (p.Arg380Cys)

SNV
Germline

Chr17:8006474

Conflicting classifications of pathogenicity

Condition: not provided
Cone-rod dystrophy 6
Leber congenital amaurosis 1
GUCY2D-related disorder

Criteria Provided
Conflicting Classifications

CA8365663

rs_775105018

3 SubmittersRCV000756220 RCV001078901 RCV004748961

NM_201253.3(CRB1):c.1084C>T (p.Gln362Ter)

SNV
Germline

Chr1:197356926

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Multiple Submitters
No Conflicts

CA1311797

rs_778627080

6 SubmittersRCV000760354 RCV001236260 RCV001250592 RCV003453569

NM_152443.3(RDH12):c.506G>A (p.Arg169Gln)

SNV
Germline

Chr14:67727038

Pathogenic/Likely pathogenic

Leber congenital amaurosis 13
Retinal dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA262809235

rs_971610277

8 SubmittersRCV000761341 RCV001073859 RCV001530599

NM_000329.3(RPE65):c.1451-2A>C

SNV
Unknown

Chr1:68429929

Likely pathogenic

Leber congenital amaurosis 2

Criteria Provided
Single Submitter

CA340741550

rs_1557595199

1 SubmittersRCV000761520

NM_000180.4(GUCY2D):c.337G>A (p.Ala113Thr)

SNV
Germline

Chr17:8003384

Conflicting classifications of pathogenicity

Condition: not provided
Cone-rod dystrophy 6
Leber congenital amaurosis 1

Criteria Provided
Conflicting Classifications

CA397943215

rs_1445892049

2 SubmittersRCV000762200 RCV002061033

NM_201253.3(CRB1):c.3997G>A (p.Glu1333Lys)

SNV
Germline

Chr1:197442284

Conflicting classifications of pathogenicity

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinal dystrophy
Leber congenital amaurosis
not specified
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8

Criteria Provided
Conflicting Classifications

CA1312459

rs_137853136

5 SubmittersRCV001201620 RCV001073728 RCV001825517 RCV003323720 RCV005012299

NM_020366.4(RPGRIP1):c.2662C>T (p.Arg888Ter)

SNV
Germline

Chr14:21326125

Pathogenic/Likely pathogenic

Condition: not provided
Leber congenital amaurosis 6
Cone-rod dystrophy 13
Leber congenital amaurosis 6
Cone-rod dystrophy 13

Criteria Provided
Multiple Submitters
No Conflicts

CA257536142

rs_1030149008

4 SubmittersRCV001091752 RCV001800879 RCV001800880 RCV005004412

NM_014336.5(AIPL1):c.985C>T (p.Gln329Ter)

SNV
Germline

Chr17:6425630

Likely pathogenic

Leber congenital amaurosis

Criteria Provided
Single Submitter

CA397394485

rs_1208703297

1 SubmittersRCV002509532

NM_014336.5(AIPL1):c.94C>T (p.Arg32Ter)

SNV
Germline

Chr17:6435011

Pathogenic

Leber congenital amaurosis 4

Criteria Provided
Single Submitter

CA287329603

rs_139305531

1 SubmittersRCV001390292

NM_025114.4(CEP290):c.5776C>T (p.Arg1926Ter)

SNV
Germline

Chr12:88071860

Pathogenic/Likely pathogenic

Joubert syndrome 5
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Condition: not provided
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Joubert syndrome 5
Meckel syndrome, type 4
Leber congenital amaurosis 10

Criteria Provided
Multiple Submitters
No Conflicts

CA6711646

rs_561598805

6 SubmittersRCV000785894 RCV001207057 RCV001784396 RCV003467316 RCV005004418

NM_201253.3(CRB1):c.2230C>T (p.Arg744Ter)

SNV
Germline

Chr1:197427555

Pathogenic/Likely pathogenic

Early-onset retinal dystrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis
Retinal dystrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12

Criteria Provided
Multiple Submitters
No Conflicts

CA1312079

rs_150412614

12 SubmittersRCV000786007 RCV001869175 RCV001002994 RCV001075564 RCV001250600 RCV005012306 RCV003453620 RCV003453619

NM_201253.3(CRB1):c.2673C>A (p.Cys891Ter)

SNV
Germline

Chr1:197427998

Pathogenic

Early-onset retinal dystrophy
Condition: not provided
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA1312157

rs_759662695

3 SubmittersRCV000786008 RCV003141768 RCV001250630

NM_022787.4(NMNAT1):c.205A>T (p.Met69Leu)

SNV
Germline

Chr1:9975681

Likely pathogenic

Leber congenital amaurosis 9

No Assertion Criteria Provided

CA338684617

rs_372066126

1 SubmittersRCV000787026

NM_201253.3(CRB1):c.1892A>G (p.Tyr631Cys)

SNV
Germline

Chr1:197421720

Conflicting classifications of pathogenicity

Leber congenital amaurosis
Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8

Criteria Provided
Conflicting Classifications

CA344032843

rs_1271816211

7 SubmittersRCV001830677 RCV001766622 RCV000787575 RCV000795927 RCV001250596 RCV005012309

NM_201253.3(CRB1):c.3121A>G (p.Met1041Val)

SNV
Germline

Chr1:197434984

Pathogenic/Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa
Leber congenital amaurosis 8
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA1312280

rs_781705903

4 SubmittersRCV001869189 RCV000787580 RCV003472323 RCV004818003

NM_025114.4(CEP290):c.6871C>T (p.Gln2291Ter)

SNV
Unknown

Chr12:88055665

Pathogenic

Leber congenital amaurosis
Bardet-Biedl syndrome 14

Criteria Provided
Single Submitter

CA385976524

rs_1592726020

2 SubmittersRCV000787561 RCV003467319

NM_152443.3(RDH12):c.226G>T (p.Gly76Trp)

SNV
Germline

Chr14:67725137

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Leber congenital amaurosis 13
Leber congenital amaurosis
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA262808724

rs_368489658

6 SubmittersRCV000787671 RCV001377219 RCV001830679 RCV005256681 RCV004818012

NM_014336.5(AIPL1):c.465G>T (p.Gln155His)

SNV
Germline

Chr17:6428318

Pathogenic/Likely pathogenic

Leber congenital amaurosis
Retinal dystrophy
Leber congenital amaurosis 4

Criteria Provided
Multiple Submitters
No Conflicts

CA8328509

rs_758001091

4 SubmittersRCV000787530 RCV004794454 RCV003485643

NM_000554.6(CRX):c.127C>T (p.Arg43Cys)

SNV
Germline

Chr19:47836269

Pathogenic

Cone-rod dystrophy
Leber congenital amaurosis 7
Cone-rod dystrophy 2
Cone-rod dystrophy 2

Criteria Provided
Multiple Submitters
No Conflicts

CA406629451

rs_1437021651

3 SubmittersRCV000787585 RCV001869190 RCV005429194

NM_025114.4(CEP290):c.5587-1G>C

SNV
Germline

Chr12:88077345

Pathogenic/Likely pathogenic

Leber congenital amaurosis
Retinal dystrophy
Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Senior-Loken syndrome 6
Meckel syndrome, type 4
Leber congenital amaurosis 10
Joubert syndrome 5
Bardet-Biedl syndrome 14
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA241153138

rs_968692633

10 SubmittersRCV000787560 RCV001073923 RCV001090823 RCV001244155 RCV002493435 RCV003467318

NM_000329.3(RPE65):c.329A>G (p.Asp110Gly)

SNV
Germline

Chr1:68444800

Pathogenic

Retinitis pigmentosa
Leber congenital amaurosis 2
Retinitis pigmentosa 20
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA340748193

rs_1571170561

3 SubmittersRCV000787882 RCV002535759 RCV004595858

NM_000883.4(IMPDH1):c.1598A>G (p.Gln533Arg)

SNV
Germline

Chr7:128394552

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Leber congenital amaurosis 11
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA4470775

rs_144498273

7 SubmittersRCV000787840 RCV000878134 RCV001159891 RCV004818020

NM_001346022.3(USP45):c.935G>A (p.Arg312Gln)

SNV
Germline

Chr6:99468617

Pathogenic

Leber congenital amaurosis 19

No Assertion Criteria Provided

CA3935442

rs_202240410

1 SubmittersRCV000790538

NM_000180.4(GUCY2D):c.1561C>T (p.Arg521Ter)

SNV
Germline

Chr17:8007523

Pathogenic

Cone-rod dystrophy 6
Choroidal dystrophy, central areolar, 1
Leber congenital amaurosis 1
GUCY2D-related recessive retinopathy
Retinal dystrophy

Reviewed By Expert Panel

CA287525681

rs_748798324

4 SubmittersRCV000791169 RCV000791170 RCV000791168 RCV005053956 RCV004818030

NM_201253.3(CRB1):c.2425C>T (p.Gln809Ter)

SNV
Germline

Chr1:197427750

Pathogenic/Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA344037279

rs_1571540037

2 SubmittersRCV000801518 RCV005012331

NM_201253.3(CRB1):c.3037C>T (p.Gln1013Ter)

SNV
Germline

Chr1:197434900

Pathogenic/Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA1312264

rs_143511261

4 SubmittersRCV000817389 RCV001250612 RCV005012366

NM_201253.3(CRB1):c.4168C>T (p.Arg1390Ter)

SNV
Germline

Chr1:197477826

Pathogenic/Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA1312569

rs_763324776

4 SubmittersRCV000816727 RCV003446450 RCV003473495 RCV005012364

NM_000329.3(RPE65):c.1205G>A (p.Trp402Ter)

SNV
Germline

Chr1:68431509

Pathogenic

Leber congenital amaurosis 2
Condition: not provided
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Retinal dystrophy
Leber congenital amaurosis
Retinitis pigmentosa 87 with choroidal involvement
Leber congenital amaurosis 2
Retinitis pigmentosa 20
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA902254

rs_774130993

9 SubmittersRCV001089892 RCV001593012 RCV000817537 RCV001075233 RCV001830793 RCV005029504 RCV003461248

NM_001122769.3(LCA5):c.1243G>T (p.Glu415Ter)

SNV
Germline

Chr6:79487855

Pathogenic

Condition: not provided
Leber congenital amaurosis 5

Criteria Provided
Multiple Submitters
No Conflicts

CA364641360

rs_1268307330

4 SubmittersRCV000794733 RCV001592971

NM_001122769.3(LCA5):c.238C>T (p.Arg80Ter)

SNV
Germline

Chr6:79513694

Pathogenic

Condition: not provided
Leber congenital amaurosis
Leber congenital amaurosis 5

Criteria Provided
Multiple Submitters
No Conflicts

CA3901162

rs_781035395

3 SubmittersRCV000819586 RCV001003074 RCV003461262

NM_025114.4(CEP290):c.5777G>C (p.Arg1926Pro)

SNV
Germline

Chr12:88071859

Pathogenic/Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Meckel syndrome, type 4
Joubert syndrome 5
Bardet-Biedl syndrome 14
Retinitis pigmentosa
Joubert syndrome 1
Bardet-Biedl syndrome 14
CEP290-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA241150716

rs_778030031

6 SubmittersRCV000815985 RCV002495153 RCV003324535 RCV000988881 RCV003467476 RCV004733054

NM_025114.4(CEP290):c.4040G>A (p.Trp1347Ter)

SNV
Germline

Chr12:88087934

Pathogenic

Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Meckel syndrome, type 4
Joubert syndrome 5
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA385999345

rs_1339975972

3 SubmittersRCV000820623 RCV003467498 RCV005004450

NM_025114.4(CEP290):c.3802C>T (p.Gln1268Ter)

SNV
Germline

Chr12:88089259

Pathogenic

Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
Leber congenital amaurosis
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA386000671

rs_1468942944

3 SubmittersRCV000823686 RCV001830822 RCV003467520

NM_025114.4(CEP290):c.1645C>T (p.Arg549Ter)

SNV
Germline

Chr12:88118549

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Condition: not provided
Leber congenital amaurosis
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Meckel syndrome, type 4
Joubert syndrome 5
Bardet-Biedl syndrome 14
CEP290-related disorder
Meckel syndrome, type 4

Criteria Provided
Multiple Submitters
No Conflicts

CA6712499

rs_760415289

9 SubmittersRCV000810414 RCV001091339 RCV001274127 RCV003467439 RCV002487758 RCV004733051 RCV004818045

NM_025114.4(CEP290):c.322C>T (p.Arg108Ter)

SNV
Germline

Chr12:88136762

Pathogenic

Nephronophthisis
Joubert syndrome
Meckel-Gruber syndrome
Night blindness
Leber congenital amaurosis
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
CEP290-related disorder
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Joubert syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA385987715

rs_1290241933

8 SubmittersRCV000810939 RCV001030763 RCV001274136 RCV001542774 RCV002290458 RCV004733052 RCV005004443

NM_152443.3(RDH12):c.481C>T (p.Arg161Trp)

SNV
Germline

Chr14:67727013

Pathogenic/Likely pathogenic

Leber congenital amaurosis 13
Leber congenital amaurosis
Cone-rod dystrophy
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA7238728

rs_759408031

7 SubmittersRCV000797267 RCV001277204 RCV002267742 RCV003889988

NM_152443.3(RDH12):c.609C>A (p.Ser203Arg)

SNV
Germline

Chr14:67727141

Conflicting classifications of pathogenicity

Leber congenital amaurosis 13
Leber congenital amaurosis
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA7238759

rs_753959716

6 SubmittersRCV000821787 RCV001830813 RCV004794462

NM_152443.3(RDH12):c.883C>T (p.Arg295Ter)

SNV
Germline

Chr14:67733780

Pathogenic/Likely pathogenic

Leber congenital amaurosis 13
Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA7238876

rs_200387832

10 SubmittersRCV000811812 RCV000993757 RCV001171676 RCV001074674

NM_001122769.3(LCA5):c.190+1G>A

SNV
Germline

Chr6:79518704

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
Leber congenital amaurosis 5

Criteria Provided
Multiple Submitters
No Conflicts

CA364631237

rs_746351112

4 SubmittersRCV000792715 RCV001075221 RCV003467331

NM_025114.4(CEP290):c.3104-5T>G

SNV
Germline

Chr12:88093980

Pathogenic/Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Meckel syndrome, type 4
Joubert syndrome 5
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA693075676

rs_1302558061

2 SubmittersRCV000824247 RCV005004455

NM_004744.5(LRAT):c.40G>T (p.Glu14Ter)

SNV
Germline

Chr4:154744366

Likely pathogenic

Leber congenital amaurosis

Criteria Provided
Single Submitter

CA358629850

rs_768255532

1 SubmittersRCV000826116

NM_025114.4(CEP290):c.3976A>G (p.Lys1326Glu)

SNV
Germline

Chr12:88089085

Conflicting classifications of pathogenicity

Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
CEP290-related disorder
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Meckel syndrome, type 4
Joubert syndrome 5
Bardet-Biedl syndrome 14

Criteria Provided
Conflicting Classifications

CA6712051

rs_377156725

4 SubmittersRCV000827318 RCV002538257 RCV004733059 RCV005004458

NM_025114.4(CEP290):c.4805C>T (p.Thr1602Met)

SNV
Germline

Chr12:88083854

Conflicting classifications of pathogenicity

Meckel syndrome, type 4
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Leber congenital amaurosis
Bardet-Biedl syndrome 14
Retinal dystrophy
Inborn genetic diseases
CEP290-related disorder
Senior-Loken syndrome 6
Meckel syndrome, type 4
Leber congenital amaurosis 10
Joubert syndrome 5
Bardet-Biedl syndrome 14

Criteria Provided
Conflicting Classifications

CA6711864

rs_369451049

8 SubmittersRCV001000093 RCV001244303 RCV001830860 RCV003448352 RCV003889992 RCV004029250 RCV004538167 RCV005012383

NM_000180.4(GUCY2D):c.1633C>T (p.Gln545Ter)

SNV
Germline

Chr17:8007997

Pathogenic

Leber congenital amaurosis 1
Night blindness, congenital stationary, type1i
Leber congenital amaurosis 1
Cone-rod dystrophy 6
GUCY2D-related disorder
GUCY2D-related recessive retinopathy

Reviewed By Expert Panel

CA397949792

rs_1290420698

4 SubmittersRCV000850097 RCV000850098 RCV003768615 RCV004726700 RCV005053957

NM_025114.4(CEP290):c.5164A>G (p.Thr1722Ala)

SNV
Germline

Chr12:88080244

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Leber congenital amaurosis
Meckel syndrome, type 4
Joubert syndrome 5
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Condition: not provided
CEP290-related disorder
Meckel syndrome, type 4
Joubert syndrome 5
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Senior-Loken syndrome 6

Criteria Provided
Conflicting Classifications

CA6711785

rs_375817905

6 SubmittersRCV000862577 RCV001273060 RCV003227872 RCV003313158 RCV004538193 RCV005012385

NM_025114.4(CEP290):c.2090C>G (p.Ala697Gly)

SNV
Germline

Chr12:88111821

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
Senior-Loken syndrome 6
Joubert syndrome 5
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Leber congenital amaurosis
Leber congenital amaurosis 10
Condition: not provided
CEP290-related disorder
CEP290-related ciliopathy

Criteria Provided
Conflicting Classifications

CA6712401

rs_200454865

8 SubmittersRCV000860704 RCV001111804 RCV001111805 RCV001111806 RCV001111807 RCV001275033 RCV001112276 RCV001546810 RCV004538174 RCV005359613

NM_025114.4(CEP290):c.5421A>G (p.Thr1807=)

SNV
Germline

Chr12:88077862

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Joubert syndrome 5
Senior-Loken syndrome 6
Leber congenital amaurosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6711720

rs_370464321

4 SubmittersRCV000868428 RCV001112880 RCV001114241 RCV001112881 RCV001114240 RCV001114242 RCV001273057 RCV005306188

NM_025114.4(CEP290):c.5127G>T (p.Gln1709His)

SNV
Germline

Chr12:88080281

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Joubert syndrome 5
Leber congenital amaurosis 10
Meckel syndrome, type 4
Meckel syndrome, type 4
Joubert syndrome 5
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Senior-Loken syndrome 6
CEP290-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6711789

rs_757738553

5 SubmittersRCV000869753 RCV001110315 RCV001110316 RCV001110313 RCV001110312 RCV001110314 RCV005012389 RCV004538287 RCV004797884

NM_025114.4(CEP290):c.3498T>G (p.Val1166=)

SNV
Germline

Chr12:88090803

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
CEP290-related disorder
Meckel syndrome, type 4
Joubert syndrome 5
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Senior-Loken syndrome 6

Criteria Provided
Conflicting Classifications

CA6712129

rs_750099379

3 SubmittersRCV000865008 RCV004733070 RCV005012386

NM_025114.4(CEP290):c.2873C>T (p.Ser958Phe)

SNV
Germline

Chr12:88102956

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Joubert syndrome 5
Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6
Leber congenital amaurosis
Bardet-Biedl syndrome 14
CEP290-related disorder
Genetic developmental and epileptic encephalopathy

Criteria Provided
Conflicting Classifications

CA6712248

rs_546463648

5 SubmittersRCV000868237 RCV001113516 RCV001113517 RCV001113518 RCV001113519 RCV001275027 RCV001113520 RCV004540210 RCV005626246

NM_025114.4(CEP290):c.2638G>T (p.Ala880Ser)

SNV
Germline

Chr12:88106854

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Senior-Loken syndrome 6
Joubert syndrome 5
Leber congenital amaurosis 10
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Kidney disorder
Leber congenital amaurosis
Retinal dystrophy
CEP290-related disorder
CEP290-related ciliopathy

Criteria Provided
Conflicting Classifications

CA6712294

rs_147362398

7 SubmittersRCV000864755 RCV001111620 RCV001111621 RCV001111622 RCV001111624 RCV001111623 RCV002294390 RCV001275029 RCV003889993 RCV004538226 RCV005359621

NM_004744.5(LRAT):c.611C>T (p.Ala204Val)

SNV
Germline

Chr4:154749054

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 14
Retinitis pigmentosa
Leber congenital amaurosis 14

Criteria Provided
Conflicting Classifications

CA3115915

rs_144754979

4 SubmittersRCV000877819 RCV005392494 RCV003132118

NM_001122769.3(LCA5):c.1642C>T (p.Pro548Ser)

SNV
Germline

Chr6:79487456

Conflicting classifications of pathogenicity

Leber congenital amaurosis 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3900794

rs_185347145

3 SubmittersRCV001158868 RCV000878192

NM_001122769.3(LCA5):c.902G>A (p.Arg301His)

SNV
Germline

Chr6:79492604

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis
Leber congenital amaurosis 5
LCA5-related disorder

Criteria Provided
Conflicting Classifications

CA3900984

rs_139142572

5 SubmittersRCV000878502 RCV001272075 RCV001160207 RCV004753064

NM_001122769.3(LCA5):c.338A>G (p.Asn113Ser)

SNV
Germline

Chr6:79513594

Conflicting classifications of pathogenicity

Leber congenital amaurosis 5
Condition: not provided
Leber congenital amaurosis
LCA5-related disorder

Criteria Provided
Conflicting Classifications

CA3901135

rs_181890907

4 SubmittersRCV001001709 RCV000878319 RCV001272080 RCV004753063

NM_000883.4(IMPDH1):c.1142A>G (p.His381Arg)

SNV
Germline

Chr7:128396955

Conflicting classifications of pathogenicity

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa
Leber congenital amaurosis 11

Criteria Provided
Conflicting Classifications

CA4470928

rs_61751223

6 SubmittersRCV000877808 RCV004818072 RCV001162852 RCV001162853

NM_001001557.4(GDF6):c.112G>C (p.Gly38Arg)

SNV
Germline

Chr8:96160581

Conflicting classifications of pathogenicity

Klippel-Feil syndrome 1, autosomal dominant
Leber congenital amaurosis 17
Isolated microphthalmia 4
Microphthalmia, isolated, with coloboma 6
Condition: not provided
Klippel-Feil syndrome 1, autosomal dominant
Congenital anomaly of kidney and urinary tract
GDF6-related disorder

Criteria Provided
Conflicting Classifications

CA4815552

rs_139075817

7 SubmittersRCV000878637 RCV001358275 RCV001168053 RCV001255225 RCV003955779

NM_001001557.4(GDF6):c.24C>G (p.Leu8=)

SNV
Germline

Chr8:96160669

Conflicting classifications of pathogenicity

Leber congenital amaurosis 17
Klippel-Feil syndrome 1, autosomal dominant
Microphthalmia, isolated, with coloboma 6
Isolated microphthalmia 4
Klippel-Feil syndrome 1, autosomal dominant
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4815569

rs_369859861

3 SubmittersRCV000878606 RCV001168054 RCV003432863

NM_025114.4(CEP290):c.1057C>T (p.Leu353=)

SNV
Germline

Chr12:88126324

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Meckel syndrome, type 4
Joubert syndrome 5
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Senior-Loken syndrome 6

Criteria Provided
Conflicting Classifications

CA241155305

rs_1036812157

2 SubmittersRCV000872788 RCV005012390

NM_020366.4(RPGRIP1):c.2435G>A (p.Arg812Gln)

SNV
Germline

Chr14:21325898

Conflicting classifications of pathogenicity

Condition: not provided
Cone-rod dystrophy 13
Leber congenital amaurosis 6
Cone-rod dystrophy 13
Leber congenital amaurosis 6
RPGRIP1-related disorder

Criteria Provided
Conflicting Classifications

CA7089260

rs_190490019

6 SubmittersRCV000878013 RCV001089439 RCV001110510 RCV001110511 RCV003930456

NM_014336.5(AIPL1):c.627G>A (p.Arg209=)

SNV
Germline

Chr17:6426896

Conflicting classifications of pathogenicity

Leber congenital amaurosis 4
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA8328456

rs_142319505

5 SubmittersRCV000877851 RCV001565523 RCV001701462

NM_014336.5(AIPL1):c.98T>C (p.Val33Ala)

SNV
Germline

Chr17:6434097

Conflicting classifications of pathogenicity

Leber congenital amaurosis 4
AIPL1-related disorder

Criteria Provided
Conflicting Classifications

CA8328623

rs_16955859

3 SubmittersRCV000878669 RCV004530884

NM_201253.3(CRB1):c.2976A>G (p.Ala992=)

SNV
Germline

Chr1:197434839

Conflicting classifications of pathogenicity

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa
Leber congenital amaurosis 8
Leber congenital amaurosis

Criteria Provided
Conflicting Classifications

CA1312253

rs_200379694

3 SubmittersRCV000951452 RCV001099306 RCV001099308 RCV001099307 RCV001271902

NM_001164688.2(RD3):c.519G>A (p.Val173=)

SNV
Germline

Chr1:211479105

Conflicting classifications of pathogenicity

Leber congenital amaurosis 12
Retinal dystrophy
not specified

Criteria Provided
Conflicting Classifications

CA1381048

rs_139419737

4 SubmittersRCV000952416 RCV004818087 RCV005436407

NM_001164688.2(RD3):c.494A>C (p.Asp165Ala)

SNV
Germline

Chr1:211479130

Conflicting classifications of pathogenicity

Leber congenital amaurosis 12

Criteria Provided
Conflicting Classifications

CA1381057

rs_149051185

3 SubmittersRCV001000627

NM_000329.3(RPE65):c.942C>T (p.His314=)

SNV
Germline

Chr1:68438998

Conflicting classifications of pathogenicity

Retinitis pigmentosa 20
Leber congenital amaurosis 2
Retinitis pigmentosa
Leber congenital amaurosis 2
Leber congenital amaurosis

Criteria Provided
Conflicting Classifications

CA902340

rs_752875512

3 SubmittersRCV000952170 RCV001102428 RCV001102429 RCV001836036

NM_003322.6(TULP1):c.771G>A (p.Thr257=)

SNV
Germline

Chr6:35509260

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 15
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA3772805

rs_189081258

3 SubmittersRCV000952659 RCV001156275 RCV001156276 RCV003890110

NM_001122769.3(LCA5):c.1800A>G (p.Lys600=)

SNV
Germline

Chr6:79487298

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 5

Criteria Provided
Conflicting Classifications

CA3900769

rs_147032284

3 SubmittersRCV000954664 RCV001163776

NM_000883.4(IMPDH1):c.930C>T (p.Thr310=)

SNV
Germline

Chr7:128398558

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 11
Retinitis pigmentosa
not specified
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA4470984

rs_150531977

5 SubmittersRCV000951821 RCV001159999 RCV001160000 RCV001700518 RCV003890105

NM_000883.4(IMPDH1):c.189A>G (p.Ser63=)

SNV
Germline

Chr7:128409442

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 11
Retinitis pigmentosa
IMPDH1-related disorder

Criteria Provided
Conflicting Classifications

CA4471256

rs_143796089

4 SubmittersRCV000945885 RCV001165040 RCV001165039 RCV004735905

NM_020366.4(RPGRIP1):c.2550G>A (p.Gln850=)

SNV
Germline

Chr14:21326013

Conflicting classifications of pathogenicity

Leber congenital amaurosis 6
Cone-rod dystrophy 13
Leber congenital amaurosis 6
Cone-rod dystrophy 13

Criteria Provided
Conflicting Classifications

CA7089294

rs_200268506

3 SubmittersRCV000951483 RCV001111271 RCV001111272

NM_020366.4(RPGRIP1):c.3171C>T (p.His1057=)

SNV
Germline

Chr14:21330320

Conflicting classifications of pathogenicity

Cone-rod dystrophy 13
Leber congenital amaurosis 6
Leber congenital amaurosis 6
Cone-rod dystrophy 13
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7089439

rs_201838837

6 SubmittersRCV000945648 RCV001109014 RCV001109015 RCV001701368 RCV001727824

NM_152443.3(RDH12):c.806C>G (p.Ala269Gly)

SNV
Germline

Chr14:67729338

Conflicting classifications of pathogenicity

Leber congenital amaurosis 13
Retinal dystrophy
Macular dystrophy with or without cone dysfunction
Leber congenital amaurosis

Criteria Provided
Conflicting Classifications

CA7238822

rs_116802390

7 SubmittersRCV000945760 RCV001073956 RCV005235499 RCV003230606

NM_014336.5(AIPL1):c.33G>C (p.Gly11=)

SNV
Germline

Chr17:6435072

Conflicting classifications of pathogenicity

Leber congenital amaurosis 4
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA8328681

rs_369223841

2 SubmittersRCV000950571 RCV001123502

NM_000180.4(GUCY2D):c.2164C>T (p.Arg722Trp)

SNV
Germline

Chr17:8013153

Conflicting classifications of pathogenicity

Cone-rod dystrophy 6
Leber congenital amaurosis 1
Condition: not provided
GUCY2D-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8366030

rs_34331388

4 SubmittersRCV000945910 RCV001811545 RCV004749555 RCV004029774

NM_000554.6(CRX):c.367A>G (p.Thr123Ala)

SNV
Germline

Chr19:47839434

Conflicting classifications of pathogenicity

Cone-rod dystrophy 2
Leber congenital amaurosis 7
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9544476

rs_755554804

2 SubmittersRCV002066221 RCV005540222

NM_201253.3(CRB1):c.161G>T (p.Cys54Phe)

SNV
Germline

Chr1:197328512

Conflicting classifications of pathogenicity

Leber congenital amaurosis 8
Retinitis pigmentosa
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Hereditary macular dystrophy
CRB1-related disorder
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Conflicting Classifications

CA1311586

rs_140428156

5 SubmittersRCV001100639 RCV001100909 RCV000964696 RCV001100910 RCV005359704 RCV004543616 RCV005012402

NM_201253.3(CRB1):c.2874C>T (p.Ser958=)

SNV
Germline

Chr1:197434737

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Leber congenital amaurosis

Criteria Provided
Conflicting Classifications

CA1312240

rs_372778560

3 SubmittersRCV001099305 RCV000964760 RCV001097541 RCV001097542 RCV001271900

NM_003322.6(TULP1):c.603G>A (p.Gly201=)

SNV
Germline

Chr6:35509749

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 15
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA3772861

rs_117920214

3 SubmittersRCV000960806 RCV001157950 RCV001157949

NM_000329.3(RPE65):c.1154C>T (p.Thr385Met)

SNV
Germline

Chr1:68431560

Conflicting classifications of pathogenicity

Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis 2
RPE65-related disorder
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA902266

rs_201379753

5 SubmittersRCV000884725 RCV001098673 RCV004530925 RCV001098674 RCV003890011

NM_000883.4(IMPDH1):c.1668C>T (p.Ile556=)

SNV
Germline

Chr7:128394482

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 11
Retinitis pigmentosa
not specified

Criteria Provided
Conflicting Classifications

CA4470760

rs_201803921

4 SubmittersRCV000883210 RCV001164810 RCV001164811 RCV001701347

NM_152443.3(RDH12):c.138C>T (p.Gly46=)

SNV
Germline

Chr14:67724542

Conflicting classifications of pathogenicity

Leber congenital amaurosis 13
Retinitis Pigmentosa, Recessive

Criteria Provided
Conflicting Classifications

CA7238609

rs_140371232

2 SubmittersRCV000884795 RCV001114991

NM_018418.5(SPATA7):c.57G>A (p.Pro19=)

SNV
Germline

Chr14:88391418

Conflicting classifications of pathogenicity

Leber congenital amaurosis 3
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA7298358

rs_367830780

3 SubmittersRCV000893008 RCV001117275 RCV003890023

NM_020366.4(RPGRIP1):c.1078-9C>A

SNV
Germline

Chr14:21312424

Conflicting classifications of pathogenicity

Cone-rod dystrophy 13
Leber congenital amaurosis 6
Leber congenital amaurosis 6
Cone-rod dystrophy 13

Criteria Provided
Conflicting Classifications

CA7088863

rs_371312060

3 SubmittersRCV000879291 RCV001114452 RCV001114453

NM_000180.4(GUCY2D):c.1750-7C>G

SNV
Germline

Chr17:8012137

Conflicting classifications of pathogenicity

Cone-rod dystrophy 6
Leber congenital amaurosis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8365887

rs_918147589

2 SubmittersRCV001486153 RCV003442130

NM_001164688.2(RD3):c.102G>A (p.Thr34=)

SNV
Germline

Chr1:211481314

Conflicting classifications of pathogenicity

Leber congenital amaurosis 12

Criteria Provided
Conflicting Classifications

CA1381156

rs_199511076

2 SubmittersRCV000909201

NM_001122769.3(LCA5):c.1677G>A (p.Ser559=)

SNV
Germline

Chr6:79487421

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 5

Criteria Provided
Conflicting Classifications

CA3900784

rs_144098531

2 SubmittersRCV000904468 RCV001158866

NM_001122769.3(LCA5):c.1656A>G (p.Ala552=)

SNV
Germline

Chr6:79487442

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 5

Criteria Provided
Conflicting Classifications

CA3900789

rs_368885365

2 SubmittersRCV000907262 RCV001158867

NM_000883.4(IMPDH1):c.1662G>A (p.Gln554=)

SNV
Germline

Chr7:128394488

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Leber congenital amaurosis 11

Criteria Provided
Conflicting Classifications

CA4470762

rs_139785999

2 SubmittersRCV000904634 RCV001164813 RCV001164812

NM_000329.3(RPE65):c.783G>T (p.Leu261=)

SNV
Germline

Chr1:68439266

Conflicting classifications of pathogenicity

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Retinitis pigmentosa
Leber congenital amaurosis 2
Leber congenital amaurosis
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA902396

rs_188493184

4 SubmittersRCV000922726 RCV001098759 RCV001098760 RCV001275284 RCV003890070

NM_000329.3(RPE65):c.1338+8A>G

SNV
Germline

Chr1:68431274

Conflicting classifications of pathogenicity

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA902206

rs_777211540

2 SubmittersRCV000912094 RCV001102319 RCV001102320

NM_000329.3(RPE65):c.95-10T>A

SNV
Germline

Chr1:68446870

Conflicting classifications of pathogenicity

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Retinitis pigmentosa
Leber congenital amaurosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA902601

rs_547374432

4 SubmittersRCV000926497 RCV001100688 RCV001100687 RCV001729747

NM_025114.4(CEP290):c.6358-5C>T

SNV
Germline

Chr12:88060999

Conflicting classifications of pathogenicity

Senior-Loken syndrome 6
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Joubert syndrome 5
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
Leber congenital amaurosis
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA6711508

rs_372986399

4 SubmittersRCV001110040 RCV001110041 RCV001110042 RCV001110043 RCV001114082 RCV000915534 RCV001272014 RCV004533513

NM_000329.3(RPE65):c.1430A>G (p.Asp477Gly)

SNV
Germline

Chr1:68431085

Pathogenic/Likely pathogenic

Retinitis pigmentosa 87 with choroidal involvement
RPE65-related disorder
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Retinal dystrophy
Retinitis pigmentosa 20
Neurodevelopmental disorder
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA340741778

rs_1571158279

7 SubmittersRCV000927801 RCV001034696 RCV001068036 RCV001074701 RCV001376263 RCV002279647 RCV003117646

NM_000329.3(RPE65):c.375A>G (p.Gly125=)

SNV
Germline

Chr1:68444651

Conflicting classifications of pathogenicity

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Retinitis pigmentosa
Leber congenital amaurosis 2
Leber congenital amaurosis
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA902518

rs_992113946

4 SubmittersRCV000933065 RCV001097115 RCV001097116 RCV001275287 RCV003890087

NM_201253.3(CRB1):c.3878+9C>T

SNV
Germline

Chr1:197438684

Conflicting classifications of pathogenicity

Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Conflicting Classifications

CA915941980

rs_1571564812

2 SubmittersRCV001199229 RCV001466667

NM_003322.6(TULP1):c.823-4A>G

SNV
Germline

Chr6:35506283

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Leber congenital amaurosis 15
not specified

Criteria Provided
Conflicting Classifications

CA3772784

rs_200264819

3 SubmittersRCV000945772 RCV001152398 RCV001152399 RCV001000630

NM_018418.5(SPATA7):c.19+7G>A

SNV
Germline

Chr14:88385844

Conflicting classifications of pathogenicity

Leber congenital amaurosis 3
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA7298310

rs_199560035

2 SubmittersRCV000945395 RCV001117274

NM_022787.4(NMNAT1):c.23A>C (p.Glu8Ala)

SNV
Germline

Chr1:9972096

Conflicting classifications of pathogenicity

Leber congenital amaurosis 9
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA579120

rs_61740429

2 SubmittersRCV000981760 RCV004649392

NM_022787.4(NMNAT1):c.493G>A (p.Val165Ile)

SNV
Germline

Chr1:9982354

Conflicting classifications of pathogenicity

Leber congenital amaurosis 9
Inborn genetic diseases
Condition: not provided
NMNAT1-related disorder
Leber congenital amaurosis 9
Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis

Criteria Provided
Conflicting Classifications

CA579269

rs_202057799

5 SubmittersRCV000981705 RCV002550566 RCV004711489 RCV003962951 RCV005392613

NM_000180.4(GUCY2D):c.1160T>A (p.Val387Asp)

SNV
Germline

Chr17:8006496

Conflicting classifications of pathogenicity

Cone-rod dystrophy 6
Leber congenital amaurosis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8365670

rs_755223158

2 SubmittersRCV000983924 RCV004726753

NM_201253.3(CRB1):c.488G>T (p.Cys163Phe)

SNV
Unknown

Chr1:197328839

Likely pathogenic

Leber congenital amaurosis 1

Criteria Provided
Single Submitter

CA344085885

rs_1571848855

1 SubmittersRCV000986482

NM_201253.3(CRB1):c.984G>A (p.Trp328Ter)

SNV
Germline

Chr1:197347475

Pathogenic

Leber congenital amaurosis 1
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA344084273

rs_1571878277

4 SubmittersRCV000986486 RCV001858643 RCV003454996 RCV003454997 RCV005001126

NM_201253.3(CRB1):c.1313G>A (p.Cys438Tyr)

SNV
Germline

Chr1:197421141

Conflicting classifications of pathogenicity

Leber congenital amaurosis 1
Condition: not provided
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12
not specified

Criteria Provided
Conflicting Classifications

CA344030332

rs_1571522690

5 SubmittersRCV000986487 RCV001759677 RCV003454998 RCV003454999 RCV003455000 RCV005012407 RCV004586998

NM_201253.3(CRB1):c.1633T>C (p.Ser545Pro)

SNV
Germline

Chr1:197421461

Conflicting classifications of pathogenicity

Leber congenital amaurosis 1
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Conflicting Classifications

CA344031791

rs_1571524102

2 SubmittersRCV000986489 RCV001339131

NM_201253.3(CRB1):c.1843G>A (p.Gly615Ser)

SNV
Unknown

Chr1:197421671

Likely pathogenic

Leber congenital amaurosis 1

Criteria Provided
Single Submitter

CA344032738

rs_1571525145

1 SubmittersRCV000986490

NM_201253.3(CRB1):c.3653G>A (p.Cys1218Tyr)

SNV
Germline

Chr1:197435516

Conflicting classifications of pathogenicity

Leber congenital amaurosis 1
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA344050247

rs_1450635782

5 SubmittersRCV000986496 RCV001858644 RCV001824163 RCV001726405 RCV003331014

NM_201253.3(CRB1):c.3961T>G (p.Cys1321Gly)

SNV
Germline

Chr1:197442248

Likely pathogenic

Leber congenital amaurosis 1
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Multiple Submitters
No Conflicts

CA344052628

rs_62635649

7 SubmittersRCV000986497 RCV001809876 RCV003455006 RCV002489456 RCV003455005 RCV003769294

NM_000329.3(RPE65):c.1583G>T (p.Gly528Val)

SNV
Germline

Chr1:68429795

Likely pathogenic

Leber congenital amaurosis 2
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA340740566

rs_1193631220

4 SubmittersRCV000986326 RCV005427492

NM_000329.3(RPE65):c.1243G>A (p.Ala415Thr)

SNV
Germline

Chr1:68431471

Pathogenic/Likely pathogenic

Leber congenital amaurosis 2
Leber congenital amaurosis 2
Retinitis pigmentosa 20

Criteria Provided
Multiple Submitters
No Conflicts

CA340742798

rs_1571158755

2 SubmittersRCV000986327 RCV001858636

NM_000329.3(RPE65):c.1004A>T (p.Glu335Val)

SNV
Unknown

Chr1:68438311

Likely pathogenic

Leber congenital amaurosis 2

Criteria Provided
Single Submitter

CA340744471

rs_1571164534

1 SubmittersRCV000986329

NM_000329.3(RPE65):c.560G>A (p.Gly187Glu)

SNV
Germline

Chr1:68440936

Pathogenic

Leber congenital amaurosis 2
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Condition: not provided
RPE65-related disorder
Leber congenital amaurosis
Retinitis pigmentosa
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA902468

rs_752058510

7 SubmittersRCV000986330 RCV001219364 RCV001585895 RCV002255100 RCV003324538 RCV003324537 RCV003769292

NM_004744.5(LRAT):c.163C>G (p.Arg55Gly)

SNV
Germline

Chr4:154744489

Pathogenic/Likely pathogenic

Leber congenital amaurosis 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA358630110

rs_527236079

2 SubmittersRCV000987482 RCV001858668

NM_004744.5(LRAT):c.298G>A (p.Gly100Ser)

SNV
Germline

Chr4:154744624

Conflicting classifications of pathogenicity

Leber congenital amaurosis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA108930213

rs_1035206645

2 SubmittersRCV000987483 RCV002549681

NM_004744.5(LRAT):c.346T>C (p.Phe116Leu)

SNV
Germline

Chr4:154744672

Conflicting classifications of pathogenicity

Leber congenital amaurosis 1
Leber congenital amaurosis 14
Condition: not provided

Criteria Provided
Conflicting Classifications

CA358630499

rs_1578860322

3 SubmittersRCV000987484 RCV002250709 RCV001858669

NM_006017.3(PROM1):c.1984-1G>T

SNV
Germline

Chr4:15989825

Pathogenic

Retinitis pigmentosa 41
Condition: not provided
Stargardt disease
PROM1-related disorder
Cone-rod dystrophy
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA2866549

rs_373680665

6 SubmittersRCV000987420 RCV001049161 RCV002467454 RCV004536013 RCV003324540 RCV003324541

NM_006017.3(PROM1):c.784+1G>A

SNV
Germline

Chr4:16023325

Pathogenic/Likely pathogenic

Retinitis pigmentosa 41
Condition: not provided
Retinal dystrophy
Stargardt disease
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA2866962

rs_745704627

5 SubmittersRCV000987424 RCV001047807 RCV001075553 RCV002466264 RCV003324543

NM_003322.6(TULP1):c.1560C>A (p.Tyr520Ter)

SNV
Germline

Chr6:35498396

Pathogenic

Leber congenital amaurosis 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA3772515

rs_773968778

2 SubmittersRCV000987685 RCV002550602

NM_003322.6(TULP1):c.1082G>A (p.Arg361Gln)

SNV
Germline

Chr6:35505771

Conflicting classifications of pathogenicity

Leber congenital amaurosis 1
Retinal dystrophy
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA363779665

rs_1313593155

4 SubmittersRCV000987687 RCV001074965 RCV001240687 RCV005408613

NM_003322.6(TULP1):c.931C>T (p.Arg311Trp)

SNV
Germline

Chr6:35506071

Pathogenic/Likely pathogenic

Leber congenital amaurosis 1
Condition: not provided
Retinitis pigmentosa 14
Leber congenital amaurosis 15
Retinitis pigmentosa 14
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA363780231

rs_373519519

5 SubmittersRCV000987688 RCV001301120 RCV001809877 RCV004796336 RCV005432513

NM_001122769.3(LCA5):c.955G>A (p.Ala319Thr)

SNV
Germline

Chr6:79492551

Pathogenic/Likely pathogenic

Leber congenital amaurosis 1
Condition: not provided
Leber congenital amaurosis 5

Criteria Provided
Multiple Submitters
No Conflicts

CA364644392

rs_1178243254

3 SubmittersRCV000987743 RCV001869350 RCV003473531

NM_025114.4(CEP290):c.223A>G (p.Lys75Glu)

SNV
Germline

Chr12:88139522

Conflicting classifications of pathogenicity

Joubert syndrome 1
Retinal dystrophy
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
not specified
Retinitis pigmentosa
Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6
Joubert syndrome 5
Bardet-Biedl syndrome 14

Criteria Provided
Conflicting Classifications

CA6712876

rs_779010679

6 SubmittersRCV000988892 RCV001075119 RCV001210117 RCV003317407 RCV003324546 RCV005012415

NM_020366.4(RPGRIP1):c.800G>A (p.Arg267Gln)

SNV
Germline

Chr14:21303543

Conflicting classifications of pathogenicity

Leber congenital amaurosis 1
Cone-rod dystrophy 13
Leber congenital amaurosis 6

Criteria Provided
Conflicting Classifications

CA7088744

rs_758239674

2 SubmittersRCV000989169 RCV001869358

NM_020366.4(RPGRIP1):c.800+1G>A

SNV
Germline

Chr14:21303544

Pathogenic/Likely pathogenic

Leber congenital amaurosis 1
Condition: not provided
Cone-rod dystrophy 13
Cone-rod dystrophy 13
Leber congenital amaurosis 6
Leber congenital amaurosis 6
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA7088745

rs_376500610

5 SubmittersRCV000989170 RCV000995111 RCV001800908 RCV001228179 RCV001800907 RCV004818098

NM_020366.4(RPGRIP1):c.2468A>G (p.Tyr823Cys)

SNV
Germline

Chr14:21325931

Conflicting classifications of pathogenicity

Leber congenital amaurosis 1
Leber congenital amaurosis 6
Cone-rod dystrophy 13

Criteria Provided
Conflicting Classifications

CA257536134

rs_751521888

2 SubmittersRCV000989175 RCV001869359

NM_152443.3(RDH12):c.125T>C (p.Val42Ala)

SNV
Unknown

Chr14:67724529

Likely pathogenic

Leber congenital amaurosis 13

Criteria Provided
Single Submitter

CA390147909

rs_1594865036

1 SubmittersRCV000989237

NM_152443.3(RDH12):c.178G>C (p.Ala60Pro)

SNV
Germline

Chr14:67724582

Likely pathogenic

Leber congenital amaurosis 13

Criteria Provided
Multiple Submitters
No Conflicts

CA390148335

rs_749038454

2 SubmittersRCV000989238

NM_152443.3(RDH12):c.325G>C (p.Ala109Pro)

SNV
Unknown

Chr14:67725236

Likely pathogenic

Leber congenital amaurosis 13

Criteria Provided
Single Submitter

CA390148856

rs_1594865434

1 SubmittersRCV000989239

NM_000180.4(GUCY2D):c.1957-2A>G

SNV
Germline

Chr17:8012448

Pathogenic

Cone-rod dystrophy 6
Leber congenital amaurosis 1
Leber congenital amaurosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA287531123

rs_945734402

3 SubmittersRCV001051980 RCV001593166

NM_152443.3(RDH12):c.164C>T (p.Thr55Met)

SNV
Germline

Chr14:67724568

Pathogenic/Likely pathogenic

Leber congenital amaurosis 13
Leber congenital amaurosis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA7238616

rs_766631462

11 SubmittersRCV000993753 RCV001003153 RCV001091052

NM_152443.3(RDH12):c.440A>C (p.Asn147Thr)

SNV
Germline

Chr14:67726147

Conflicting classifications of pathogenicity

Macular dystrophy
Retinal dystrophy
Leber congenital amaurosis 13

Criteria Provided
Conflicting Classifications

CA390150338

rs_1566847499

3 SubmittersRCV000993750 RCV001075448 RCV005012423

NM_152443.3(RDH12):c.619A>G (p.Asn207Asp)

SNV
Germline

Chr14:67727151

Pathogenic/Likely pathogenic

Leber congenital amaurosis 13
RDH12-related disorder
Macular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA7238762

rs_745871149

5 SubmittersRCV001255717 RCV004735926 RCV000993749

NM_152443.3(RDH12):c.697G>A (p.Val233Ile)

SNV
Germline

Chr14:67729229

Likely pathogenic

Macular dystrophy
Leber congenital amaurosis 13

Criteria Provided
Single Submitter

CA390152927

rs_140257538

2 SubmittersRCV000993751 RCV005012424

NM_201253.3(CRB1):c.2687G>A (p.Cys896Tyr)

SNV
Germline

Chr1:197429459

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 12
Leber congenital amaurosis 8
not specified
Retinitis pigmentosa 12

Criteria Provided
Conflicting Classifications

CA344040380

rs_1571544334

6 SubmittersRCV000994218 RCV001199673 RCV003769329 RCV004800653 RCV003455016

NM_001312673.2(PCYT1A):c.471C>G (p.Phe157Leu)

SNV
Germline

Chr3:196247382

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis

Criteria Provided
Conflicting Classifications

CA355612497

rs_1577358031

2 SubmittersRCV000998195 RCV001199491

NM_001122769.3(LCA5):c.1444C>T (p.Arg482Ter)

SNV
Germline

Chr6:79487654

Pathogenic/Likely pathogenic

Condition: not provided
Leber congenital amaurosis 5

Criteria Provided
Multiple Submitters
No Conflicts

CA364640795

rs_1182277140

4 SubmittersRCV000998655 RCV003467560

NM_025114.4(CEP290):c.7048C>T (p.Gln2350Ter)

SNV
Germline

Chr12:88053733

Pathogenic

Condition: not provided
Nephronophthisis
Joubert syndrome
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14
CEP290-related disorder
Retinal dystrophy
Joubert syndrome 5
Meckel syndrome, type 4
Senior-Loken syndrome 6
Leber congenital amaurosis 10
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA6711362

rs_375548374

6 SubmittersRCV000994952 RCV001386103 RCV003467556 RCV004536027 RCV004818114 RCV005012429

NM_020366.4(RPGRIP1):c.906+2T>G

SNV
Germline

Chr14:21307838

Conflicting classifications of pathogenicity

Condition: not provided
Cone-rod dystrophy
Cone-rod dystrophy 13
Leber congenital amaurosis 6

Criteria Provided
Conflicting Classifications

CA388861796

rs_1594180201

3 SubmittersRCV000995112 RCV001199771 RCV001800910 RCV001800909

NM_020366.4(RPGRIP1):c.1612-3C>A

SNV
Germline

Chr14:21321851

Conflicting classifications of pathogenicity

Condition: not provided
Cone-rod dystrophy
Leber congenital amaurosis 6
Cone-rod dystrophy 13

Criteria Provided
Conflicting Classifications

CA915948863

rs_1594204748

3 SubmittersRCV000995113 RCV001199772 RCV001800911 RCV001800912

NM_000180.4(GUCY2D):c.2513G>C (p.Arg838Pro)

SNV
Germline

Chr17:8014701

Pathogenic

not specified
Retinal dystrophy
Cone-rod dystrophy 6
Leber congenital amaurosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA397953618

rs_61750173

3 SubmittersRCV001002057 RCV001075542 RCV001869428

NM_201253.3(CRB1):c.455G>A (p.Cys152Tyr)

SNV
Germline

Chr1:197328806

Pathogenic/Likely pathogenic

Leber congenital amaurosis
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Retinal dystrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Multiple Submitters
No Conflicts

CA344085812

rs_1571848744

4 SubmittersRCV001002988 RCV003455044 RCV003455043 RCV001074569 RCV001377780

NM_201253.3(CRB1):c.1733T>A (p.Val578Glu)

SNV
Germline

Chr1:197421561

Conflicting classifications of pathogenicity

Leber congenital amaurosis
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Retinitis pigmentosa 12

Criteria Provided
Conflicting Classifications

CA344032344

rs_1266363944

3 SubmittersRCV001002992 RCV002549196 RCV001376464

NM_201253.3(CRB1):c.1844G>T (p.Gly615Val)

SNV
Germline

Chr1:197421672

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Condition: not provided
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Multiple Submitters
No Conflicts

CA344032742

rs_768905244

5 SubmittersRCV001002993 RCV001593178 RCV001860526 RCV003455046 RCV003455045

NM_201253.3(CRB1):c.2498G>A (p.Gly833Asp)

SNV
Germline

Chr1:197427823

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Leber congenital amaurosis 8
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA344037805

rs_1571540258

5 SubmittersRCV001002995 RCV001250627 RCV001862718 RCV004818139

NM_000329.3(RPE65):c.227A>C (p.His76Pro)

SNV
Germline

Chr1:68446728

Pathogenic

Leber congenital amaurosis

No Assertion Criteria Provided

CA340748920

rs_1571172233

1 SubmittersRCV001003188

NM_003322.6(TULP1):c.1349G>A (p.Trp450Ter)

SNV
Germline

Chr6:35500127

Pathogenic

Leber congenital amaurosis
Condition: not provided

Criteria Provided
Single Submitter

CA363778947

rs_1581736099

2 SubmittersRCV001003239 RCV003558630

NM_003322.6(TULP1):c.1047T>G (p.Asn349Lys)

SNV
Germline

Chr6:35505806

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 14
Leber congenital amaurosis 15

Criteria Provided
Multiple Submitters
No Conflicts

CA3772701

rs_763272975

6 SubmittersRCV001003241 RCV001073990 RCV001093078 RCV005047188

NM_001122769.3(LCA5):c.1171A>T (p.Lys391Ter)

SNV
Germline

Chr6:79489144

Pathogenic

Leber congenital amaurosis

No Assertion Criteria Provided

CA364642497

rs_765473119

1 SubmittersRCV001003072

NM_019892.6(INPP5E):c.1862G>A (p.Arg621Gln)

SNV
Germline

Chr9:136429748

Pathogenic/Likely pathogenic

Leber congenital amaurosis
Rod-cone dystrophy
Joubert syndrome and related disorders
Joubert syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA375560232

rs_1588830568

4 SubmittersRCV001003058 RCV001376300 RCV002282421 RCV002549199

NM_025114.4(CEP290):c.5788A>T (p.Lys1930Ter)

SNV
Germline

Chr12:88071848

Pathogenic

Leber congenital amaurosis
Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Retinal dystrophy
Joubert syndrome 5
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA385984785

rs_1592784618

5 SubmittersRCV001002935 RCV001860525 RCV003890157 RCV004004474 RCV003467562

NM_020366.4(RPGRIP1):c.2935C>T (p.Gln979Ter)

SNV
Germline

Chr14:21328463

Pathogenic

Retinitis pigmentosa
Leber congenital amaurosis 6
Cone-rod dystrophy 13

Criteria Provided
Single Submitter

CA388870957

rs_1371805993

2 SubmittersRCV001003210 RCV001862727

NM_014336.5(AIPL1):c.215G>A (p.Trp72Ter)

SNV
Germline

Chr17:6433980

Pathogenic

Leber congenital amaurosis
Condition: not provided
Leber congenital amaurosis 4

Criteria Provided
Multiple Submitters
No Conflicts

CA397397294

rs_1468041544

3 SubmittersRCV001002864 RCV003226992 RCV001380823

NM_014336.5(AIPL1):c.211G>T (p.Val71Phe)

SNV
Germline

Chr17:6433984

Pathogenic

Leber congenital amaurosis
Leber congenital amaurosis 4

Criteria Provided
Single Submitter

CA8328593

rs_775364986

3 SubmittersRCV001002865 RCV001172386

NM_000180.4(GUCY2D):c.1992T>G (p.His664Gln)

SNV
Germline

Chr17:8012485

Pathogenic

Leber congenital amaurosis

No Assertion Criteria Provided

CA397952164

rs_1598149187

1 SubmittersRCV001003039

NM_000180.4(GUCY2D):c.2129C>T (p.Ala710Val)

SNV
Germline

Chr17:8013118

Likely pathogenic

Leber congenital amaurosis

No Assertion Criteria Provided

CA287531867

rs_781725943

1 SubmittersRCV001003040

NM_000180.4(GUCY2D):c.2538G>C (p.Lys846Asn)

SNV
Germline

Chr17:8014726

Pathogenic

Cone-rod dystrophy 6
Leber congenital amaurosis 1
Cone-rod dystrophy

Criteria Provided
Single Submitter

CA397953725

rs_1598150539

2 SubmittersRCV001860527 RCV002267758

NM_201253.3(CRB1):c.4005+1G>A

SNV
Germline

Chr1:197442293

Pathogenic

Leber congenital amaurosis
Leber congenital amaurosis 8
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Retinal dystrophy
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Multiple Submitters
No Conflicts

CA35913902

rs_890453675

7 SubmittersRCV001003000 RCV001250622 RCV002549197 RCV004818140 RCV005012435

NM_004928.3(CFAP410):c.643-2A>G

SNV
Germline

Chr21:44330328

Pathogenic

Leber congenital amaurosis

No Assertion Criteria Provided

CA410448631

rs_1602071524

1 SubmittersRCV001002898

NM_201253.3(CRB1):c.2133T>A (p.Tyr711Ter)

SNV
Germline

Chr1:197427458

Pathogenic

Leber congenital amaurosis

Criteria Provided
Single Submitter

CA344036295

rs_772794324

1 SubmittersRCV001199672

NM_201253.3(CRB1):c.2809G>C (p.Ala937Pro)

SNV
Germline

Chr1:197429581

Pathogenic

Leber congenital amaurosis

Criteria Provided
Single Submitter

CA344041279

rs_114630940

1 SubmittersRCV001199674

NM_000329.3(RPE65):c.1451G>T (p.Gly484Val)

SNV
Germline

Chr1:68429927

Pathogenic

Leber congenital amaurosis
RPE65-related recessive retinopathy
Leber congenital amaurosis 2
Retinitis pigmentosa 20

Reviewed By Expert Panel

CA902151

rs_62653015

4 SubmittersRCV001199757 RCV004527406 RCV003769401

NM_022787.4(NMNAT1):c.629T>C (p.Ile210Thr)

SNV
Germline

Chr1:9982490

Pathogenic

Leber congenital amaurosis

Criteria Provided
Single Submitter

CA338686974

rs_1641970512

1 SubmittersRCV001199715

NM_022787.4(NMNAT1):c.680G>A (p.Arg227Gln)

SNV
Germline

Chr1:9982541

Pathogenic/Likely pathogenic

Leber congenital amaurosis 9
Cone-rod dystrophy
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA579311

rs_751644763

3 SubmittersRCV001862732 RCV001199714 RCV001073398

NM_000883.4(IMPDH1):c.71G>C (p.Arg24Pro)

SNV
Germline

Chr7:128409831

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Leber congenital amaurosis 11

Criteria Provided
Conflicting Classifications

CA166138005

rs_946898300

3 SubmittersRCV001158326 RCV001305635 RCV001158325

NM_025114.4(CEP290):c.102+1G>T

SNV
Germline

Chr12:88141205

Pathogenic

Condition: not provided
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA385990067

rs_2040637111

2 SubmittersRCV001091343 RCV001199657

NM_201253.3(CRB1):c.1147T>C (p.Cys383Arg)

SNV
Germline

Chr1:197356989

Conflicting classifications of pathogenicity

Leber congenital amaurosis 8
not specified

Criteria Provided
Conflicting Classifications

CA344084630

rs_1571897130

2 SubmittersRCV001004994 RCV004526794

NM_025114.4(CEP290):c.829G>T (p.Glu277Ter)

SNV
Germline

Chr12:88129717

Pathogenic/Likely pathogenic

Leber congenital amaurosis 10
Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14
Joubert syndrome 5
Meckel syndrome, type 4
Senior-Loken syndrome 6
Leber congenital amaurosis 10
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA385984278

rs_45502896

4 SubmittersRCV001004996 RCV001860572 RCV002479201 RCV003467577

NM_020366.4(RPGRIP1):c.1468-263G>C

SNV
Germline

Chr14:21320996

Pathogenic

Leber congenital amaurosis 6

Criteria Provided
Single Submitter

CA915948862

rs_1594202505

1 SubmittersRCV001005012

NM_020366.4(RPGRIP1):c.1611+27G>A

SNV
Germline

Chr14:21321429

Likely pathogenic

Leber congenital amaurosis 6

Criteria Provided
Single Submitter

CA658795159

rs_1594203796

1 SubmittersRCV001005013

NM_020366.4(RPGRIP1):c.3238+1G>A

SNV
Germline

Chr14:21330388

Pathogenic

Leber congenital amaurosis 6

Criteria Provided
Single Submitter

CA388872386

rs_1325103400

1 SubmittersRCV001005014

NM_004744.5(LRAT):c.139C>T (p.Arg47Ter)

SNV
Germline

Chr4:154744465

Pathogenic/Likely pathogenic

Condition: not provided
Leber congenital amaurosis 14
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA108930202

rs_779996159

3 SubmittersRCV001008711 RCV005394622

NM_003322.6(TULP1):c.901C>T (p.Gln301Ter)

SNV
Germline

Chr6:35506101

Pathogenic

Retinitis pigmentosa 14
Leber congenital amaurosis
Autosomal recessive retinitis pigmentosa
Abnormality of the eye
Condition: not provided
Leber congenital amaurosis 15

Criteria Provided
Multiple Submitters
No Conflicts

CA363780306

rs_201070350

8 SubmittersRCV001028029 RCV001251337 RCV001257786 RCV001814258 RCV001054314 RCV001255925

NM_000329.3(RPE65):c.617T>C (p.Ile206Thr)

SNV
Germline

Chr1:68440879

Likely pathogenic

Retinitis pigmentosa 20
Retinal dystrophy
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Retinitis pigmentosa 87 with choroidal involvement

Criteria Provided
Multiple Submitters
No Conflicts

CA902456

rs_768445391

5 SubmittersRCV001029769 RCV001073324 RCV001208105 RCV001836068 RCV005036298

NM_025114.4(CEP290):c.297+1G>A

SNV
Germline

Chr12:88139144

Pathogenic

Leber congenital amaurosis 10
Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14
Joubert syndrome 5
Meckel syndrome, type 4
Senior-Loken syndrome 6
Leber congenital amaurosis 10

Criteria Provided
Multiple Submitters
No Conflicts

CA385988563

rs_878853360

3 SubmittersRCV001029956 RCV001380322 RCV002479228

NM_152443.3(RDH12):c.149G>A (p.Gly50Asp)

SNV
Germline

Chr14:67724553

Likely pathogenic

Leber congenital amaurosis 13

No Assertion Criteria Provided

CA390148112

rs_1594865064

1 SubmittersRCV001029918

NM_201253.3(CRB1):c.490C>T (p.Gln164Ter)

SNV
Germline

Chr1:197328841

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344085889

rs_1658684590

1 SubmittersRCV001055799

NM_201253.3(CRB1):c.522T>A (p.Cys174Ter)

SNV
Germline

Chr1:197328873

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA344085956

rs_1658688864

2 SubmittersRCV001047854 RCV005012478

NM_201253.3(CRB1):c.1136C>G (p.Ser379Ter)

SNV
Germline

Chr1:197356978

Pathogenic/Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA344084608

rs_1660516364

2 SubmittersRCV001052034 RCV003473646

NM_201253.3(CRB1):c.2054G>T (p.Gly685Val)

SNV
Germline

Chr1:197421882

Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA35893990

rs_748175297

1 SubmittersRCV001044718

NM_201253.3(CRB1):c.2300T>C (p.Leu767Pro)

SNV
Germline

Chr1:197427625

Conflicting classifications of pathogenicity

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinal dystrophy
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis
Condition: not provided
Retinitis pigmentosa 12

Criteria Provided
Conflicting Classifications

CA344036931

rs_1451348539

7 SubmittersRCV001042149 RCV001074779 RCV003455171 RCV003455172 RCV001827256 RCV004768801 RCV003455170

NM_201253.3(CRB1):c.2570T>G (p.Leu857Arg)

SNV
Germline

Chr1:197427895

Conflicting classifications of pathogenicity

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12
not specified

Criteria Provided
Conflicting Classifications

CA344038325

rs_1664678030

3 SubmittersRCV001038213 RCV001376351 RCV004587017

NM_201253.3(CRB1):c.3014A>T (p.Asp1005Val)

SNV
Germline

Chr1:197434877

Pathogenic/Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Retinal dystrophy
Leber congenital amaurosis 8
Leber congenital amaurosis
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Multiple Submitters
No Conflicts

CA1312260

rs_369184026

7 SubmittersRCV001049924 RCV001073588 RCV001250611 RCV001832464 RCV003455212 RCV003455213 RCV005012488

NM_201253.3(CRB1):c.3329T>G (p.Phe1110Cys)

SNV
Germline

Chr1:197435192

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344047105

rs_1665086143

1 SubmittersRCV001058927

NM_201253.3(CRB1):c.3488G>T (p.Cys1163Phe)

SNV
Germline

Chr1:197435351

Pathogenic/Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA1312343

rs_768713412

3 SubmittersRCV001049160 RCV003473638 RCV004813609

NM_201253.3(CRB1):c.3996C>A (p.Cys1332Ter)

SNV
Germline

Chr1:197442283

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Condition: not provided
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA344052722

rs_1665487563

3 SubmittersRCV001044149 RCV001531025 RCV003455181 RCV003455182

NM_201253.3(CRB1):c.4148G>A (p.Arg1383His)

SNV
Germline

Chr1:197477806

Conflicting classifications of pathogenicity

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis
Hereditary macular dystrophy

Criteria Provided
Conflicting Classifications

CA1312561

rs_200573274

3 SubmittersRCV001051385 RCV001275661 RCV005359815

NM_201253.3(CRB1):c.4207G>C (p.Glu1403Gln)

SNV
Germline

Chr1:197477865

Pathogenic/Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Multiple Submitters
No Conflicts

CA344036086

rs_1667269806

3 SubmittersRCV001065861 RCV003473688 RCV005012522

NM_000329.3(RPE65):c.1445A>G (p.Asp482Gly)

SNV
Germline

Chr1:68431070

Likely pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2
Condition: not provided
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA902169

rs_749242996

3 SubmittersRCV001054425 RCV001559438 RCV005253695

NM_000329.3(RPE65):c.1301C>A (p.Ala434Glu)

SNV
Germline

Chr1:68431319

Likely pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis
RPE65-related recessive retinopathy
Retinitis pigmentosa 20

Reviewed By Expert Panel

CA340742486

rs_34627040

5 SubmittersRCV001054822 RCV001250697 RCV001827346 RCV004527410 RCV005623082

NM_000329.3(RPE65):c.507C>A (p.Cys169Ter)

SNV
Germline

Chr1:68440989

Pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20

Criteria Provided
Single Submitter

CA340747211

rs_1645898563

1 SubmittersRCV001039691

NM_022787.4(NMNAT1):c.709C>T (p.Arg237Cys)

SNV
Germline

Chr1:9982570

Pathogenic/Likely pathogenic

Leber congenital amaurosis 9
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA579315

rs_375110174

4 SubmittersRCV001048869 RCV001073738

NM_001378454.1(ALMS1):c.3051G>A (p.Trp1017Ter)

SNV
Germline

Chr2:73449578

Pathogenic

Alstrom syndrome
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA347273601

rs_1671883598

2 SubmittersRCV001056417 RCV005418974

NM_003322.6(TULP1):c.1199G>A (p.Arg400Gln)

SNV
Germline

Chr6:35503762

Pathogenic/Likely pathogenic

Condition: not provided
Leber congenital amaurosis 15
Leber congenital amaurosis
Leber congenital amaurosis 15
Retinitis pigmentosa 14
Retinitis pigmentosa 14

Criteria Provided
Multiple Submitters
No Conflicts

CA3772630

rs_748972748

7 SubmittersRCV001057548 RCV001255927 RCV004587030 RCV005047261 RCV005235512

NM_001122769.3(LCA5):c.142A>T (p.Arg48Ter)

SNV
Germline

Chr6:79518753

Pathogenic

Condition: not provided
Leber congenital amaurosis 5

Criteria Provided
Multiple Submitters
No Conflicts

CA364631515

rs_1766524422

2 SubmittersRCV001045145 RCV003467738

NM_001122769.3(LCA5):c.103C>T (p.Arg35Ter)

SNV
Germline

Chr6:79518792

Pathogenic/Likely pathogenic

Condition: not provided
Leber congenital amaurosis 5
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA3901212

rs_748370008

7 SubmittersRCV001046883 RCV001257103 RCV004813601

NM_001001557.4(GDF6):c.815C>T (p.Pro272Leu)

SNV
Germline

Chr8:96145116

Conflicting classifications of pathogenicity

Klippel-Feil syndrome 1, autosomal dominant
Leber congenital amaurosis 17
Microphthalmia, isolated, with coloboma 6
Isolated microphthalmia 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4815405

rs_561421783

2 SubmittersRCV001038235 RCV003307813

NM_001001557.4(GDF6):c.322G>A (p.Ala108Thr)

SNV
Germline

Chr8:96160371

Conflicting classifications of pathogenicity

Klippel-Feil syndrome 1, autosomal dominant
Microphthalmia, isolated, with coloboma 6
Isolated microphthalmia 4
Leber congenital amaurosis 17
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4815501

rs_368498747

3 SubmittersRCV001070415 RCV004693583 RCV004030747

NM_025114.4(CEP290):c.6836T>A (p.Leu2279Ter)

SNV
Germline

Chr12:88055700

Pathogenic/Likely pathogenic

Retinal dystrophy
Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Senior-Loken syndrome 6
Joubert syndrome 5
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4

Criteria Provided
Multiple Submitters
No Conflicts

CA385976661

rs_2033943937

3 SubmittersRCV001074527 RCV001063917 RCV005012517

NM_025114.4(CEP290):c.2306T>C (p.Ile769Thr)

SNV
Germline

Chr12:88111263

Conflicting classifications of pathogenicity

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Meckel syndrome, type 4
Condition: not provided
Leber congenital amaurosis 10
Joubert syndrome 5
Leber congenital amaurosis
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA6712356

rs_199583200

5 SubmittersRCV001057249 RCV001111727 RCV001111724 RCV001111726 RCV001562596 RCV001111723 RCV001111725 RCV001832517 RCV004536115

NM_025114.4(CEP290):c.1627G>T (p.Glu543Ter)

SNV
Germline

Chr12:88118567

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Leber congenital amaurosis
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA385979035

rs_1186821575

3 SubmittersRCV001047416 RCV001832446 RCV003467750

NM_025114.4(CEP290):c.367C>T (p.Gln123Ter)

SNV
Germline

Chr12:88136717

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Leber congenital amaurosis
Senior-Loken syndrome 6
Joubert syndrome 5
Leber congenital amaurosis 10
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
CEP290-related disorder
Bardet-Biedl syndrome 14
Joubert syndrome 5
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA6712821

rs_770126103

7 SubmittersRCV001058714 RCV001832529 RCV002497434 RCV003228800 RCV003462577 RCV005253701 RCV005532835

NM_020366.4(RPGRIP1):c.1892A>G (p.His631Arg)

SNV
Germline

Chr14:21324747

Pathogenic/Likely pathogenic

Leber congenital amaurosis 6
Cone-rod dystrophy 13
Retinal dystrophy
Leber congenital amaurosis 6
Cone-rod dystrophy 13

Criteria Provided
Multiple Submitters
No Conflicts

CA7089115

rs_535922252

4 SubmittersRCV001034879 RCV001074229 RCV001800938 RCV001800939

NM_152443.3(RDH12):c.139G>A (p.Ala47Thr)

SNV
Germline

Chr14:67724543

Pathogenic/Likely pathogenic

Leber congenital amaurosis 13
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA7238610

rs_761231974

7 SubmittersRCV001057696 RCV001420746

NM_152443.3(RDH12):c.316C>T (p.Arg106Ter)

SNV
Germline

Chr14:67725227

Pathogenic

Leber congenital amaurosis 13
Condition: not provided
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA7238666

rs_752242512

6 SubmittersRCV001036749 RCV001091053 RCV001827217

NM_152443.3(RDH12):c.437T>A (p.Val146Asp)

SNV
Germline

Chr14:67726144

Pathogenic

Leber congenital amaurosis 13
Leber congenital amaurosis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA262808941

rs_116649873

5 SubmittersRCV001043608 RCV001277203 RCV005432544

NM_152443.3(RDH12):c.912G>A (p.Trp304Ter)

SNV
Germline

Chr14:67733809

Likely pathogenic

Leber congenital amaurosis 13
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA390154237

rs_2038317129

3 SubmittersRCV001041857 RCV001277209

NM_018418.5(SPATA7):c.3G>A (p.Met1Ile)

SNV
Germline

Chr14:88385821

Conflicting classifications of pathogenicity

Leber congenital amaurosis 3
Condition: not provided
Leber congenital amaurosis

Criteria Provided
Conflicting Classifications

CA7298306

rs_200244203

5 SubmittersRCV001047946 RCV001291572 RCV003117722

NM_018418.5(SPATA7):c.1195C>T (p.Gln399Ter)

SNV
Germline

Chr14:88437577

Pathogenic

Leber congenital amaurosis 3

Criteria Provided
Single Submitter

CA390570654

rs_2077123571

1 SubmittersRCV001059869

NM_014336.5(AIPL1):c.547G>T (p.Gly183Ter)

SNV
Germline

Chr17:6426976

Pathogenic

Leber congenital amaurosis 4

Criteria Provided
Single Submitter

CA397395526

rs_374255033

1 SubmittersRCV001052372

NM_000180.4(GUCY2D):c.1147C>T (p.Arg383Trp)

SNV
Germline

Chr17:8006483

Conflicting classifications of pathogenicity

Cone-rod dystrophy 6
Leber congenital amaurosis 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8365665

rs_545271894

2 SubmittersRCV001040345 RCV004031136

NM_000180.4(GUCY2D):c.1573C>T (p.Gln525Ter)

SNV
Germline

Chr17:8007937

Pathogenic

Leber congenital amaurosis 1
Cone-rod dystrophy 6

Criteria Provided
Single Submitter

CA397949549

rs_1168076308

1 SubmittersRCV001068217

NM_000180.4(GUCY2D):c.2281C>T (p.Arg761Trp)

SNV
Germline

Chr17:8013897

Conflicting classifications of pathogenicity

Leber congenital amaurosis 1
Cone-rod dystrophy 6
Night blindness, congenital stationary, type1i
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA8366077

rs_200637525

3 SubmittersRCV001059685 RCV002290577 RCV004813659

NM_000180.4(GUCY2D):c.2988C>G (p.Tyr996Ter)

SNV
Germline

Chr17:8015786

Pathogenic

Leber congenital amaurosis 1
Cone-rod dystrophy 6

Criteria Provided
Single Submitter

CA397955241

rs_1975957350

1 SubmittersRCV001056225

NM_000180.4(GUCY2D):c.3065T>A (p.Leu1022Ter)

SNV
Germline

Chr17:8015948

Pathogenic

Leber congenital amaurosis 1
Cone-rod dystrophy 6

Criteria Provided
Single Submitter

CA287534419

rs_866511152

1 SubmittersRCV001071718

NM_000554.6(CRX):c.118C>T (p.Arg40Trp)

SNV
Germline

Chr19:47836260

Pathogenic/Likely pathogenic

Retinal dystrophy
Leber congenital amaurosis 7
Cone-rod dystrophy 2
Cone-rod dystrophy 2
Condition: not provided
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA9544401

rs_749738655

7 SubmittersRCV001075179 RCV001071559 RCV001352999 RCV003318660 RCV005418984

NM_000554.6(CRX):c.766C>T (p.Gln256Ter)

SNV
Germline

Chr19:47839833

Pathogenic/Likely pathogenic

Leber congenital amaurosis 7
Cone-rod dystrophy 2
Cone-rod dystrophy 2

Criteria Provided
Multiple Submitters
No Conflicts

CA406631742

rs_1968173024

2 SubmittersRCV001067544 RCV002249668

NM_201253.3(CRB1):c.70+2T>A

SNV
Germline

Chr1:197268484

Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344082568

rs_1654723466

1 SubmittersRCV001045412

NM_201253.3(CRB1):c.4006-10A>G

SNV
Germline

Chr1:197477654

Conflicting classifications of pathogenicity

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Retinal dystrophy
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Conflicting Classifications

CA1312529

rs_766850702

9 SubmittersRCV001056224 RCV001376226 RCV001074118 RCV001197156 RCV003473660 RCV005012500

NM_152443.3(RDH12):c.448+1G>C

SNV
Germline

Chr14:67726156

Pathogenic

Leber congenital amaurosis 13

Criteria Provided
Multiple Submitters
No Conflicts

CA7238705

rs_781331005

2 SubmittersRCV001043928

NM_020366.4(RPGRIP1):c.2367+1G>A

SNV
Germline

Chr14:21325384

Pathogenic

Leber congenital amaurosis 6
Cone-rod dystrophy 13
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA388868708

rs_1882968821

2 SubmittersRCV001054263 RCV004726837

NM_000554.6(CRX):c.101-1G>T

SNV
Germline

Chr19:47836242

Pathogenic

Cone-rod dystrophy 2
Leber congenital amaurosis 7

Criteria Provided
Single Submitter

CA406629353

rs_1968115710

1 SubmittersRCV001063855

NM_025114.4(CEP290):c.1624-5T>G

SNV
Germline

Chr12:88118575

Conflicting classifications of pathogenicity

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Leber congenital amaurosis
Senior-Loken syndrome 6
Joubert syndrome 5
Leber congenital amaurosis 10
Meckel syndrome, type 4

Criteria Provided
Conflicting Classifications

CA6712506

rs_142742071

3 SubmittersRCV001064972 RCV001827420 RCV002468139

NM_025114.4(CEP290):c.1189+1G>A

SNV
Germline

Chr12:88125245

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Leber congenital amaurosis
Bardet-Biedl syndrome 14
Joubert syndrome 5
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA385981026

rs_2039659434

4 SubmittersRCV001063723 RCV001274129 RCV003467821 RCV001814265

NM_201253.3(CRB1):c.547T>C (p.Cys183Arg)

SNV
Germline

Chr1:197328898

Conflicting classifications of pathogenicity

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA344081524

rs_1658691162

3 SubmittersRCV001353026 RCV001862532 RCV001074004

NM_201253.3(CRB1):c.1046A>T (p.Gln349Leu)

SNV
Germline

Chr1:197356888

Conflicting classifications of pathogenicity

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinal dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1311789

rs_148551147

3 SubmittersRCV002069579 RCV001074490 RCV005318611

NM_201253.3(CRB1):c.1125C>G (p.Tyr375Ter)

SNV
Germline

Chr1:197356967

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinal dystrophy
Pigmented paravenous retinochoroidal atrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA344084582

rs_1660515780

4 SubmittersRCV003455393 RCV003455394 RCV002554741 RCV001075076 RCV003455395

NM_201253.3(CRB1):c.1348T>C (p.Cys450Arg)

SNV
Germline

Chr1:197421176

Likely pathogenic

Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Retinal dystrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Multiple Submitters
No Conflicts

CA344030488

rs_1664290387

3 SubmittersRCV003455314 RCV003455315 RCV001073402 RCV002554660 RCV003455313

NM_201253.3(CRB1):c.1429G>A (p.Gly477Arg)

SNV
Germline

Chr1:197421257

Pathogenic/Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Autosomal recessive retinitis pigmentosa
Retinal dystrophy
Retinitis pigmentosa
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA35893461

rs_866822473

8 SubmittersRCV001205896 RCV001257860 RCV001075147 RCV001724243 RCV003455399 RCV003455400 RCV003455401

NM_201253.3(CRB1):c.1436T>C (p.Leu479Pro)

SNV
Germline

Chr1:197421264

Pathogenic/Likely pathogenic

Retinal dystrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA35893495

rs_963201816

3 SubmittersRCV001075152 RCV003455403 RCV002557921 RCV003455402 RCV003455404

NM_201253.3(CRB1):c.2416G>T (p.Glu806Ter)

SNV
Germline

Chr1:197427741

Pathogenic

Retinal dystrophy
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA344037234

rs_766411096

2 SubmittersRCV001074301 RCV003473703

NM_201253.3(CRB1):c.2497G>C (p.Gly833Arg)

SNV
Germline

Chr1:197427822

Pathogenic/Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinal dystrophy
Pigmented paravenous retinochoroidal atrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA344037792

rs_1664671663

3 SubmittersRCV002554698 RCV003455343 RCV003455344 RCV001074122 RCV003455345

NM_201253.3(CRB1):c.3451G>T (p.Gly1151Ter)

SNV
Germline

Chr1:197435314

Pathogenic/Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Retinal dystrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA344048009

rs_1558138741

3 SubmittersRCV003455380 RCV003455381 RCV003455382 RCV001074865 RCV001862578

NM_201253.3(CRB1):c.3653G>T (p.Cys1218Phe)

SNV
Germline

Chr1:197435516

Pathogenic/Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA344050252

rs_1450635782

3 SubmittersRCV001862600 RCV003455406 RCV003455407 RCV003455405 RCV001075199

NM_201253.3(CRB1):c.3991C>T (p.Arg1331Cys)

SNV
Germline

Chr1:197442278

Pathogenic/Likely pathogenic

Retinal dystrophy
Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA1312457

rs_760544654

7 SubmittersRCV001073526 RCV001092289 RCV001696228 RCV001378742 RCV003455324 RCV003455325 RCV005012536 RCV003455326

NM_000329.3(RPE65):c.1040G>A (p.Arg347His)

SNV
Germline

Chr1:68438275

Likely pathogenic

Retinal dystrophy
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA902309

rs_562037932

4 SubmittersRCV001073373 RCV002554658 RCV003469271 RCV004801928

NM_000329.3(RPE65):c.302C>T (p.Thr101Ile)

SNV
Germline

Chr1:68444827

Likely pathogenic

Retinal dystrophy
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2
RPE65-related recessive retinopathy
Leber congenital amaurosis

Reviewed By Expert Panel

CA340748300

rs_1444234037

5 SubmittersRCV001073555 RCV001089888 RCV002554669 RCV004801929 RCV005408682

NM_022787.4(NMNAT1):c.293T>G (p.Val98Gly)

SNV
Germline

Chr1:9975769

Pathogenic/Likely pathogenic

Retinal dystrophy
Leber congenital amaurosis 9
Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA579191

rs_771336246

5 SubmittersRCV001074108 RCV001256659 RCV002221606 RCV001551709

NM_003322.6(TULP1):c.1318C>T (p.Arg440Ter)

SNV
Germline

Chr6:35503564

Pathogenic/Likely pathogenic

Condition: not provided
Leber congenital amaurosis 15
Retinal dystrophy
Retinitis pigmentosa 14
Leber congenital amaurosis 15
Retinitis pigmentosa 14

Criteria Provided
Multiple Submitters
No Conflicts

CA3772599

rs_751589956

6 SubmittersRCV001386010 RCV001255932 RCV001075390 RCV005036390 RCV005253713

NM_003322.6(TULP1):c.100C>T (p.Arg34Ter)

SNV
Germline

Chr6:35512270

Pathogenic/Likely pathogenic

Retinal dystrophy
Leber congenital amaurosis 15
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA363785173

rs_1331834680

3 SubmittersRCV001075606 RCV001255923 RCV001862625

NM_025114.4(CEP290):c.2414T>C (p.Leu805Pro)

SNV
Germline

Chr12:88109135

Pathogenic/Likely pathogenic

Retinal dystrophy
Nephronophthisis
Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 4
Leber congenital amaurosis
Bardet-Biedl syndrome 14
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA6712335

rs_762633090

6 SubmittersRCV001075311 RCV001243657 RCV003331040 RCV001836118 RCV003469278 RCV005540273

NM_152443.3(RDH12):c.284G>A (p.Arg95Gln)

SNV
Germline

Chr14:67725195

Conflicting classifications of pathogenicity

Retinal dystrophy
Leber congenital amaurosis 13
Leber congenital amaurosis
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA7238661

rs_765914942

5 SubmittersRCV001075651 RCV001243650 RCV001833694 RCV003117741 RCV002222667

NM_152443.3(RDH12):c.446T>C (p.Leu149Pro)

SNV
Germline

Chr14:67726153

Pathogenic/Likely pathogenic

Retinal dystrophy
Leber congenital amaurosis 13
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA7238701

rs_747257567

5 SubmittersRCV001074758 RCV001225544 RCV002282454

NM_152443.3(RDH12):c.505C>T (p.Arg169Trp)

SNV
Germline

Chr14:67727037

Pathogenic/Likely pathogenic

Retinal dystrophy
Leber congenital amaurosis 13
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA390150768

rs_761167763

5 SubmittersRCV001075351 RCV001212314 RCV003324554

NM_152443.3(RDH12):c.599A>G (p.Tyr200Cys)

SNV
Germline

Chr14:67727131

Pathogenic/Likely pathogenic

Leber congenital amaurosis 13
Retinal dystrophy
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA390151429

rs_1163040913

3 SubmittersRCV001255716 RCV001075659 RCV005418990

NM_152443.3(RDH12):c.601T>C (p.Cys201Arg)

SNV
Germline

Chr14:67727133

Pathogenic/Likely pathogenic

Retinal dystrophy
Leber congenital amaurosis 13

Criteria Provided
Multiple Submitters
No Conflicts

CA390151439

rs_2038196341

2 SubmittersRCV001073785 RCV001387133

NM_152443.3(RDH12):c.671C>T (p.Thr224Ile)

SNV
Germline

Chr14:67729203

Conflicting classifications of pathogenicity

Retinal dystrophy
Leber congenital amaurosis 13
not specified

Criteria Provided
Conflicting Classifications

CA7238791

rs_200302290

4 SubmittersRCV001075534 RCV001862618 RCV004702631

NM_152443.3(RDH12):c.697G>C (p.Val233Leu)

SNV
Germline

Chr14:67729229

Pathogenic/Likely pathogenic

Retinal dystrophy
Leber congenital amaurosis 13

Criteria Provided
Multiple Submitters
No Conflicts

CA7238794

rs_140257538

6 SubmittersRCV001075033 RCV001383004

NM_152443.3(RDH12):c.715C>T (p.Arg239Trp)

SNV
Germline

Chr14:67729247

Pathogenic/Likely pathogenic

Retinal dystrophy
Leber congenital amaurosis 13

Criteria Provided
Multiple Submitters
No Conflicts

CA7238802

rs_751589863

3 SubmittersRCV001073667 RCV002557895

NM_014336.5(AIPL1):c.190G>A (p.Gly64Arg)

SNV
Germline

Chr17:6434005

Conflicting classifications of pathogenicity

Retinal dystrophy
Leber congenital amaurosis 4

Criteria Provided
Conflicting Classifications

CA8328596

rs_776024427

3 SubmittersRCV001075646 RCV001376195

NM_000180.4(GUCY2D):c.343T>C (p.Ser115Pro)

SNV
Germline

Chr17:8003390

Conflicting classifications of pathogenicity

Retinal dystrophy
Cone-rod dystrophy 6
Leber congenital amaurosis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8365493

rs_562248093

3 SubmittersRCV001073713 RCV001462580 RCV004809016

NM_000180.4(GUCY2D):c.964C>T (p.Leu322=)

SNV
Germline

Chr17:8004094

Conflicting classifications of pathogenicity

Retinal dystrophy
Cone-rod dystrophy 6
Leber congenital amaurosis 1

Criteria Provided
Conflicting Classifications

CA8365606

rs_563208176

2 SubmittersRCV001073761 RCV003768992

NM_000180.4(GUCY2D):c.2182G>A (p.Asp728Asn)

SNV
Germline

Chr17:8013171

Likely pathogenic

Retinal dystrophy
Leber congenital amaurosis 1
Cone-rod dystrophy 6
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA8366038

rs_766646217

3 SubmittersRCV001074405 RCV001862558 RCV005432572

NM_000180.4(GUCY2D):c.2280G>A (p.Val760=)

SNV
Germline

Chr17:8013896

Conflicting classifications of pathogenicity

Retinal dystrophy
Leber congenital amaurosis 1
Cone-rod dystrophy 6

Criteria Provided
Conflicting Classifications

CA497752010

rs_898895746

2 SubmittersRCV001074013 RCV005209532

NM_000180.4(GUCY2D):c.2457G>C (p.Ser819=)

SNV
Germline

Chr17:8014645

Conflicting classifications of pathogenicity

Retinal dystrophy
Leber congenital amaurosis 1
Cone-rod dystrophy 6

Criteria Provided
Conflicting Classifications

CA497752948

rs_149866657

2 SubmittersRCV001074481 RCV003768996

NM_000180.4(GUCY2D):c.2492T>C (p.Leu831Pro)

SNV
Germline

Chr17:8014680

Conflicting classifications of pathogenicity

Retinal dystrophy
Cone-rod dystrophy 6
Leber congenital amaurosis 1
Cataract

Criteria Provided
Conflicting Classifications

CA397953560

rs_1975925973

4 SubmittersRCV001074379 RCV001862557 RCV005626326

NM_000180.4(GUCY2D):c.2707G>T (p.Asp903Tyr)

SNV
Germline

Chr17:8014989

Conflicting classifications of pathogenicity

Retinal dystrophy
Leber congenital amaurosis 1
Cone-rod dystrophy 6

Criteria Provided
Conflicting Classifications

CA397954146

rs_1975936032

2 SubmittersRCV001073425 RCV001862804

NM_000180.4(GUCY2D):c.3025A>C (p.Met1009Leu)

SNV
Germline

Chr17:8015823

Pathogenic/Likely pathogenic

Retinal dystrophy
Condition: not provided
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA287534181

rs_61750188

3 SubmittersRCV001075091 RCV003156316 RCV005236589

NM_000180.4(GUCY2D):c.3271C>T (p.Arg1091Ter)

SNV
Germline

Chr17:8016489

Pathogenic

Cone-rod dystrophy 6
Leber congenital amaurosis 1
Retinal dystrophy
GUCY2D-related recessive retinopathy

Reviewed By Expert Panel

CA8366374

rs_769818541

3 SubmittersRCV001388270 RCV001073763 RCV005053966

NM_201253.3(CRB1):c.653-1G>T

SNV
Germline

Chr1:197344280

Pathogenic/Likely pathogenic

Retinitis pigmentosa 12
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Retinal dystrophy
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA1311685

rs_760287363

5 SubmittersRCV001593255 RCV001862575 RCV003446611 RCV001074781 RCV003446610

NM_000329.3(RPE65):c.1380G>A (p.Trp460Ter)

SNV
Germline

Chr1:68431135

Pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Condition: not provided
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA340742114

rs_1645823028

4 SubmittersRCV001201914 RCV001089890 RCV002511032 RCV003769013

NM_000329.3(RPE65):c.1328T>C (p.Val443Ala)

SNV
Germline

Chr1:68431292

Likely pathogenic

Retinitis pigmentosa
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA340742376

rs_1645824187

4 SubmittersRCV001102321 RCV001862663 RCV001089891 RCV003769014

NM_000329.3(RPE65):c.484A>C (p.Thr162Pro)

SNV
Germline

Chr1:68444542

Likely pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
RPE65-related recessive retinopathy
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Retinitis pigmentosa 87 with choroidal involvement
Leber congenital amaurosis 2

Reviewed By Expert Panel

CA902499

rs_774309607

4 SubmittersRCV001206190 RCV004801930 RCV005036393 RCV001089896

NM_000329.3(RPE65):c.354G>T (p.Arg118Ser)

SNV
Germline

Chr1:68444672

Pathogenic

Leber congenital amaurosis 2
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA340748033

rs_1015895028

2 SubmittersRCV001089893 RCV004595861

NM_201253.3(CRB1):c.407G>A (p.Cys136Tyr)

SNV
Germline

Chr1:197328758

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 8
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Conflicting Classifications

CA1311629

rs_752559648

4 SubmittersRCV001091027 RCV003473709 RCV005225224

NM_201253.3(CRB1):c.2171A>G (p.Tyr724Cys)

SNV
Germline

Chr1:197427496

Pathogenic/Likely pathogenic

Condition: not provided
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Retinitis pigmentosa 12
Leber congenital amaurosis 8
CRB1-related disorder
Retinal dystrophy
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Multiple Submitters
No Conflicts

CA1312065

rs_765676754

7 SubmittersRCV001092287 RCV001380407 RCV003455432 RCV003455433 RCV004740562 RCV004813747 RCV005012548

NM_022787.4(NMNAT1):c.199G>T (p.Val67Phe)

SNV
Germline

Chr1:9975675

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 9

Criteria Provided
Conflicting Classifications

CA579181

rs_756903689

2 SubmittersRCV001090801 RCV001862682

NM_022787.4(NMNAT1):c.634G>A (p.Val212Met)

SNV
Germline

Chr1:9982495

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 9
Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis
Leber congenital amaurosis 9

Criteria Provided
Conflicting Classifications

CA579297

rs_201994921

7 SubmittersRCV001090804 RCV001376488 RCV005394733

NM_003322.6(TULP1):c.629C>G (p.Ser210Ter)

SNV
Germline

Chr6:35509723

Pathogenic

Condition: not provided
Retinitis pigmentosa 14
Leber congenital amaurosis 15
Retinitis pigmentosa 14

Criteria Provided
Multiple Submitters
No Conflicts

CA363782678

rs_1761158425

4 SubmittersRCV001093079 RCV005432575 RCV005036403

NM_025114.4(CEP290):c.6797G>A (p.Trp2266Ter)

SNV
Germline

Chr12:88058869

Pathogenic/Likely pathogenic

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Joubert syndrome 5
Leber congenital amaurosis 10
Meckel syndrome, type 4
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA385977236

rs_2034232539

4 SubmittersRCV001090821 RCV003769016 RCV003469280 RCV005012543

NM_025114.4(CEP290):c.6031C>T (p.Arg2011Ter)

SNV
Germline

Chr12:88068626

Pathogenic

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Joubert syndrome 5
Leber congenital amaurosis 10
Meckel syndrome, type 4
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA241149784

rs_750073051

4 SubmittersRCV001090822 RCV002554821 RCV003469281 RCV005012544

NM_025114.4(CEP290):c.2T>A (p.Met1Lys)

SNV
Germline

Chr12:88141306

Pathogenic/Likely pathogenic

Condition: not provided
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6
Joubert syndrome 5
Nephronophthisis
Joubert syndrome
Meckel-Gruber syndrome
CEP290-related disorder
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA6712933

rs_368984997

6 SubmittersRCV001091344 RCV002482162 RCV001862693 RCV004536141 RCV004813738

NM_014336.5(AIPL1):c.364G>C (p.Gly122Arg)

SNV
Germline

Chr17:6428419

Pathogenic/Likely pathogenic

Condition: not provided
Leber congenital amaurosis
Leber congenital amaurosis 4
Retinitis pigmentosa
Leber congenital amaurosis 4

Criteria Provided
Multiple Submitters
No Conflicts

CA8328532

rs_201883601

8 SubmittersRCV001090635 RCV002222668 RCV001172396 RCV002489728

NM_000554.6(CRX):c.206G>A (p.Arg69His)

SNV
Germline

Chr19:47836348

Pathogenic/Likely pathogenic

Condition: not provided
Cone-rod dystrophy 2
Leber congenital amaurosis 7
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA9544419

rs_775073228

3 SubmittersRCV001093247 RCV001238013 RCV004813758

NM_201253.3(CRB1):c.265C>T (p.Pro89Ser)

SNV
Germline

Chr1:197328616

Conflicting classifications of pathogenicity

Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa
Leber congenital amaurosis 8
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1311602

rs_145525029

3 SubmittersRCV001100911 RCV001100913 RCV001100912 RCV002554969 RCV003160630

NM_201253.3(CRB1):c.867G>A (p.Thr289=)

SNV
Germline

Chr1:197347358

Conflicting classifications of pathogenicity

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Retinitis pigmentosa
Leber congenital amaurosis
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA1311749

rs_147244321

4 SubmittersRCV001317879 RCV001100737 RCV001833700 RCV001100736 RCV001100738 RCV003890246

NM_201253.3(CRB1):c.1878T>C (p.Ala626=)

SNV
Germline

Chr1:197421706

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Conflicting Classifications

CA422808588

rs_1413323140

2 SubmittersRCV001100836 RCV001101090 RCV001101091 RCV001443187

NM_201253.3(CRB1):c.2056C>T (p.Arg686Cys)

SNV
Germline

Chr1:197421884

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Condition: not provided
Leber congenital amaurosis
Retinitis pigmentosa 12

Criteria Provided
Conflicting Classifications

CA344033795

rs_1204363918

7 SubmittersRCV001097349 RCV001097350 RCV001097351 RCV001234545 RCV001700696 RCV001828549 RCV003455452

NM_001164688.2(RD3):c.150G>A (p.Ala50=)

SNV
Germline

Chr1:211481266

Conflicting classifications of pathogenicity

Leber congenital amaurosis 12

Criteria Provided
Conflicting Classifications

CA1381142

rs_751609154

2 SubmittersRCV001097936

NM_000329.3(RPE65):c.807T>C (p.Ser269=)

SNV
Germline

Chr1:68439242

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Conflicting Classifications

CA902391

rs_774896870

2 SubmittersRCV001098757 RCV001098758 RCV001405985

NM_000329.3(RPE65):c.576T>A (p.Ile192=)

SNV
Germline

Chr1:68440920

Conflicting classifications of pathogenicity

Leber congenital amaurosis 2
Retinitis pigmentosa
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA23572062

rs_747122876

3 SubmittersRCV001100590 RCV001100591 RCV003769066 RCV005243469

NM_000329.3(RPE65):c.366C>T (p.Tyr122=)

SNV
Germline

Chr1:68444660

Conflicting classifications of pathogenicity

Leber congenital amaurosis 2
Retinitis pigmentosa
Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Conflicting Classifications

CA418282754

rs_1479443954

2 SubmittersRCV001097117 RCV001097118 RCV001444955

NM_025114.4(CEP290):c.5814T>C (p.Thr1938=)

SNV
Germline

Chr12:88071822

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Joubert syndrome 5
Leber congenital amaurosis 10
Meckel syndrome, type 4
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA6711638

rs_752046733

2 SubmittersRCV001112803 RCV001112805 RCV001112806 RCV001112807 RCV001112804 RCV001462557

NM_025114.4(CEP290):c.5607T>C (p.Asn1869=)

SNV
Germline

Chr12:88077324

Conflicting classifications of pathogenicity

Senior-Loken syndrome 6
Leber congenital amaurosis 10
Bardet-Biedl syndrome 14
Joubert syndrome 5
Meckel syndrome, type 4
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA241153115

rs_777353443

2 SubmittersRCV001110127 RCV001110129 RCV001110125 RCV001110126 RCV001110128 RCV002067798

NM_025114.4(CEP290):c.3717G>A (p.Glu1239=)

SNV
Germline

Chr12:88089344

Conflicting classifications of pathogenicity

Meckel syndrome, type 4
Joubert syndrome 5
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Conflicting Classifications

CA481077013

rs_1159465602

2 SubmittersRCV001113346 RCV001114718 RCV001113347 RCV001114719 RCV001114717 RCV001400067

NM_025114.4(CEP290):c.671C>T (p.Thr224Ile)

SNV
Germline

Chr12:88129875

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Joubert syndrome 5
Meckel syndrome, type 4
Senior-Loken syndrome 6
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Leber congenital amaurosis
Senior-Loken syndrome 6
Joubert syndrome 5
Leber congenital amaurosis 10
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
CEP290-related disorder
Senior-Loken syndrome 6
Joubert syndrome 5
Leber congenital amaurosis 10
Meckel syndrome, type 4

Criteria Provided
Conflicting Classifications

CA6712702

rs_200587974

6 SubmittersRCV001109863 RCV001109864 RCV001109865 RCV001113893 RCV001109862 RCV001244757 RCV001279936 RCV002497520 RCV004538332 RCV003227912

NM_025114.4(CEP290):c.54G>C (p.Leu18=)

SNV
Germline

Chr12:88141254

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Joubert syndrome 5
Meckel syndrome, type 4
Leber congenital amaurosis 10
Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome
Leber congenital amaurosis

Criteria Provided
Conflicting Classifications

CA481055452

rs_886049885

3 SubmittersRCV001110742 RCV001110743 RCV001110744 RCV001110745 RCV001112728 RCV001502187 RCV005606766

NM_020366.4(RPGRIP1):c.846C>T (p.Leu282=)

SNV
Germline

Chr14:21307776

Conflicting classifications of pathogenicity

Leber congenital amaurosis 6
Cone-rod dystrophy 13
Cone-rod dystrophy 13
Leber congenital amaurosis 6

Criteria Provided
Conflicting Classifications

CA7088767

rs_201186199

2 SubmittersRCV001111080 RCV001111079 RCV002069792

NM_020366.4(RPGRIP1):c.1506C>A (p.Ser502=)

SNV
Germline

Chr14:21321297

Conflicting classifications of pathogenicity

Cone-rod dystrophy 13
Leber congenital amaurosis 6
Cone-rod dystrophy 13
Leber congenital amaurosis 6

Criteria Provided
Conflicting Classifications

CA484993639

rs_777877901

2 SubmittersRCV001110422 RCV001110421 RCV005225234

NM_020366.4(RPGRIP1):c.3571C>T (p.Arg1191Trp)

SNV
Germline

Chr14:21345151

Conflicting classifications of pathogenicity

Leber congenital amaurosis 6
Cone-rod dystrophy 13
Cone-rod dystrophy 13
Leber congenital amaurosis 6
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7089555

rs_188660364

4 SubmittersRCV001113378 RCV001113379 RCV001488401 RCV005268912

NM_020366.4(RPGRIP1):c.2710+11G>A

SNV
Germline

Chr14:21326184

Conflicting classifications of pathogenicity

Leber congenital amaurosis 6
Cone-rod dystrophy 13
Leber congenital amaurosis 6
Cone-rod dystrophy 13

Criteria Provided
Conflicting Classifications

CA7089322

rs_368181053

2 SubmittersRCV001113278 RCV001113277 RCV002069828

NM_020366.4(RPGRIP1):c.3239-14C>T

SNV
Germline

Chr14:21334591

Conflicting classifications of pathogenicity

Cone-rod dystrophy 13
Leber congenital amaurosis 6
Cone-rod dystrophy 13
Leber congenital amaurosis 6

Criteria Provided
Conflicting Classifications

CA7089465

rs_542859849

3 SubmittersRCV001109018 RCV001111365 RCV001523738

NM_018418.5(SPATA7):c.-95C>T

SNV
Germline

Chr14:88385724

Conflicting classifications of pathogenicity

Leber congenital amaurosis 3
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA264502513

rs_114796215

1 SubmittersRCV001115839 RCV001115840

NM_018418.5(SPATA7):c.937G>A (p.Ala313Thr)

SNV
Germline

Chr14:88429372

Conflicting classifications of pathogenicity

Leber congenital amaurosis 3
Retinitis pigmentosa
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7298655

rs_143812944

4 SubmittersRCV001119004 RCV001120975 RCV002558177 RCV004693732

NM_018418.5(SPATA7):c.1476C>A (p.Phe492Leu)

SNV
Germline

Chr14:88438098

Conflicting classifications of pathogenicity

Leber congenital amaurosis 3
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA7298818

rs_750676893

3 SubmittersRCV001119099 RCV001119100 RCV003890266

NM_014336.5(AIPL1):c.970C>A (p.Arg324=)

SNV
Germline

Chr17:6425645

Conflicting classifications of pathogenicity

Leber congenital amaurosis 4
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA8328339

rs_375096209

2 SubmittersRCV001124294 RCV001124293

NM_014336.5(AIPL1):c.939G>A (p.Ala313=)

SNV
Germline

Chr17:6425676

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Leber congenital amaurosis 4

Criteria Provided
Conflicting Classifications

CA287323813

rs_200401166

2 SubmittersRCV001126961 RCV001126960

NM_014336.5(AIPL1):c.900G>C (p.Ala300=)

SNV
Germline

Chr17:6425715

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Leber congenital amaurosis 4

Criteria Provided
Conflicting Classifications

CA8328362

rs_373590751

2 SubmittersRCV001126962 RCV001126963

NM_000554.6(CRX):c.460A>G (p.Thr154Ala)

SNV
Germline

Chr19:47839527

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Cone-rod dystrophy 2
Leber congenital amaurosis 7
Cone-rod dystrophy 2
Leber congenital amaurosis 7
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA9544496

rs_763651232

4 SubmittersRCV001131570 RCV001131571 RCV001132600 RCV002558276 RCV003890279

NM_000554.6(CRX):c.606C>T (p.Cys202=)

SNV
Germline

Chr19:47839673

Conflicting classifications of pathogenicity

Cone-rod dystrophy 2
Retinitis pigmentosa
Leber congenital amaurosis 7
Cone-rod dystrophy 2
Leber congenital amaurosis 7

Criteria Provided
Conflicting Classifications

CA9544530

rs_764877352

2 SubmittersRCV001129005 RCV001129007 RCV001129006 RCV002558263

NM_000554.6(CRX):c.765C>T (p.Gly255=)

SNV
Germline

Chr19:47839832

Conflicting classifications of pathogenicity

Leber congenital amaurosis 7
Cone-rod dystrophy 2
Retinitis pigmentosa
Cone-rod dystrophy 2
Leber congenital amaurosis 7
CRX-related disorder

Criteria Provided
Conflicting Classifications

CA9544567

rs_145913500

3 SubmittersRCV001131694 RCV001131695 RCV001131696 RCV001213963 RCV003945847

NM_000554.6(CRX):c.*16T>C

SNV
Germline

Chr19:47839983

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Leber congenital amaurosis 7
Cone-rod dystrophy 2

Criteria Provided
Conflicting Classifications

CA9544594

rs_371964860

1 SubmittersRCV001132708 RCV001132707 RCV001132709

NM_000554.6(CRX):c.*117T>A

SNV
Germline

Chr19:47840084

Conflicting classifications of pathogenicity

Cone-rod dystrophy 2
Leber congenital amaurosis 7
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA309213375

rs_574641672

1 SubmittersRCV001129135 RCV001129136 RCV001129137

NM_000554.6(CRX):c.*366C>T

SNV
Germline

Chr19:47840333

Conflicting classifications of pathogenicity

Cone-rod dystrophy 2
Leber congenital amaurosis 7
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA309213604

rs_560185740

1 SubmittersRCV001132803 RCV001132804 RCV001136199

NM_000554.6(CRX):c.*1684G>A

SNV
Germline

Chr19:47841651

Conflicting classifications of pathogenicity

Leber congenital amaurosis 7
Cone-rod dystrophy 2
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA309214652

rs_141564522

1 SubmittersRCV001132283 RCV001133217 RCV001132282

NM_000554.6(CRX):c.*2040G>A

SNV
Germline

Chr19:47842007

Conflicting classifications of pathogenicity

Leber congenital amaurosis 7
Cone-rod dystrophy 2
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA309215056

rs_139340702

1 SubmittersRCV001129660 RCV001129661 RCV001129662

NM_002242.4(KCNJ13):c.870G>A (p.Pro290=)

SNV
Germline

Chr2:232768404

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 16

Criteria Provided
Conflicting Classifications

CA2169975

rs_539013622

2 SubmittersRCV002557062 RCV001143770

NM_002242.4(KCNJ13):c.141C>T (p.Ile47=)

SNV
Germline

Chr2:232771222

Conflicting classifications of pathogenicity

Leber congenital amaurosis 16
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2170080

rs_770352640

2 SubmittersRCV001137214 RCV002070602

NM_004744.5(LRAT):c.519G>T (p.Pro173=)

SNV
Germline

Chr4:154744845

Conflicting classifications of pathogenicity

Leber congenital amaurosis 14
Retinitis pigmentosa
Condition: not provided
LRAT-related disorder

Criteria Provided
Conflicting Classifications

CA3115885

rs_375365480

3 SubmittersRCV001148966 RCV001148967 RCV002070807 RCV003938513

NM_003322.6(TULP1):c.1569C>T (p.Cys523=)

SNV
Germline

Chr6:35498387

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Leber congenital amaurosis 15
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3772514

rs_768536269

2 SubmittersRCV001153580 RCV001153581 RCV002070872

NM_003322.6(TULP1):c.1563G>A (p.Pro521=)

SNV
Germline

Chr6:35498393

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Leber congenital amaurosis 15
Condition: not provided

Criteria Provided
Conflicting Classifications

CA137276899

rs_1031077618

2 SubmittersRCV001156196 RCV001156195 RCV001458705

NM_003322.6(TULP1):c.1169G>A (p.Arg390His)

SNV
Germline

Chr6:35503792

Conflicting classifications of pathogenicity

Leber congenital amaurosis 15
Retinitis pigmentosa
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3772633

rs_139402633

3 SubmittersRCV001157866 RCV001157867 RCV001349738 RCV002557350

NM_003322.6(TULP1):c.1152C>T (p.Asn384=)

SNV
Germline

Chr6:35503809

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Leber congenital amaurosis 15
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3772638

rs_371436525

2 SubmittersRCV001157868 RCV001157869 RCV002070946

NM_003322.6(TULP1):c.541G>C (p.Val181Leu)

SNV
Germline

Chr6:35509887

Conflicting classifications of pathogenicity

Leber congenital amaurosis 15
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3772882

rs_576738703

2 SubmittersRCV001152496 RCV001157951 RCV001858997

NM_003322.6(TULP1):c.1112+8T>C

SNV
Germline

Chr6:35505733

Conflicting classifications of pathogenicity

Leber congenital amaurosis 15
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA566703185

rs_1286919081

2 SubmittersRCV001157871 RCV001157870 RCV002559519

NM_001122769.3(LCA5):c.1062C>T (p.Tyr354=)

SNV
Germline

Chr6:79491624

Conflicting classifications of pathogenicity

Leber congenital amaurosis 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3900952

rs_183261547

2 SubmittersRCV001160206 RCV001427371

NM_001122769.3(LCA5):c.108A>G (p.Ser36=)

SNV
Germline

Chr6:79518787

Conflicting classifications of pathogenicity

Leber congenital amaurosis 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA451002625

rs_1196957609

2 SubmittersRCV001163894 RCV002067994

NM_000883.4(IMPDH1):c.*196C>T

SNV
Germline

Chr7:128392811

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Leber congenital amaurosis 11

Criteria Provided
Conflicting Classifications

CA166119637

rs_72624974

1 SubmittersRCV001161183 RCV001161184

NM_000883.4(IMPDH1):c.1280C>T (p.Pro427Leu)

SNV
Germline

Chr7:128395256

Conflicting classifications of pathogenicity

Leber congenital amaurosis 11
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4470872

rs_763999626

2 SubmittersRCV001162848 RCV001162849 RCV001462652

NM_000883.4(IMPDH1):c.1226G>A (p.Gly409Asp)

SNV
Germline

Chr7:128396635

Conflicting classifications of pathogenicity

Leber congenital amaurosis 11
Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 10

Criteria Provided
Conflicting Classifications

CA4470898

rs_375914533

3 SubmittersRCV001162851 RCV001162850 RCV001510613 RCV001593301

NM_000883.4(IMPDH1):c.675T>C (p.Ser225=)

SNV
Germline

Chr7:128400444

Conflicting classifications of pathogenicity

Leber congenital amaurosis 11
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4471082

rs_373353058

2 SubmittersRCV001161421 RCV001161420 RCV002558539

NM_000883.4(IMPDH1):c.561C>T (p.Asn187=)

SNV
Germline

Chr7:128400835

Conflicting classifications of pathogenicity

Leber congenital amaurosis 11
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4471124

rs_1042250

2 SubmittersRCV001162954 RCV001162955 RCV001393541

NM_001122769.3(LCA5):c.859-12G>A

SNV
Germline

Chr6:79492659

Conflicting classifications of pathogenicity

Leber congenital amaurosis 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3900996

rs_115317386

2 SubmittersRCV001163583 RCV002067988

NM_000883.4(IMPDH1):c.255-10C>T

SNV
Germline

Chr7:128405875

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Leber congenital amaurosis 11
Condition: not provided

Criteria Provided
Conflicting Classifications

CA577708691

rs_1478038443

2 SubmittersRCV001165038 RCV001165037 RCV001402946

NM_001001557.4(GDF6):c.18C>T (p.Val6=)

SNV
Germline

Chr8:96160675

Conflicting classifications of pathogenicity

Klippel-Feil syndrome 1, autosomal dominant
Klippel-Feil syndrome 1, autosomal dominant
Isolated microphthalmia 4
Microphthalmia, isolated, with coloboma 6
Leber congenital amaurosis 17

Criteria Provided
Conflicting Classifications

CA4815572

rs_745979763

2 SubmittersRCV001168055 RCV002067827

NM_000180.4(GUCY2D):c.2813C>G (p.Pro938Arg)

SNV
Germline

Chr17:8015371

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 1
Cone-rod dystrophy 6

Criteria Provided
Conflicting Classifications

CA397954414

rs_1975945188

2 SubmittersRCV001171921 RCV002558725

NM_014336.5(AIPL1):c.773G>C (p.Arg258Pro)

SNV
Germline

Chr17:6426626

Pathogenic

Leber congenital amaurosis 4
AIPL1-related disorder

Criteria Provided
Single Submitter

CA8328406

rs_751881283

3 SubmittersRCV001172392 RCV004733170

NM_014336.5(AIPL1):c.665G>A (p.Trp222Ter)

SNV
Germline

Chr17:6426734

Pathogenic

Leber congenital amaurosis 4

No Assertion Criteria Provided

CA397395261

rs_1912011058

1 SubmittersRCV001172398

NM_014336.5(AIPL1):c.582C>G (p.Tyr194Ter)

SNV
Germline

Chr17:6426941

Pathogenic

Leber congenital amaurosis 4

No Assertion Criteria Provided

CA8328461

rs_368845643

1 SubmittersRCV001172389

NM_014336.5(AIPL1):c.421C>T (p.Gln141Ter)

SNV
Germline

Chr17:6428362

Pathogenic

Leber congenital amaurosis 4
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA8328516

rs_200125117

3 SubmittersRCV001172388 RCV003987790

NM_014336.5(AIPL1):c.466-1G>C

SNV
Germline

Chr17:6427058

Likely pathogenic

Leber congenital amaurosis 4

Criteria Provided
Single Submitter

CA397395835

rs_1567637467

2 SubmittersRCV001172397

NM_014336.5(AIPL1):c.96+4A>T

SNV
Germline

Chr17:6435005

Pathogenic

Leber congenital amaurosis 4

No Assertion Criteria Provided

CA8328667

rs_772417830

1 SubmittersRCV001172387

NM_002242.4(KCNJ13):c.431T>C (p.Leu144Pro)

SNV
Germline

Chr2:232770932

Likely pathogenic

Leber congenital amaurosis 16
Retinitis pigmentosa

Criteria Provided
Single Submitter

CA351011908

rs_1361858388

2 SubmittersRCV001269022 RCV004813155

NM_201253.3(CRB1):c.3878G>A (p.Trp1293Ter)

SNV
Germline

Chr1:197438675

Pathogenic/Likely pathogenic

Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA344051056

rs_1665282478

4 SubmittersRCV001198223 RCV001859201 RCV003449635 RCV003449636 RCV005614493

NM_003322.6(TULP1):c.1258C>T (p.Arg420Cys)

SNV
Unknown

Chr6:35503624

Likely pathogenic

Leber congenital amaurosis 15

Criteria Provided
Single Submitter

CA3772610

rs_551519696

1 SubmittersRCV001196225

NM_003322.6(TULP1):c.1025G>A (p.Arg342Gln)

SNV
Germline

Chr6:35505828

Conflicting classifications of pathogenicity

Leber congenital amaurosis 15
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3772704

rs_756856544

2 SubmittersRCV001196226 RCV001360262

NM_003322.6(TULP1):c.139G>T (p.Glu47Ter)

SNV
Unknown

Chr6:35512231

Likely pathogenic

Leber congenital amaurosis 15

Criteria Provided
Single Submitter

CA363785046

rs_1761224205

1 SubmittersRCV001199360

NM_000883.4(IMPDH1):c.942G>T (p.Lys314Asn)

SNV
Germline

Chr7:128398546

Conflicting classifications of pathogenicity

Leber congenital amaurosis 11
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA369169270

rs_1798090540

2 SubmittersRCV001198071 RCV004813845

NM_152443.3(RDH12):c.377C>A (p.Ala126Glu)

SNV
Germline

Chr14:67726084

Pathogenic/Likely pathogenic

Leber congenital amaurosis 13

Criteria Provided
Multiple Submitters
No Conflicts

CA390150075

rs_202126574

3 SubmittersRCV001198281

NM_003322.6(TULP1):c.1112+2T>G

SNV
Unknown

Chr6:35505739

Pathogenic

Leber congenital amaurosis 15

Criteria Provided
Single Submitter

CA363779545

rs_1761066725

1 SubmittersRCV001198770

NM_025114.4(CEP290):c.6012-2A>G

SNV
Germline

Chr12:88068647

Pathogenic

Joubert syndrome 5
Leber congenital amaurosis
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA241149791

rs_555755221

4 SubmittersRCV001198220 RCV001828613 RCV001211579 RCV003469314

NM_018418.5(SPATA7):c.373-15A>G

SNV
Germline

Chr14:88426217

Conflicting classifications of pathogenicity

Leber congenital amaurosis 3

Criteria Provided
Conflicting Classifications

CA7298521

rs_781587897

2 SubmittersRCV001199174

NM_014336.5(AIPL1):c.645G>A (p.Glu215=)

SNV
Germline

Chr17:6426754

Conflicting classifications of pathogenicity

Leber congenital amaurosis
Leber congenital amaurosis 4

Criteria Provided
Conflicting Classifications

CA497687550

rs_1297434866

3 SubmittersRCV005419030 RCV001267879

NM_201253.3(CRB1):c.1096A>C (p.Ile366Leu)

SNV
Germline

Chr1:197356938

Conflicting classifications of pathogenicity

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1311807

rs_763122264

3 SubmittersRCV001214964 RCV001833875 RCV005318653

NM_201253.3(CRB1):c.3936C>G (p.Cys1312Trp)

SNV
Germline

Chr1:197442223

Conflicting classifications of pathogenicity

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8

Criteria Provided
Conflicting Classifications

CA344052568

rs_1665481687

3 SubmittersRCV001217937 RCV003449687 RCV003449688 RCV003449689 RCV002484183

NM_022787.4(NMNAT1):c.532G>A (p.Val178Met)

SNV
Germline

Chr1:9982393

Likely pathogenic

Leber congenital amaurosis 9

Criteria Provided
Single Submitter

CA579275

rs_757724544

2 SubmittersRCV001223249

NM_025114.4(CEP290):c.3811C>T (p.Arg1271Ter)

SNV
Germline

Chr12:88089250

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Condition: not provided
Leber congenital amaurosis
Retinal dystrophy
Meckel syndrome, type 4
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA386000654

rs_1412133967

10 SubmittersRCV001222226 RCV001529282 RCV001828771 RCV004813908 RCV004546619 RCV002283532

NM_201253.3(CRB1):c.379C>T (p.Gln127Ter)

SNV
Germline

Chr1:197328730

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA344085642

rs_1658673791

1 SubmittersRCV001204868

NM_201253.3(CRB1):c.1841G>T (p.Gly614Val)

SNV
Germline

Chr1:197421669

Pathogenic/Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis
Pigmented paravenous retinochoroidal atrophy
Condition: not provided
Leber congenital amaurosis 8
Retinal dystrophy
Retinitis pigmentosa 12

Criteria Provided
Multiple Submitters
No Conflicts

CA1311993

rs_763111500

7 SubmittersRCV001201454 RCV001833768 RCV003449640 RCV005415607 RCV002250730 RCV003230647 RCV003449639

NM_201253.3(CRB1):c.1949G>A (p.Trp650Ter)

SNV
Germline

Chr1:197421777

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA344033034

rs_1664341626

1 SubmittersRCV001208214

NM_000329.3(RPE65):c.917C>T (p.Thr306Ile)

SNV
Germline

Chr1:68439023

Likely pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2
RPE65-related recessive retinopathy
Leber congenital amaurosis

Reviewed By Expert Panel

CA340744901

rs_1171545533

4 SubmittersRCV001212438 RCV003469354 RCV004801931 RCV005408752

NM_000329.3(RPE65):c.746A>G (p.Tyr249Cys)

SNV
Germline

Chr1:68439303

Pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis
Leber congenital amaurosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA902404

rs_373652862

3 SubmittersRCV001206748 RCV001833815 RCV003469337

NM_001122769.3(LCA5):c.795T>G (p.Tyr265Ter)

SNV
Germline

Chr6:79493676

Pathogenic

Condition: not provided
Leber congenital amaurosis 5

Criteria Provided
Multiple Submitters
No Conflicts

CA364645331

rs_1453987164

3 SubmittersRCV001207493 RCV002504243

NM_000883.4(IMPDH1):c.968A>G (p.Lys323Arg)

SNV
Germline

Chr7:128398520

Pathogenic/Likely pathogenic

Condition: not provided
Leber congenital amaurosis 11

Criteria Provided
Multiple Submitters
No Conflicts

CA369169029

rs_1798086782

3 SubmittersRCV001207064 RCV004698350

NM_152443.3(RDH12):c.407C>T (p.Thr136Ile)

SNV
Germline

Chr14:67726114

Conflicting classifications of pathogenicity

Leber congenital amaurosis
Leber congenital amaurosis 13
not specified

Criteria Provided
Conflicting Classifications

CA390150191

rs_1206574200

4 SubmittersRCV001828646 RCV001205016 RCV004690012

NM_152443.3(RDH12):c.535C>G (p.His179Asp)

SNV
Germline

Chr14:67727067

Pathogenic

Leber congenital amaurosis 13

Criteria Provided
Single Submitter

CA390150965

rs_2038195054

1 SubmittersRCV001204102

NM_152443.3(RDH12):c.582C>G (p.Tyr194Ter)

SNV
Germline

Chr14:67727114

Pathogenic

Leber congenital amaurosis 13
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA7238756

rs_753074829

3 SubmittersRCV001202459 RCV001833781

NM_018418.5(SPATA7):c.1160G>A (p.Arg387Lys)

SNV
Germline

Chr14:88433212

Conflicting classifications of pathogenicity

Leber congenital amaurosis 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA264541200

rs_868032740

2 SubmittersRCV001208493 RCV001751381

NM_201253.3(CRB1):c.2129-1G>C

SNV
Germline

Chr1:197427453

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA344036265

rs_1664642051

1 SubmittersRCV001203808

NM_000329.3(RPE65):c.643+2T>A

SNV
Germline

Chr1:68440851

Likely pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA340746737

rs_1645896934

2 SubmittersRCV001210075 RCV003469347

NM_025114.4(CEP290):c.5709+1G>A

SNV
Germline

Chr12:88077221

Pathogenic

Leber congenital amaurosis
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis

Criteria Provided
Single Submitter

CA6711675

rs_759850328

2 SubmittersRCV001833851 RCV001211207

NM_018418.5(SPATA7):c.20-1G>A

SNV
Germline

Chr14:88391380

Likely pathogenic

Leber congenital amaurosis 3

Criteria Provided
Single Submitter

CA7298352

rs_554224437

1 SubmittersRCV001211404

NM_000329.3(RPE65):c.726-2A>T

SNV
Germline

Chr1:68439325

Pathogenic

Leber congenital amaurosis 2
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Retinal dystrophy
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Retinitis pigmentosa 87 with choroidal involvement
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA340745897

rs_878853372

6 SubmittersRCV001250705 RCV001224577 RCV004813910 RCV005036492 RCV005253749

NM_201253.3(CRB1):c.1381C>T (p.Gln461Ter)

SNV
Germline

Chr1:197421209

Pathogenic/Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Condition: not provided
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Multiple Submitters
No Conflicts

CA344030641

rs_1664292210

3 SubmittersRCV001228468 RCV001780159 RCV003449718 RCV003449717

NM_201253.3(CRB1):c.1472A>T (p.Asp491Val)

SNV
Germline

Chr1:197421300

Conflicting classifications of pathogenicity

Retinitis pigmentosa 12
Leber congenital amaurosis 8
CRB1-related maculopathy

Criteria Provided
Conflicting Classifications

CA344031063

rs_1664299898

2 SubmittersRCV001237375 RCV001352966

NM_201253.3(CRB1):c.2258T>C (p.Leu753Pro)

SNV
Germline

Chr1:197427583

Conflicting classifications of pathogenicity

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8

Criteria Provided
Conflicting Classifications

CA35900458

rs_896160584

4 SubmittersRCV001232801 RCV001779138 RCV004813938 RCV005012649

NM_201253.3(CRB1):c.3952A>T (p.Lys1318Ter)

SNV
Germline

Chr1:197442239

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344052606

rs_1665482895

1 SubmittersRCV001230470

NM_000329.3(RPE65):c.536C>T (p.Ala179Val)

SNV
Germline

Chr1:68440960

Likely pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA340747151

rs_1645898265

2 SubmittersRCV001238369 RCV003770275

NM_001122769.3(LCA5):c.1756A>T (p.Lys586Ter)

SNV
Germline

Chr6:79487342

Pathogenic/Likely pathogenic

Condition: not provided
Leber congenital amaurosis 5

Criteria Provided
Multiple Submitters
No Conflicts

CA3900780

rs_772573829

3 SubmittersRCV001234955 RCV001828868

NM_001122769.3(LCA5):c.763C>T (p.Arg255Ter)

SNV
Germline

Chr6:79493708

Pathogenic

Condition: not provided
Retinitis pigmentosa
Leber congenital amaurosis 5
Polycystic liver disease 2

Criteria Provided
Multiple Submitters
No Conflicts

CA3901029

rs_151017794

5 SubmittersRCV001234057 RCV001724273 RCV001828861 RCV004813160

NM_025114.4(CEP290):c.3240T>G (p.Tyr1080Ter)

SNV
Germline

Chr12:88093839

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Joubert syndrome 5
Meckel syndrome, type 4
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA386006028

rs_886042467

2 SubmittersRCV001237935 RCV002504334

NM_020366.4(RPGRIP1):c.1219C>T (p.Gln407Ter)

SNV
Germline

Chr14:21317763

Pathogenic

Leber congenital amaurosis 6
Cone-rod dystrophy 13

Criteria Provided
Single Submitter

CA7088909

rs_775425686

1 SubmittersRCV001236080

NM_020366.4(RPGRIP1):c.2614A>G (p.Ile872Val)

SNV
Germline

Chr14:21326077

Conflicting classifications of pathogenicity

Cone-rod dystrophy 13
Leber congenital amaurosis 6
Retinal dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7089301

rs_747355604

3 SubmittersRCV001232092 RCV004813935 RCV005470679

NM_018418.5(SPATA7):c.386C>T (p.Pro129Leu)

SNV
Germline

Chr14:88426245

Conflicting classifications of pathogenicity

Leber congenital amaurosis 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7298528

rs_374126653

3 SubmittersRCV001236742 RCV001760251

NM_000180.4(GUCY2D):c.65G>A (p.Trp22Ter)

SNV
Germline

Chr17:8003112

Pathogenic

Cone-rod dystrophy 6
Leber congenital amaurosis 1

Criteria Provided
Single Submitter

CA397942558

rs_1308509257

1 SubmittersRCV001234701

NM_000180.4(GUCY2D):c.1556C>T (p.Thr519Ile)

SNV
Germline

Chr17:8007518

Conflicting classifications of pathogenicity

Cone-rod dystrophy 6
Leber congenital amaurosis 1
Choroidal dystrophy, central areolar, 1
Cone-rod dystrophy 6
Leber congenital amaurosis 1
Night blindness, congenital stationary, type1i

Criteria Provided
Conflicting Classifications

CA8365790

rs_549834851

2 SubmittersRCV001229951 RCV005400494

NM_000180.4(GUCY2D):c.1582C>T (p.Arg528Ter)

SNV
Germline

Chr17:8007946

Pathogenic

Cone-rod dystrophy 6
Leber congenital amaurosis 1

Criteria Provided
Single Submitter

CA397949593

rs_1349155167

1 SubmittersRCV001235694

NM_000554.6(CRX):c.128G>A (p.Arg43His)

SNV
Germline

Chr19:47836270

Pathogenic/Likely pathogenic

Leber congenital amaurosis 7
Cone-rod dystrophy 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA9544404

rs_771736389

2 SubmittersRCV001228802 RCV001544775

NM_201253.3(CRB1):c.601T>C (p.Cys201Arg)

SNV
Germline

Chr1:197328952

Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA1311661

rs_762835866

2 SubmittersRCV001243685 RCV004570621

NM_201253.3(CRB1):c.635G>A (p.Cys212Tyr)

SNV
Germline

Chr1:197328986

Conflicting classifications of pathogenicity

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
CRB1-related disorder
Leber congenital amaurosis 8

Criteria Provided
Conflicting Classifications

CA344081724

rs_1658699227

4 SubmittersRCV001240151 RCV002491791 RCV003449746 RCV003449748 RCV004545145 RCV003449747

NM_201253.3(CRB1):c.1094G>A (p.Arg365His)

SNV
Germline

Chr1:197356936

Conflicting classifications of pathogenicity

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1311804

rs_777528044

3 SubmittersRCV001241405 RCV001828975 RCV003353255

NM_201253.3(CRB1):c.2423A>G (p.Tyr808Cys)

SNV
Germline

Chr1:197427748

Conflicting classifications of pathogenicity

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA35900848

rs_1009552469

5 SubmittersRCV001245639 RCV001810005 RCV003449775 RCV003449774 RCV005057149 RCV005428149

NM_000329.3(RPE65):c.433G>A (p.Ala145Thr)

SNV
Germline

Chr1:68444593

Conflicting classifications of pathogenicity

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Condition: not provided
Leber congenital amaurosis
Retinal dystrophy
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Retinitis pigmentosa 87 with choroidal involvement

Criteria Provided
Conflicting Classifications

CA902508

rs_767528365

10 SubmittersRCV001244171 RCV001701309 RCV001836228 RCV004813999 RCV004813998 RCV005253763 RCV005036527

NM_000329.3(RPE65):c.421G>T (p.Glu141Ter)

SNV
Germline

Chr1:68444605

Pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20

Criteria Provided
Single Submitter

CA340747854

rs_1469460289

1 SubmittersRCV001245546

NM_000329.3(RPE65):c.124C>T (p.Leu42Phe)

SNV
Germline

Chr1:68446831

Likely pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis
Condition: not provided
RPE65-related recessive retinopathy
Retinitis pigmentosa 20

Reviewed By Expert Panel

CA902590

rs_750724065

5 SubmittersRCV001243775 RCV001829042 RCV001773551 RCV004801934 RCV004556080

NM_022787.4(NMNAT1):c.205A>G (p.Met69Val)

SNV
Germline

Chr1:9975681

Pathogenic

Leber congenital amaurosis 9

Criteria Provided
Single Submitter

CA579182

rs_372066126

2 SubmittersRCV001248040

NM_003322.6(TULP1):c.238C>T (p.Gln80Ter)

SNV
Germline

Chr6:35511759

Pathogenic

Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 14
Leber congenital amaurosis 15

Criteria Provided
Multiple Submitters
No Conflicts

CA363784635

rs_1309100490

3 SubmittersRCV001247233 RCV003106162 RCV005038010

NM_025114.4(CEP290):c.7015C>T (p.Arg2339Trp)

SNV
Germline

Chr12:88054359

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Condition: not provided
Leber congenital amaurosis
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Joubert syndrome 5
Leber congenital amaurosis 10
Bardet-Biedl syndrome 14
CEP290-related disorder
Inborn genetic diseases
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA6711377

rs_200969981

10 SubmittersRCV001243915 RCV001354642 RCV001835188 RCV002480820 RCV004577955 RCV004538510 RCV004609704 RCV004813996

NM_025114.4(CEP290):c.5885G>A (p.Arg1962Lys)

SNV
Germline

Chr12:88071420

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Condition: not provided
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Joubert syndrome 5
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Leber congenital amaurosis
Retinal dystrophy
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA6711621

rs_562477272

6 SubmittersRCV001247983 RCV001760286 RCV002499432 RCV001835317 RCV003887972 RCV004538524

NM_025114.4(CEP290):c.1235C>T (p.Thr412Met)

SNV
Germline

Chr12:88121121

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Joubert syndrome 5
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Leber congenital amaurosis
CEP290-related disorder
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6712594

rs_189280108

6 SubmittersRCV001244829 RCV002504354 RCV001835216 RCV004538514 RCV004978200 RCV004720814

NM_000554.6(CRX):c.590C>T (p.Pro197Leu)

SNV
Germline

Chr19:47839657

Conflicting classifications of pathogenicity

Inborn genetic diseases
Leber congenital amaurosis 7
Cone-rod dystrophy 2
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA9544527

rs_761290111

3 SubmittersRCV002563962 RCV001239949 RCV004813978

NM_201253.3(CRB1):c.2843-1G>T

SNV
Germline

Chr1:197434705

Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA344042909

rs_878853368

3 SubmittersRCV001226168 RCV003473786 RCV001828805

NM_000329.3(RPE65):c.11+2T>G

SNV
Germline

Chr1:68449893

Pathogenic/Likely pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis
Leber congenital amaurosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA902657

rs_778768116

3 SubmittersRCV001230466 RCV001833994 RCV003469408

NM_020366.4(RPGRIP1):c.219-2A>G

SNV
Germline

Chr14:21300964

Likely pathogenic

Cone-rod dystrophy 13
Leber congenital amaurosis 6

Criteria Provided
Single Submitter

CA388858386

rs_1880999471

1 SubmittersRCV001236081

NM_020366.4(RPGRIP1):c.1467+1G>A

SNV
Germline

Chr14:21320178

Likely pathogenic

Cone-rod dystrophy 13
Leber congenital amaurosis 6

Criteria Provided
Single Submitter

CA388864929

rs_1167313603

1 SubmittersRCV001238536

NM_020366.4(RPGRIP1):c.2711-2A>G

SNV
Germline

Chr14:21327621

Pathogenic

Cone-rod dystrophy 13
Leber congenital amaurosis 6

Criteria Provided
Single Submitter

CA7089334

rs_766443371

1 SubmittersRCV001238537

NM_201253.3(CRB1):c.624T>A (p.Tyr208Ter)

SNV
Germline

Chr1:197328975

Pathogenic

Leber congenital amaurosis 8

No Assertion Criteria Provided

CA344081700

rs_1658697788

1 SubmittersRCV001250656

NM_201253.3(CRB1):c.691C>T (p.Gln231Ter)

SNV
Germline

Chr1:197344319

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344083187

rs_1659642763

2 SubmittersRCV001250634 RCV001879782

NM_201253.3(CRB1):c.805C>T (p.Gln269Ter)

SNV
Germline

Chr1:197344433

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344083452

rs_753224594

2 SubmittersRCV001250635 RCV003770299

NM_201253.3(CRB1):c.974G>A (p.Cys325Tyr)

SNV
Germline

Chr1:197347465

Likely pathogenic

Leber congenital amaurosis 8

No Assertion Criteria Provided

CA344084248

rs_1659844562

1 SubmittersRCV001250642

NM_201253.3(CRB1):c.1750G>T (p.Asp584Tyr)

SNV
Germline

Chr1:197421578

Conflicting classifications of pathogenicity

Leber congenital amaurosis 8
Intellectual disability

No Assertion Criteria Provided

CA344032454

rs_1664322968

2 SubmittersRCV001250595 RCV001251961

NM_201253.3(CRB1):c.1818T>A (p.Cys606Ter)

SNV
Germline

Chr1:197421646

Pathogenic

Leber congenital amaurosis 8

No Assertion Criteria Provided

CA344032682

rs_371114178

1 SubmittersRCV001250655

NM_201253.3(CRB1):c.2219C>T (p.Ser740Phe)

SNV
Germline

Chr1:197427544

Likely pathogenic

Leber congenital amaurosis 8

No Assertion Criteria Provided

CA344036684

rs_1664649015

1 SubmittersRCV001250599

NM_201253.3(CRB1):c.2234C>A (p.Thr745Lys)

SNV
Germline

Chr1:197427559

Pathogenic/Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA35900398

rs_28939720

3 SubmittersRCV001250643 RCV001879784

NM_201253.3(CRB1):c.2466G>A (p.Trp822Ter)

SNV
Germline

Chr1:197427791

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344037547

rs_1664669402

2 SubmittersRCV001250650 RCV002568707

NM_201253.3(CRB1):c.2549G>C (p.Gly850Ala)

SNV
Germline

Chr1:197427874

Likely pathogenic

Leber congenital amaurosis 8

No Assertion Criteria Provided

CA344038189

rs_757137398

1 SubmittersRCV001250640

NM_201253.3(CRB1):c.2585T>G (p.Leu862Arg)

SNV
Germline

Chr1:197427910

Likely pathogenic

Leber congenital amaurosis 8

No Assertion Criteria Provided

CA344038404

rs_1664680011

1 SubmittersRCV001250607

NM_201253.3(CRB1):c.2638A>G (p.Asn880Asp)

SNV
Germline

Chr1:197427963

Likely pathogenic

Leber congenital amaurosis 8

No Assertion Criteria Provided

CA344038597

rs_1664683759

1 SubmittersRCV001250644

NM_201253.3(CRB1):c.3074G>A (p.Ser1025Asn)

SNV
Germline

Chr1:197434937

Pathogenic/Likely pathogenic

Leber congenital amaurosis 8
Retinal dystrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA344045220

rs_62636274

4 SubmittersRCV001250613 RCV003331092 RCV005225328

NM_201253.3(CRB1):c.3153G>A (p.Trp1051Ter)

SNV
Germline

Chr1:197435016

Likely pathogenic

Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344046113

rs_1249210332

2 SubmittersRCV001250647

NM_201253.3(CRB1):c.3164T>A (p.Val1055Glu)

SNV
Germline

Chr1:197435027

Likely pathogenic

Leber congenital amaurosis 8

No Assertion Criteria Provided

CA344046256

rs_1665071224

1 SubmittersRCV001250653

NM_201253.3(CRB1):c.3308G>T (p.Gly1103Val)

SNV
Germline

Chr1:197435171

Likely pathogenic

Leber congenital amaurosis 8

No Assertion Criteria Provided

CA344047041

rs_1665084413

1 SubmittersRCV001250637

NM_201253.3(CRB1):c.3507G>A (p.Trp1169Ter)

SNV
Germline

Chr1:197435370

Pathogenic

Leber congenital amaurosis 8

No Assertion Criteria Provided

CA344048449

rs_1665100553

1 SubmittersRCV001250654

NM_201253.3(CRB1):c.3854G>A (p.Cys1285Tyr)

SNV
Germline

Chr1:197438651

Likely pathogenic

Leber congenital amaurosis 8

No Assertion Criteria Provided

CA344050988

rs_1665280076

1 SubmittersRCV001250651

NM_201253.3(CRB1):c.4003G>T (p.Asp1335Tyr)

SNV
Germline

Chr1:197442290

Likely pathogenic

Leber congenital amaurosis 8

No Assertion Criteria Provided

CA344052762

rs_1665489039

1 SubmittersRCV001250633

NM_201253.3(CRB1):c.4073T>A (p.Ile1358Asn)

SNV
Germline

Chr1:197477731

Likely pathogenic

Leber congenital amaurosis 8

No Assertion Criteria Provided

CA344035535

rs_1667260204

1 SubmittersRCV001250632

NM_201253.3(CRB1):c.4085C>A (p.Ala1362Asp)

SNV
Germline

Chr1:197477743

Likely pathogenic

Leber congenital amaurosis 8

No Assertion Criteria Provided

CA344035558

rs_1667260968

1 SubmittersRCV001250623

NM_201253.3(CRB1):c.4142C>G (p.Pro1381Arg)

SNV
Germline

Chr1:197477800

Likely pathogenic

Leber congenital amaurosis 8
Leber congenital amaurosis

No Assertion Criteria Provided

CA344035784

rs_1667264651

2 SubmittersRCV001250625 RCV005614504

NM_201253.3(CRB1):c.4142C>T (p.Pro1381Leu)

SNV
Germline

Chr1:197477800

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA344035786

rs_1667264651

6 SubmittersRCV001250641 RCV001879783 RCV002246235 RCV003449809 RCV004800755

NM_000554.6(CRX):c.489G>A (p.Trp163Ter)

SNV
Germline

Chr19:47839556

Pathogenic

Leber congenital amaurosis 7

No Assertion Criteria Provided

CA406630819

rs_1968166379

1 SubmittersRCV001250583

NM_000554.6(CRX):c.523C>T (p.Gln175Ter)

SNV
Germline

Chr19:47839590

Pathogenic

Leber congenital amaurosis 7
Cone-rod dystrophy 2
Leber congenital amaurosis 7
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA406630948

rs_1968167093

3 SubmittersRCV001250585 RCV002570426 RCV004584428

NM_000554.6(CRX):c.585C>A (p.Tyr195Ter)

SNV
Germline

Chr19:47839652

Pathogenic

Leber congenital amaurosis 7

No Assertion Criteria Provided

CA406631166

rs_373497612

1 SubmittersRCV001250588

NM_000329.3(RPE65):c.993G>A (p.Trp331Ter)

SNV
Germline

Chr1:68438947

Pathogenic/Likely pathogenic

Leber congenital amaurosis 2
Autosomal recessive retinitis pigmentosa
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Retinitis pigmentosa 20

Criteria Provided
Multiple Submitters
No Conflicts

CA340744580

rs_1645879569

4 SubmittersRCV001250692 RCV001257822 RCV002570429 RCV004798894

NM_000329.3(RPE65):c.923C>T (p.Pro308Leu)

SNV
Germline

Chr1:68439017

Likely pathogenic

Leber congenital amaurosis 2

No Assertion Criteria Provided

CA340744884

rs_1645880232

1 SubmittersRCV001250690

NM_000329.3(RPE65):c.914G>T (p.Arg305Ile)

SNV
Germline

Chr1:68439026

Likely pathogenic

Leber congenital amaurosis 2

No Assertion Criteria Provided

CA340744912

rs_1645880293

1 SubmittersRCV001250689

NM_000329.3(RPE65):c.770T>G (p.Val257Gly)

SNV
Germline

Chr1:68439279

Likely pathogenic

Leber congenital amaurosis 2
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA340745797

rs_1645883131

2 SubmittersRCV001250709 RCV005621090

NM_000329.3(RPE65):c.706A>T (p.Lys236Ter)

SNV
Germline

Chr1:68439580

Pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

CA340745946

rs_1645885900

2 SubmittersRCV001250699 RCV001390652

NM_000329.3(RPE65):c.571A>G (p.Asn191Asp)

SNV
Germline

Chr1:68440925

Likely pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA340747062

rs_1189903735

3 SubmittersRCV001250686 RCV003770301 RCV005621087

NM_000329.3(RPE65):c.407T>G (p.Val136Gly)

SNV
Germline

Chr1:68444619

Likely pathogenic

Leber congenital amaurosis 2

No Assertion Criteria Provided

CA340747886

rs_1645928251

1 SubmittersRCV001250696

NM_000329.3(RPE65):c.190C>T (p.Gln64Ter)

SNV
Germline

Chr1:68446765

Pathogenic

Leber congenital amaurosis 2
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA340749039

rs_1645945599

2 SubmittersRCV001250680 RCV005253768

NM_000329.3(RPE65):c.187G>C (p.Gly63Arg)

SNV
Germline

Chr1:68446768

Likely pathogenic

Leber congenital amaurosis 2

No Assertion Criteria Provided

CA340749045

rs_1645945643

1 SubmittersRCV001250679

NM_000329.3(RPE65):c.246-11A>G

SNV
Germline

Chr1:68444894

Likely pathogenic

Leber congenital amaurosis 2
Leber congenital amaurosis
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Retinitis pigmentosa 87 with choroidal involvement
Leber congenital amaurosis 2
RPE65-related recessive retinopathy
Retinal dystrophy

Reviewed By Expert Panel

CA23575475

rs_905365719

7 SubmittersRCV001250681 RCV002307711 RCV002570428 RCV002480862 RCV003770300 RCV004814022

NM_000180.4(GUCY2D):c.543G>A (p.Trp181Ter)

SNV
Germline

Chr17:8003590

Pathogenic

Leber congenital amaurosis 1

No Assertion Criteria Provided

CA397944105

rs_1403798841

1 SubmittersRCV001250863

NM_000180.4(GUCY2D):c.743C>T (p.Ser248Leu)

SNV
Germline

Chr17:8003873

Conflicting classifications of pathogenicity

Leber congenital amaurosis 1
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA397945069

rs_138922415

4 SubmittersRCV001250878 RCV003325556 RCV004690035

NM_000180.4(GUCY2D):c.997G>T (p.Glu333Ter)

SNV
Germline

Chr17:8004127

Pathogenic

Leber congenital amaurosis 1

No Assertion Criteria Provided

CA397946372

rs_755999834

1 SubmittersRCV001250828

NM_000180.4(GUCY2D):c.1211T>C (p.Leu404Pro)

SNV
Germline

Chr17:8006547

Likely pathogenic

Leber congenital amaurosis 1

No Assertion Criteria Provided

CA397947966

rs_1975743813

1 SubmittersRCV001250877

NM_000180.4(GUCY2D):c.1924T>G (p.Phe642Val)

SNV
Germline

Chr17:8012318

Likely pathogenic

Leber congenital amaurosis 1

No Assertion Criteria Provided

CA397951831

rs_1975868246

1 SubmittersRCV001250833

NM_000180.4(GUCY2D):c.1943T>C (p.Leu648Pro)

SNV
Germline

Chr17:8012337

Likely pathogenic

Leber congenital amaurosis 1

No Assertion Criteria Provided

CA397951910

rs_1975868797

1 SubmittersRCV001250868

NM_000180.4(GUCY2D):c.2008C>T (p.Arg670Trp)

SNV
Germline

Chr17:8012501

Likely pathogenic

Leber congenital amaurosis 1
Leber congenital amaurosis

Criteria Provided
Single Submitter

CA287531201

rs_931906767

2 SubmittersRCV001250834 RCV005419054

NM_000180.4(GUCY2D):c.2132C>T (p.Pro711Leu)

SNV
Germline

Chr17:8013121

Likely pathogenic

Leber congenital amaurosis 1
Cone-rod dystrophy 6
Leber congenital amaurosis 1
GUCY2D-related recessive retinopathy
Leber congenital amaurosis

Reviewed By Expert Panel

CA8366018

rs_765463082

5 SubmittersRCV001250836 RCV001306871 RCV005053977 RCV004690034

NM_000180.4(GUCY2D):c.2338T>C (p.Cys780Arg)

SNV
Germline

Chr17:8013954

Likely pathogenic

Leber congenital amaurosis 1

No Assertion Criteria Provided

CA397953204

rs_1975909279

1 SubmittersRCV001250838

NM_000180.4(GUCY2D):c.2393T>G (p.Met798Arg)

SNV
Germline

Chr17:8014009

Likely pathogenic

Leber congenital amaurosis 1

No Assertion Criteria Provided

CA397953324

rs_1975911358

1 SubmittersRCV001250840

NM_000180.4(GUCY2D):c.2521G>T (p.Glu841Ter)

SNV
Germline

Chr17:8014709

Likely pathogenic

Leber congenital amaurosis 1
GUCY2D retinopathy

Criteria Provided
Single Submitter

CA397953660

rs_1341592819

2 SubmittersRCV001250841 RCV002568711

NM_000180.4(GUCY2D):c.2627T>C (p.Phe876Ser)

SNV
Germline

Chr17:8014909

Likely pathogenic

Leber congenital amaurosis 1

No Assertion Criteria Provided

CA8366181

rs_762981013

1 SubmittersRCV001250871

NM_000180.4(GUCY2D):c.2660T>G (p.Val887Gly)

SNV
Germline

Chr17:8014942

Likely pathogenic

Leber congenital amaurosis 1

No Assertion Criteria Provided

CA287533283

rs_573270795

1 SubmittersRCV001250844

NM_000180.4(GUCY2D):c.2783G>C (p.Gly928Ala)

SNV
Germline

Chr17:8015341

Likely pathogenic

Leber congenital amaurosis 1

No Assertion Criteria Provided

CA397954326

rs_1975943992

1 SubmittersRCV001250846

NM_000180.4(GUCY2D):c.2836G>T (p.Ala946Ser)

SNV
Germline

Chr17:8015394

Likely pathogenic

Leber congenital amaurosis 1

No Assertion Criteria Provided

CA397954535

rs_1975945845

1 SubmittersRCV001250860

NM_000180.4(GUCY2D):c.2848G>A (p.Ala950Thr)

SNV
Germline

Chr17:8015406

Likely pathogenic

Leber congenital amaurosis 1

No Assertion Criteria Provided

CA397954597

rs_1306952187

1 SubmittersRCV001250849

NM_000180.4(GUCY2D):c.2939A>T (p.His980Leu)

SNV
Germline

Chr17:8015497

Likely pathogenic

Leber congenital amaurosis 1

No Assertion Criteria Provided

CA8366258

rs_764954235

1 SubmittersRCV001250879

NM_000180.4(GUCY2D):c.3037G>A (p.Gly1013Arg)

SNV
Germline

Chr17:8015835

Pathogenic

Leber congenital amaurosis 1
Leber congenital amaurosis 1
Cone-rod dystrophy 6

Criteria Provided
Single Submitter

CA287534219

rs_868612148

2 SubmittersRCV001250854 RCV001879810

NM_000180.4(GUCY2D):c.3056A>C (p.His1019Pro)

SNV
Germline

Chr17:8015939

Likely pathogenic

Leber congenital amaurosis 1
GUCY2D-related recessive retinopathy

Reviewed By Expert Panel

CA397955568

rs_1429807175

2 SubmittersRCV001250856 RCV005053978

NM_000180.4(GUCY2D):c.3163T>G (p.Trp1055Gly)

SNV
Germline

Chr17:8016229

Likely pathogenic

Leber congenital amaurosis 1

No Assertion Criteria Provided

CA397955996

rs_1975971228

1 SubmittersRCV001250873

NM_000180.4(GUCY2D):c.1378+1G>A

SNV
Germline

Chr17:8006715

Pathogenic

Leber congenital amaurosis 1

No Assertion Criteria Provided

CA397948627

rs_1975751307

1 SubmittersRCV001250876

NM_000180.4(GUCY2D):c.2263+2T>C

SNV
Germline

Chr17:8013254

Pathogenic

Leber congenital amaurosis 1

No Assertion Criteria Provided

CA397953045

rs_1975893449

1 SubmittersRCV001250867

NM_000180.4(GUCY2D):c.2413-1G>C

SNV
Germline

Chr17:8014600

Pathogenic

Leber congenital amaurosis 1

No Assertion Criteria Provided

CA397953380

rs_1975923246

1 SubmittersRCV001250865

NM_000180.4(GUCY2D):c.2577-2A>C

SNV
Germline

Chr17:8014857

Pathogenic

Leber congenital amaurosis 1

No Assertion Criteria Provided

CA397953856

rs_1975931968

1 SubmittersRCV001250843

NM_000180.4(GUCY2D):c.2770-2A>G

SNV
Germline

Chr17:8015326

Pathogenic

Leber congenital amaurosis 1
Cone-rod dystrophy 6
Leber congenital amaurosis 1

Criteria Provided
Single Submitter

CA397954292

rs_1975943416

2 SubmittersRCV001250845 RCV005225330

NM_000180.4(GUCY2D):c.2770-1G>C

SNV
Germline

Chr17:8015327

Pathogenic

Leber congenital amaurosis 1

No Assertion Criteria Provided

CA397954295

rs_1975943461

1 SubmittersRCV001250814

NM_000180.4(GUCY2D):c.1937T>C (p.Leu646Pro)

SNV
Germline

Chr17:8012331

Likely pathogenic

Leber congenital amaurosis 1

Criteria Provided
Single Submitter

CA397951891

rs_1975868606

1 SubmittersRCV001251456

NM_152443.3(RDH12):c.38C>A (p.Ser13Ter)

SNV
Germline

Chr14:67722680

Pathogenic

Leber congenital amaurosis 13

No Assertion Criteria Provided

CA262808042

rs_912107188

1 SubmittersRCV001255720

NM_152443.3(RDH12):c.238G>C (p.Ala80Pro)

SNV
Germline

Chr14:67725149

Likely pathogenic

Leber congenital amaurosis 13

No Assertion Criteria Provided

CA262808732

rs_1032626668

1 SubmittersRCV001255721

NM_152443.3(RDH12):c.716G>A (p.Arg239Gln)

SNV
Germline

Chr14:67729248

Likely pathogenic

Leber congenital amaurosis 13

Criteria Provided
Multiple Submitters
No Conflicts

CA390152961

rs_1239043055

3 SubmittersRCV001255719

NM_152443.3(RDH12):c.805G>C (p.Ala269Pro)

SNV
Germline

Chr14:67729337

Likely pathogenic

Leber congenital amaurosis 13

No Assertion Criteria Provided

CA390153286

rs_767385752

1 SubmittersRCV001255723

NM_152443.3(RDH12):c.932T>C (p.Leu311Pro)

SNV
Germline

Chr14:67733829

Likely pathogenic

Leber congenital amaurosis 13

No Assertion Criteria Provided

CA7238882

rs_769546135

1 SubmittersRCV001255724

NM_152443.3(RDH12):c.448+1G>A

SNV
Germline

Chr14:67726156

Pathogenic

Leber congenital amaurosis 13

Criteria Provided
Multiple Submitters
No Conflicts

CA390150389

rs_781331005

3 SubmittersRCV001255715

NM_152443.3(RDH12):c.659-2A>T

SNV
Germline

Chr14:67729189

Likely pathogenic

Leber congenital amaurosis 13

Criteria Provided
Multiple Submitters
No Conflicts

CA390152852

rs_2038231425

4 SubmittersRCV001255718

NM_003322.6(TULP1):c.1445G>A (p.Arg482Gln)

SNV
Germline

Chr6:35500031

Pathogenic

Leber congenital amaurosis 15
Condition: not provided
Retinitis pigmentosa 14

Criteria Provided
Multiple Submitters
No Conflicts

CA137278071

rs_146311742

3 SubmittersRCV001255931 RCV001386008 RCV001810007

NM_003322.6(TULP1):c.1204G>A (p.Glu402Lys)

SNV
Germline

Chr6:35503757

Likely pathogenic

Leber congenital amaurosis 15

No Assertion Criteria Provided

CA363779284

rs_387906835

1 SubmittersRCV001255928

NM_018418.5(SPATA7):c.763C>T (p.Gln255Ter)

SNV
Germline

Chr14:88426622

Pathogenic

Leber congenital amaurosis 3

No Assertion Criteria Provided

CA390564480

rs_1387058171

1 SubmittersRCV001255916

NM_018418.5(SPATA7):c.19+1G>C

SNV
Germline

Chr14:88385838

Pathogenic

Leber congenital amaurosis 3

No Assertion Criteria Provided

CA390543520

rs_2075555029

1 SubmittersRCV001255921

NM_018418.5(SPATA7):c.845+1G>A

SNV
Germline

Chr14:88426705

Pathogenic

Leber congenital amaurosis 3
Retinal dystrophy

Criteria Provided
Single Submitter

CA7298605

rs_761981554

2 SubmittersRCV001255917 RCV003887976

NM_018418.5(SPATA7):c.1161-1G>C

SNV
Germline

Chr14:88437542

Pathogenic

Leber congenital amaurosis 3

Criteria Provided
Single Submitter

CA7298755

rs_779101498

2 SubmittersRCV001255919

NM_000554.6(CRX):c.292C>T (p.Arg98Ter)

SNV
Germline

Chr19:47839359

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Cone-rod dystrophy 2
Leber congenital amaurosis 7
Cone-rod dystrophy 2

Criteria Provided
Multiple Submitters
No Conflicts

CA406630343

rs_751018117

3 SubmittersRCV001256189 RCV001879957 RCV005235552

NM_022787.4(NMNAT1):c.-72G>A

SNV
Germline

Chr1:9943500

Likely pathogenic

Leber congenital amaurosis 9

No Assertion Criteria Provided

CA740952949

rs_1475372376

1 SubmittersRCV001256651

NM_022787.4(NMNAT1):c.-69C>T

SNV
Germline

Chr1:9943503

Pathogenic

Leber congenital amaurosis 9

No Assertion Criteria Provided

CA740952963

rs_1175912276

1 SubmittersRCV001256639

NM_022787.4(NMNAT1):c.-57G>T

SNV
Germline

Chr1:9943515

Likely pathogenic

Leber congenital amaurosis 9

No Assertion Criteria Provided

CA1139655961

rs_1640875002

1 SubmittersRCV001256653

NM_022787.4(NMNAT1):c.1A>G (p.Met1Val)

SNV
Germline

Chr1:9972074

Pathogenic

Leber congenital amaurosis 9

No Assertion Criteria Provided

CA579113

rs_756649389

1 SubmittersRCV001256656

NM_022787.4(NMNAT1):c.179T>G (p.Leu60Arg)

SNV
Germline

Chr1:9975655

Likely pathogenic

Leber congenital amaurosis 9

No Assertion Criteria Provided

CA338684420

rs_1641789657

1 SubmittersRCV001256642

NM_022787.4(NMNAT1):c.238G>A (p.Val80Met)

SNV
Germline

Chr1:9975714

Likely pathogenic

Leber congenital amaurosis 9

No Assertion Criteria Provided

CA338684971

rs_1641791811

1 SubmittersRCV001256657

NM_022787.4(NMNAT1):c.244G>T (p.Val82Phe)

SNV
Germline

Chr1:9975720

Likely pathogenic

Leber congenital amaurosis 9

No Assertion Criteria Provided

CA338685016

rs_1641792104

1 SubmittersRCV001256658

NM_022787.4(NMNAT1):c.319G>T (p.Glu107Ter)

SNV
Germline

Chr1:9981050

Pathogenic

Leber congenital amaurosis 9

No Assertion Criteria Provided

CA338685904

rs_1641936336

1 SubmittersRCV001256660

NM_022787.4(NMNAT1):c.376A>T (p.Lys126Ter)

SNV
Germline

Chr1:9981107

Pathogenic

Leber congenital amaurosis 9

No Assertion Criteria Provided

CA338686033

rs_1641937559

1 SubmittersRCV001256661

NM_022787.4(NMNAT1):c.439G>C (p.Ala147Pro)

SNV
Germline

Chr1:9981170

Likely pathogenic

Leber congenital amaurosis 9

No Assertion Criteria Provided

CA338686174

rs_1570715470

1 SubmittersRCV001256662

NM_022787.4(NMNAT1):c.458T>C (p.Leu153Pro)

SNV
Germline

Chr1:9982319

Likely pathogenic

Leber congenital amaurosis 9

No Assertion Criteria Provided

CA338686460

rs_1641966303

1 SubmittersRCV001256644

NM_022787.4(NMNAT1):c.500A>T (p.Asn167Ile)

SNV
Germline

Chr1:9982361

Likely pathogenic

Leber congenital amaurosis 9

No Assertion Criteria Provided

CA338686551

rs_1405020783

1 SubmittersRCV001256647

NM_022787.4(NMNAT1):c.518A>G (p.Asp173Gly)

SNV
Germline

Chr1:9982379

Likely pathogenic

Leber congenital amaurosis 9

No Assertion Criteria Provided

CA338686596

rs_1641967500

1 SubmittersRCV001256664

NM_022787.4(NMNAT1):c.643G>T (p.Glu215Ter)

SNV
Germline

Chr1:9982504

Pathogenic

Leber congenital amaurosis 9

No Assertion Criteria Provided

CA338687023

rs_1345605596

1 SubmittersRCV001256665

NM_022787.4(NMNAT1):c.647G>C (p.Trp216Ser)

SNV
Germline

Chr1:9982508

Likely pathogenic

Leber congenital amaurosis 9

No Assertion Criteria Provided

CA579300

rs_771954272

1 SubmittersRCV001256666

NM_022787.4(NMNAT1):c.650T>A (p.Ile217Asn)

SNV
Germline

Chr1:9982511

Likely pathogenic

Leber congenital amaurosis 9

No Assertion Criteria Provided

CA338687050

rs_1641971124

1 SubmittersRCV001256650

NM_022787.4(NMNAT1):c.717G>T (p.Leu239Phe)

SNV
Germline

Chr1:9982578

Likely pathogenic

Leber congenital amaurosis 9

No Assertion Criteria Provided

CA338687204

rs_1641973290

1 SubmittersRCV001256646

NM_022787.4(NMNAT1):c.-57+4A>G

SNV
Germline

Chr1:9943519

Likely pathogenic

Leber congenital amaurosis 9

No Assertion Criteria Provided

CA18197799

rs_957312118

1 SubmittersRCV001256652

NM_022787.4(NMNAT1):c.-57+10C>T

SNV
Germline

Chr1:9943525

Likely pathogenic

Leber congenital amaurosis 9

No Assertion Criteria Provided

CA1139655962

rs_1640875786

1 SubmittersRCV001256648

NM_022787.4(NMNAT1):c.439+1G>C

SNV
Germline

Chr1:9981171

Pathogenic

Leber congenital amaurosis 9

No Assertion Criteria Provided

CA338686177

rs_1641939338

1 SubmittersRCV001256663

NM_002242.4(KCNJ13):c.655C>T (p.Gln219Ter)

SNV
Germline

Chr2:232768619

Pathogenic

Leber congenital amaurosis 16

No Assertion Criteria Provided

CA351009875

rs_1475176373

1 SubmittersRCV001257099

NM_002242.4(KCNJ13):c.314G>T (p.Ser105Ile)

SNV
Germline

Chr2:232771049

Likely pathogenic

Leber congenital amaurosis 16

No Assertion Criteria Provided

CA351013697

rs_1699223440

1 SubmittersRCV001257100

NM_004744.5(LRAT):c.149T>G (p.Val50Gly)

SNV
Germline

Chr4:154744475

Likely pathogenic

Leber congenital amaurosis 14

No Assertion Criteria Provided

CA358630086

rs_1384466058

1 SubmittersRCV001257119

NM_004744.5(LRAT):c.481T>C (p.Cys161Arg)

SNV
Germline

Chr4:154744807

Likely pathogenic

Leber congenital amaurosis 14

No Assertion Criteria Provided

CA358630779

rs_1732848653

1 SubmittersRCV001257116

NM_001122769.3(LCA5):c.1486G>T (p.Glu496Ter)

SNV
Germline

Chr6:79487612

Pathogenic

Leber congenital amaurosis 5

No Assertion Criteria Provided

CA364640593

rs_1769706250

1 SubmittersRCV001257112

NM_001122769.3(LCA5):c.1186G>T (p.Glu396Ter)

SNV
Germline

Chr6:79489129

Pathogenic

Leber congenital amaurosis 5

No Assertion Criteria Provided

CA364642432

rs_1769761816

1 SubmittersRCV001257111

NM_001122769.3(LCA5):c.610C>T (p.Gln204Ter)

SNV
Germline

Chr6:79513322

Pathogenic

Leber congenital amaurosis 5

No Assertion Criteria Provided

CA364628504

rs_1766298401

1 SubmittersRCV001257108

NM_001122769.3(LCA5):c.395A>G (p.Glu132Gly)

SNV
Germline

Chr6:79513537

Likely pathogenic

Leber congenital amaurosis 5

No Assertion Criteria Provided

CA364629197

rs_1766318937

1 SubmittersRCV001257104

NM_001122769.3(LCA5):c.858+1G>C

SNV
Germline

Chr6:79493612

Likely pathogenic

Leber congenital amaurosis 5
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA3901011

rs_753594556

3 SubmittersRCV001257110 RCV002570616

NM_025114.4(CEP290):c.5329C>T (p.Gln1777Ter)

SNV
Germline

Chr12:88079127

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Severe hydrocephalus
Encephalocele
Polycystic kidney disease
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Joubert syndrome 5
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA6711738

rs_774410421

4 SubmittersRCV001382992 RCV001257363 RCV005012700 RCV004570649

NM_201253.3(CRB1):c.80G>T (p.Cys27Phe)

SNV
Germline

Chr1:197328431

Pathogenic/Likely pathogenic

Autosomal recessive retinitis pigmentosa
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Multiple Submitters
No Conflicts

CA344084973

rs_1460946384

3 SubmittersRCV001257868 RCV003473841 RCV003989663

NM_201253.3(CRB1):c.1463T>C (p.Phe488Ser)

SNV
Germline

Chr1:197421291

Conflicting classifications of pathogenicity

Autosomal recessive retinitis pigmentosa
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 13

Criteria Provided
Conflicting Classifications

CA1311925

rs_777377174

3 SubmittersRCV001257861 RCV003770345 RCV004527416

NM_201253.3(CRB1):c.2024G>A (p.Trp675Ter)

SNV
Germline

Chr1:197421852

Pathogenic

Autosomal recessive retinitis pigmentosa
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344033515

rs_1664348016

2 SubmittersRCV001257863 RCV001332031

NM_020366.4(RPGRIP1):c.2710+1G>A

SNV
Germline

Chr14:21326174

Pathogenic

Leber congenital amaurosis 6

No Assertion Criteria Provided

CA388869654

rs_1883084009

1 SubmittersRCV001261176

NM_020366.4(RPGRIP1):c.2895+1G>A

SNV
Germline

Chr14:21327808

Pathogenic

Leber congenital amaurosis 6

No Assertion Criteria Provided

CA388870854

rs_748072501

1 SubmittersRCV001261175

NM_020366.4(RPGRIP1):c.2895+1G>T

SNV
Germline

Chr14:21327808

Pathogenic

Leber congenital amaurosis 6
Leber congenital amaurosis 6
Cone-rod dystrophy 13
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA7089364

rs_748072501

4 SubmittersRCV001261174 RCV001880011 RCV003324559

NM_020366.4(RPGRIP1):c.521C>G (p.Pro174Arg)

SNV
Germline

Chr14:21302518

Likely pathogenic

Leber congenital amaurosis 6

No Assertion Criteria Provided

CA388860027

rs_780733881

1 SubmittersRCV001261171

NM_020366.4(RPGRIP1):c.1447C>T (p.Gln483Ter)

SNV
Germline

Chr14:21320157

Pathogenic

Leber congenital amaurosis 6
Leber congenital amaurosis 6
Cone-rod dystrophy 13

Criteria Provided
Single Submitter

CA7088968

rs_368781265

2 SubmittersRCV001261179 RCV001389834

NM_020366.4(RPGRIP1):c.1687C>T (p.Arg563Ter)

SNV
Germline

Chr14:21321929

Pathogenic

Leber congenital amaurosis 6
Leber congenital amaurosis 6
Cone-rod dystrophy 13

Criteria Provided
Single Submitter

CA257535773

rs_776963292

2 SubmittersRCV001261181 RCV002537617

NM_020366.4(RPGRIP1):c.2086G>T (p.Glu696Ter)

SNV
Germline

Chr14:21324941

Pathogenic

Leber congenital amaurosis 6

No Assertion Criteria Provided

CA388867886

rs_1882904268

1 SubmittersRCV001261182

NM_020366.4(RPGRIP1):c.3679G>A (p.Gly1227Arg)

SNV
Germline

Chr14:21348233

Likely pathogenic

Leber congenital amaurosis 6

No Assertion Criteria Provided

CA388858083

rs_1885763952

1 SubmittersRCV001261190

NM_025114.4(CEP290):c.6271-1G>A

SNV
Germline

Chr12:88062779

Likely pathogenic

Leber congenital amaurosis 10
Senior-Loken syndrome 6
Joubert syndrome 5
Meckel syndrome, type 4
Bardet-Biedl syndrome 14

Criteria Provided
Single Submitter

rs_2034579709

1 SubmittersRCV005012702

NM_025114.4(CEP290):c.3847C>T (p.Gln1283Ter)

SNV
Germline

Chr12:88089214

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome 5
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Joubert syndrome 5
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
CEP290-related disorder
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA386000583

rs_2036824785

5 SubmittersRCV001390760 RCV004796396 RCV005005128 RCV003120515 RCV003469489

NM_000180.4(GUCY2D):c.1991A>C (p.His664Pro)

SNV
Germline

Chr17:8012484

Likely pathogenic

Leber congenital amaurosis

Criteria Provided
Single Submitter

rs_1238251797

1 SubmittersRCV005419060

NM_000180.4(GUCY2D):c.2984G>A (p.Arg995Gln)

SNV
Germline

Chr17:8015782

Likely pathogenic

Leber congenital amaurosis

Criteria Provided
Single Submitter

rs_777075412

1 SubmittersRCV004699245

NM_000180.4(GUCY2D):c.3038G>A (p.Gly1013Glu)

SNV
Germline

Chr17:8015836

Pathogenic

Cone-rod dystrophy 6
Leber congenital amaurosis 1

Criteria Provided
Single Submitter

CA397955455

rs_1975959442

1 SubmittersRCV003770363

NM_018418.5(SPATA7):c.388C>T (p.Gln130Ter)

SNV
Germline

Chr14:88426247

Pathogenic

Leber congenital amaurosis 3

Criteria Provided
Single Submitter

rs_1223558848

1 SubmittersRCV005253774

NM_022787.4(NMNAT1):c.196C>T (p.Arg66Trp)

SNV
Germline

Chr1:9975672

Pathogenic

Leber congenital amaurosis 9

Criteria Provided
Single Submitter

CA579178

rs_763325435

1 SubmittersRCV001381857

NM_000329.3(RPE65):c.209T>C (p.Phe70Ser)

SNV
Germline

Chr1:68446746

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA340748969

rs_1645945363

3 SubmittersRCV001268583 RCV005225342 RCV005606796

NM_003322.6(TULP1):c.568G>T (p.Glu190Ter)

SNV
Germline

Chr6:35509860

Pathogenic

Condition: not provided
Leber congenital amaurosis 15

Criteria Provided
Multiple Submitters
No Conflicts

CA363782859

rs_1761161294

2 SubmittersRCV001268710 RCV001729832

NM_152443.3(RDH12):c.226G>A (p.Gly76Arg)

SNV
Germline

Chr14:67725137

Pathogenic

Condition: not provided
Leber congenital amaurosis 13
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA7238647

rs_368489658

5 SubmittersRCV001268128 RCV001387781 RCV005236749

NM_025114.4(CEP290):c.1747A>G (p.Ile583Val)

SNV
Germline

Chr12:88117110

Conflicting classifications of pathogenicity

Leber congenital amaurosis
Meckel syndrome, type 4
Joubert syndrome 5
Leber congenital amaurosis 10
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA385978293

rs_1459958084

3 SubmittersRCV001279555 RCV002493497 RCV005318701

NM_025114.4(CEP290):c.4714G>T (p.Glu1572Ter)

SNV
Germline

Chr12:88083945

Pathogenic/Likely pathogenic

Joubert syndrome 5
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Condition: not provided
Leber congenital amaurosis 10

Criteria Provided
Multiple Submitters
No Conflicts

CA385994080

rs_1292516576

4 SubmittersRCV001283851 RCV002541764 RCV003135916 RCV003989669

NM_201253.3(CRB1):c.3996C>G (p.Cys1332Trp)

SNV
Germline

Chr1:197442283

Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344052724

rs_1665487563

1 SubmittersRCV001305823

NM_001122769.3(LCA5):c.2T>C (p.Met1Thr)

SNV
Germline

Chr6:79518893

Pathogenic/Likely pathogenic

Condition: not provided
Leber congenital amaurosis
Leber congenital amaurosis 5

Criteria Provided
Multiple Submitters
No Conflicts

CA364632418

rs_1331645027

3 SubmittersRCV001306759 RCV005408821 RCV005038052

NM_001001557.4(GDF6):c.536C>A (p.Pro179Gln)

SNV
Germline

Chr8:96145395

Conflicting classifications of pathogenicity

Isolated microphthalmia 4
Microphthalmia, isolated, with coloboma 6
Leber congenital amaurosis 17
Klippel-Feil syndrome 1, autosomal dominant
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA371752471

rs_1444302456

2 SubmittersRCV001298384 RCV004629541

NM_201253.3(CRB1):c.1910C>T (p.Pro637Leu)

SNV
Germline

Chr1:197421738

Conflicting classifications of pathogenicity

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Condition: not provided
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy

Criteria Provided
Conflicting Classifications

CA344032886

rs_1238001290

3 SubmittersRCV001322219 RCV001760407 RCV003449921 RCV003449922 RCV003449923

NM_201253.3(CRB1):c.2033G>A (p.Ser678Asn)

SNV
Germline

Chr1:197421861

Conflicting classifications of pathogenicity

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1312021

rs_139463596

3 SubmittersRCV001325558 RCV001831005 RCV003166908

NM_201253.3(CRB1):c.2223G>A (p.Met741Ile)

SNV
Germline

Chr1:197427548

Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA344036700

rs_1664649489

1 SubmittersRCV001327036

NM_201253.3(CRB1):c.2815T>C (p.Cys939Arg)

SNV
Germline

Chr1:197429587

Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344041301

rs_1664775504

1 SubmittersRCV001316680

NM_201253.3(CRB1):c.3853T>C (p.Cys1285Arg)

SNV
Germline

Chr1:197438650

Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis

Criteria Provided
Single Submitter

CA344050986

rs_1665279918

2 SubmittersRCV001323343 RCV005614520

NM_000554.6(CRX):c.263A>G (p.Lys88Arg)

SNV
Germline

Chr19:47839330

Conflicting classifications of pathogenicity

Leber congenital amaurosis 7
Cone-rod dystrophy 2
Retinitis pigmentosa
Cone-rod dystrophy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA309212205

rs_1001151383

4 SubmittersRCV001320521 RCV001587340 RCV003447588 RCV001532383

NM_201253.3(CRB1):c.1522T>C (p.Cys508Arg)

SNV
Germline

Chr1:197421350

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344031292

rs_1664303657

1 SubmittersRCV001343048

NM_201253.3(CRB1):c.3686G>C (p.Cys1229Ser)

SNV
Germline

Chr1:197435549

Pathogenic/Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12
CRB1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA35907997

rs_1031415706

4 SubmittersRCV001350386 RCV003473873 RCV005005862 RCV004740672

NM_022787.4(NMNAT1):c.547C>T (p.Leu183Phe)

SNV
Germline

Chr1:9982408

Conflicting classifications of pathogenicity

Leber congenital amaurosis 9
Condition: not provided

Criteria Provided
Conflicting Classifications

CA338686682

rs_1337014971

2 SubmittersRCV001340858 RCV003132433

NM_003322.6(TULP1):c.1087G>A (p.Gly363Arg)

SNV
Germline

Chr6:35505766

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 14
Leber congenital amaurosis

Criteria Provided
Conflicting Classifications

CA363779654

rs_1761067394

4 SubmittersRCV001346724 RCV001376325 RCV004699323

NM_152443.3(RDH12):c.146C>A (p.Thr49Lys)

SNV
Germline

Chr14:67724550

Pathogenic/Likely pathogenic

Leber congenital amaurosis 13

Criteria Provided
Multiple Submitters
No Conflicts

CA7238613

rs_28940314

3 SubmittersRCV001340739

NM_000554.6(CRX):c.22G>C (p.Gly8Arg)

SNV
Germline

Chr19:47834465

Conflicting classifications of pathogenicity

Leber congenital amaurosis 7
Cone-rod dystrophy 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9544366

rs_146240568

2 SubmittersRCV001345352 RCV005540401

NM_000554.6(CRX):c.426C>A (p.Tyr142Ter)

SNV
Germline

Chr19:47839493

Pathogenic

Leber congenital amaurosis 7
Cone-rod dystrophy 2

Criteria Provided
Single Submitter

CA406630627

rs_1968164899

1 SubmittersRCV001341159

NM_201253.3(CRB1):c.2687G>C (p.Cys896Ser)

SNV
Unknown

Chr1:197429459

Likely pathogenic

Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344040382

rs_1571544334

1 SubmittersRCV001352987

NM_000180.4(GUCY2D):c.929C>A (p.Thr310Asn)

SNV
Unknown

Chr17:8004059

Likely pathogenic

Leber congenital amaurosis 1

Criteria Provided
Single Submitter

CA397945993

rs_1975693830

1 SubmittersRCV001352963

NM_022787.4(NMNAT1):c.439+5G>T

SNV
Germline

Chr1:9981175

Pathogenic

Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis

No Assertion Criteria Provided

CA2499214910

rs_1641939445

1 SubmittersRCV001358654

NM_201253.3(CRB1):c.2927T>C (p.Ile976Thr)

SNV
Germline

Chr1:197434790

Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA344043666

rs_2125498956

1 SubmittersRCV001359699

NM_201253.3(CRB1):c.2980A>G (p.Lys994Glu)

SNV
Germline

Chr1:197434843

Conflicting classifications of pathogenicity

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Cone-rod dystrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy

Criteria Provided
Conflicting Classifications

CA344044254

rs_2125499116

3 SubmittersRCV001360674 RCV003324562 RCV003450009 RCV003450008 RCV003450010

NM_018418.5(SPATA7):c.323G>A (p.Arg108Gln)

SNV
Germline

Chr14:88416795

Conflicting classifications of pathogenicity

Leber congenital amaurosis 3
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7298495

rs_370110205

2 SubmittersRCV001366980 RCV004036991

NM_018418.5(SPATA7):c.929C>T (p.Thr310Ile)

SNV
Germline

Chr14:88429364

Conflicting classifications of pathogenicity

Leber congenital amaurosis 3
Inborn genetic diseases
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA7298652

rs_767454994

3 SubmittersRCV001373685 RCV003365371 RCV003888074

NM_000180.4(GUCY2D):c.835G>A (p.Asp279Asn)

SNV
Germline

Chr17:8003965

Conflicting classifications of pathogenicity

Cone-rod dystrophy 6
Leber congenital amaurosis 1
Leber congenital amaurosis 1
not specified

Criteria Provided
Conflicting Classifications

CA397945537

rs_1478566225

3 SubmittersRCV001360598 RCV002250753 RCV005236832

NM_022787.4(NMNAT1):c.500A>G (p.Asn167Ser)

SNV
Germline

Chr1:9982361

Pathogenic/Likely pathogenic

Leber congenital amaurosis 9
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA338686550

rs_1405020783

3 SubmittersRCV001372427 RCV001780269

NM_022787.4(NMNAT1):c.245T>C (p.Val82Ala)

SNV
Germline

Chr1:9975721

Likely pathogenic

Leber congenital amaurosis 9
Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis

Criteria Provided
Single Submitter

CA18234679

rs_986437232

2 SubmittersRCV001372430 RCV003339625

NM_201253.3(CRB1):c.1922G>C (p.Gly641Ala)

SNV
Germline

Chr1:197421750

Conflicting classifications of pathogenicity

Retinitis pigmentosa 12
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Conflicting Classifications

CA344032908

rs_2125471502

2 SubmittersRCV001376384 RCV001865898

NM_003322.6(TULP1):c.932G>A (p.Arg311Gln)

SNV
Germline

Chr6:35506070

Pathogenic/Likely pathogenic

Retinitis pigmentosa 14
Condition: not provided
TULP1-related disorder
Retinitis pigmentosa 14
Leber congenital amaurosis 15

Criteria Provided
Multiple Submitters
No Conflicts

CA363780228

rs_1279906432

4 SubmittersRCV001376468 RCV001865902 RCV004531183 RCV005038158

NM_003322.6(TULP1):c.187G>T (p.Gly63Ter)

SNV
Germline

Chr6:35512183

Pathogenic

Retinitis pigmentosa 14
Condition: not provided
TULP1-related disorder
Retinitis pigmentosa 14
Leber congenital amaurosis 15

Criteria Provided
Multiple Submitters
No Conflicts

CA3773004

rs_757725696

4 SubmittersRCV001376483 RCV003771221 RCV004531184 RCV005038159

NM_025114.4(CEP290):c.1523-412C>T

SNV
Germline

Chr12:88119155

Likely pathogenic

Leber congenital amaurosis 10

Criteria Provided
Single Submitter

CA606449808

rs_1381940328

1 SubmittersRCV001376368

NM_020366.4(RPGRIP1):c.772G>T (p.Glu258Ter)

SNV
Germline

Chr14:21303515

Likely pathogenic

Leber congenital amaurosis 6

Criteria Provided
Single Submitter

CA388860881

rs_2139160690

1 SubmittersRCV001376537

NM_152443.3(RDH12):c.193C>T (p.Arg65Ter)

SNV
Germline

Chr14:67725104

Pathogenic/Likely pathogenic

Leber congenital amaurosis 13
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA7238643

rs_778571042

4 SubmittersRCV001376377 RCV005057345

NM_201253.3(CRB1):c.71-2A>G

SNV
Germline

Chr1:197328420

Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA344084945

rs_1383691293

3 SubmittersRCV001379038 RCV001831365 RCV003473913

NM_201253.3(CRB1):c.849-2A>G

SNV
Germline

Chr1:197347338

Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA36048735

rs_988534225

2 SubmittersRCV001378415 RCV004570929

NM_201253.3(CRB1):c.1172-2A>G

SNV
Germline

Chr1:197420998

Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA344027934

rs_2125468772

2 SubmittersRCV001377494 RCV004570924

NM_201253.3(CRB1):c.1172-1G>T

SNV
Germline

Chr1:197420999

Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344027945

rs_2125468776

1 SubmittersRCV001379001

NM_201253.3(CRB1):c.1349G>A (p.Cys450Tyr)

SNV
Germline

Chr1:197421177

Pathogenic/Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinal dystrophy
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA1311910

rs_746597173

3 SubmittersRCV001379460 RCV005432698 RCV005614530

NM_201253.3(CRB1):c.1439G>C (p.Cys480Ser)

SNV
Germline

Chr1:197421267

Pathogenic/Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Multiple Submitters
No Conflicts

CA344030908

rs_62636265

2 SubmittersRCV001378739 RCV004789562

NM_201253.3(CRB1):c.1690G>A (p.Asp564Asn)

SNV
Germline

Chr1:197421518

Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA1311958

rs_757279881

1 SubmittersRCV001377887

NM_201253.3(CRB1):c.2105A>G (p.Tyr702Cys)

SNV
Germline

Chr1:197421933

Pathogenic/Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA344034221

rs_1180527322

3 SubmittersRCV001377318 RCV003473900 RCV004699350

NM_201253.3(CRB1):c.2128+1G>C

SNV
Germline

Chr1:197421957

Pathogenic/Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA344034340

rs_2125472205

2 SubmittersRCV001379356 RCV003473917

NM_201253.3(CRB1):c.2537G>A (p.Gly846Glu)

SNV
Germline

Chr1:197427862

Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA1312135

rs_772476137

1 SubmittersRCV001378912

NM_201253.3(CRB1):c.3493T>C (p.Cys1165Arg)

SNV
Germline

Chr1:197435356

Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA1312346

rs_767368951

2 SubmittersRCV001378741 RCV005235577

NM_201253.3(CRB1):c.4006-1G>C

SNV
Germline

Chr1:197477663

Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344035368

rs_752804194

1 SubmittersRCV001376938

NM_000329.3(RPE65):c.1243+1G>A

SNV
Germline

Chr1:68431470

Likely pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA340742782

rs_1421696563

2 SubmittersRCV001378085 RCV005001218

NM_000329.3(RPE65):c.496-1G>A

SNV
Germline

Chr1:68441001

Pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA340747238

rs_2100821984

2 SubmittersRCV001379142 RCV003462960

NM_000329.3(RPE65):c.354-1G>A

SNV
Germline

Chr1:68444673

Likely pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis

Criteria Provided
Single Submitter

CA340748038

rs_2100827985

2 SubmittersRCV001377276 RCV001826126

NM_000329.3(RPE65):c.344T>C (p.Ile115Thr)

SNV
Germline

Chr1:68444785

Conflicting classifications of pathogenicity

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA340748119

rs_1645929674

4 SubmittersRCV001377673 RCV003469629 RCV004596449 RCV005237765

NM_000329.3(RPE65):c.3G>A (p.Met1Ile)

SNV
Germline

Chr1:68449903

Pathogenic/Likely pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA340750383

rs_1357241537

2 SubmittersRCV001379122 RCV004801002

NM_001122769.3(LCA5):c.859-2A>G

SNV
Germline

Chr6:79492649

Likely pathogenic

Condition: not provided
Leber congenital amaurosis 5

Criteria Provided
Multiple Submitters
No Conflicts

CA3900993

rs_757681601

3 SubmittersRCV001379070 RCV001826147

NM_025114.4(CEP290):c.6357+1G>A

SNV
Germline

Chr12:88062691

Likely pathogenic

Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Joubert syndrome 5
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6

Criteria Provided
Multiple Submitters
No Conflicts

CA385979054

rs_1196938557

2 SubmittersRCV001378757 RCV005005228

NM_025114.4(CEP290):c.5586+1G>T

SNV
Germline

Chr12:88077696

Likely pathogenic

Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Joubert syndrome 5
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6

Criteria Provided
Multiple Submitters
No Conflicts

CA385987996

rs_2035880971

2 SubmittersRCV001377792 RCV005005225

NM_152443.3(RDH12):c.188-1G>A

SNV
Germline

Chr14:67725098

Likely pathogenic

Leber congenital amaurosis 13
Leber congenital amaurosis

Criteria Provided
Single Submitter

CA390148467

rs_2140142183

2 SubmittersRCV001377548 RCV001831344

NM_152443.3(RDH12):c.278T>C (p.Leu93Pro)

SNV
Germline

Chr14:67725189

Pathogenic/Likely pathogenic

Leber congenital amaurosis 13
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA7238658

rs_527800020

7 SubmittersRCV001378468 RCV001836387

NM_000180.4(GUCY2D):c.1749+1G>A

SNV
Germline

Chr17:8009587

Likely pathogenic

Cone-rod dystrophy 6
Leber congenital amaurosis 1

Criteria Provided
Single Submitter

CA397950597

rs_2151801563

1 SubmittersRCV001377390

NM_201253.3(CRB1):c.653-1G>A

SNV
Germline

Chr1:197344280

Pathogenic/Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA344082989

rs_760287363

5 SubmittersRCV001380026 RCV001587386 RCV003319471

NM_201253.3(CRB1):c.718C>T (p.Gln240Ter)

SNV
Germline

Chr1:197344346

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344083247

rs_2125328350

1 SubmittersRCV001387134

NM_201253.3(CRB1):c.1651C>T (p.Gln551Ter)

SNV
Germline

Chr1:197421479

Pathogenic/Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA1311947

rs_768107603

3 SubmittersRCV001386224 RCV003473963 RCV005005919

NM_201253.3(CRB1):c.1700G>A (p.Trp567Ter)

SNV
Germline

Chr1:197421528

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344032149

rs_2125470583

1 SubmittersRCV001387606

NM_201253.3(CRB1):c.1831T>C (p.Ser611Pro)

SNV
Germline

Chr1:197421659

Pathogenic/Likely pathogenic

Leber congenital amaurosis
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA1311991

rs_769909288

5 SubmittersRCV001831405 RCV001390796 RCV003451695 RCV002488213 RCV003451693 RCV003451694

NM_201253.3(CRB1):c.2718G>A (p.Trp906Ter)

SNV
Germline

Chr1:197429490

Pathogenic/Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA344040512

rs_2125488868

2 SubmittersRCV001382300 RCV003473939

NM_201253.3(CRB1):c.2767G>T (p.Glu923Ter)

SNV
Germline

Chr1:197429539

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344040942

rs_2125489019

1 SubmittersRCV001382442

NM_201253.3(CRB1):c.2818C>T (p.Gln940Ter)

SNV
Germline

Chr1:197429590

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344041314

rs_2125489182

1 SubmittersRCV001385188

NM_201253.3(CRB1):c.3958C>T (p.Gln1320Ter)

SNV
Germline

Chr1:197442245

Pathogenic/Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA344052620

rs_1246546027

2 SubmittersRCV001384585 RCV003473953

NM_201253.3(CRB1):c.4005+1G>C

SNV
Germline

Chr1:197442293

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344052782

rs_890453675

1 SubmittersRCV001387814

NM_201253.3(CRB1):c.4006-1G>T

SNV
Germline

Chr1:197477663

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA344035365

rs_752804194

4 SubmittersRCV001390944 RCV002499822 RCV003446739 RCV003446738 RCV003446740

NM_000329.3(RPE65):c.1409C>T (p.Pro470Leu)

SNV
Germline

Chr1:68431106

Pathogenic/Likely pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Condition: not provided
Leber congenital amaurosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA340741897

rs_774211361

3 SubmittersRCV001383020 RCV003128763 RCV003469687

NM_000329.3(RPE65):c.1399C>G (p.Pro467Ala)

SNV
Germline

Chr1:68431116

Pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA340741972

rs_1395763356

3 SubmittersRCV001381888 RCV003469666 RCV003771239

NM_000329.3(RPE65):c.1028T>G (p.Leu343Ter)

SNV
Germline

Chr1:68438287

Pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20

Criteria Provided
Single Submitter

CA340744362

rs_2100817136

1 SubmittersRCV001384746

NM_000329.3(RPE65):c.912C>G (p.Tyr304Ter)

SNV
Germline

Chr1:68439028

Pathogenic/Likely pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA340744922

rs_2100818575

2 SubmittersRCV001382384 RCV003469676

NM_000329.3(RPE65):c.637C>T (p.Gln213Ter)

SNV
Germline

Chr1:68440859

Pathogenic/Likely pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA340746765

rs_777966849

2 SubmittersRCV001389735 RCV003469763

NM_000329.3(RPE65):c.545A>G (p.His182Arg)

SNV
Germline

Chr1:68440951

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2
RPE65-related recessive retinopathy
Leber congenital amaurosis 2

Reviewed By Expert Panel

CA340747132

rs_1459110114

3 SubmittersRCV001388256 RCV004527424 RCV003469740

NM_000329.3(RPE65):c.200T>G (p.Leu67Arg)

SNV
Germline

Chr1:68446755

Pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2
RPE65-related recessive retinopathy
Leber congenital amaurosis

Reviewed By Expert Panel

CA340749010

rs_1344724754

4 SubmittersRCV001380404 RCV003469648 RCV003771233 RCV005606818

NM_000329.3(RPE65):c.94G>T (p.Gly32Cys)

SNV
Germline

Chr1:68448624

Pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis
Leber congenital amaurosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA902623

rs_768448761

3 SubmittersRCV001380405 RCV001826156 RCV003469649

NM_003322.6(TULP1):c.1255C>T (p.Arg419Trp)

SNV
Germline

Chr6:35503627

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 14
Leber congenital amaurosis 15

Criteria Provided
Multiple Submitters
No Conflicts

CA363779166

rs_775334320

4 SubmittersRCV001380965 RCV003888081 RCV005038176

NM_001122769.3(LCA5):c.1378G>T (p.Glu460Ter)

SNV
Germline

Chr6:79487720

Pathogenic/Likely pathogenic

Condition: not provided
Leber congenital amaurosis 5

Criteria Provided
Multiple Submitters
No Conflicts

CA364641029

rs_2127665995

2 SubmittersRCV001386063 RCV003469717

NM_001122769.3(LCA5):c.652C>T (p.Arg218Ter)

SNV
Germline

Chr6:79513280

Pathogenic/Likely pathogenic

Condition: not provided
Leber congenital amaurosis 5

Criteria Provided
Multiple Submitters
No Conflicts

CA364628399

rs_1318750068

3 SubmittersRCV001380668 RCV003469653

NM_025114.4(CEP290):c.7324G>T (p.Glu2442Ter)

SNV
Germline

Chr12:88049300

Pathogenic/Likely pathogenic

Nephronophthisis
Joubert syndrome
Meckel-Gruber syndrome
Leber congenital amaurosis
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Joubert syndrome 5
Leber congenital amaurosis 10
Meckel syndrome, type 4

Criteria Provided
Multiple Submitters
No Conflicts

CA385972484

rs_1374014119

3 SubmittersRCV001384498 RCV005614538 RCV002493927

NM_025114.4(CEP290):c.5941G>T (p.Glu1981Ter)

SNV
Germline

Chr12:88071364

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4
Joubert syndrome 5
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6

Criteria Provided
Multiple Submitters
No Conflicts

CA6711612

rs_767426153

3 SubmittersRCV001388961 RCV003469749 RCV005005926

NM_025114.4(CEP290):c.4090G>T (p.Glu1364Ter)

SNV
Germline

Chr12:88087884

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Leber congenital amaurosis 10
Meckel syndrome, type 4
Joubert syndrome 5
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Condition: not provided
CEP290-related disorder
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA385999234

rs_779645669

5 SubmittersRCV001381486 RCV002476720 RCV003156344 RCV004733280 RCV001836389

NM_025114.4(CEP290):c.1060C>T (p.Gln354Ter)

SNV
Germline

Chr12:88126321

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Leber congenital amaurosis 10
Meckel syndrome, type 4
Joubert syndrome 5
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Meckel syndrome, type 4
Joubert syndrome 5
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA385982588

rs_2138021345

4 SubmittersRCV001386120 RCV005005236 RCV005409820 RCV003469719

NM_020366.4(RPGRIP1):c.313C>T (p.Gln105Ter)

SNV
Germline

Chr14:21301060

Pathogenic

Cone-rod dystrophy 13
Leber congenital amaurosis 6

Criteria Provided
Single Submitter

CA388858721

rs_2139156519

1 SubmittersRCV001388371

NM_152443.3(RDH12):c.226G>C (p.Gly76Arg)

SNV
Germline

Chr14:67725137

Pathogenic/Likely pathogenic

Leber congenital amaurosis 13
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA262808726

rs_368489658

5 SubmittersRCV001387782 RCV001831398

NM_152443.3(RDH12):c.393T>A (p.Cys131Ter)

SNV
Germline

Chr14:67726100

Pathogenic

Leber congenital amaurosis 13

Criteria Provided
Single Submitter

CA7238696

rs_755621140

1 SubmittersRCV001384303

NM_152443.3(RDH12):c.524C>A (p.Ser175Ter)

SNV
Germline

Chr14:67727056

Pathogenic

Leber congenital amaurosis 13

Criteria Provided
Single Submitter

CA390150899

rs_116733939

1 SubmittersRCV001390024

NM_152443.3(RDH12):c.823G>T (p.Glu275Ter)

SNV
Germline

Chr14:67729355

Pathogenic

Leber congenital amaurosis 13

Criteria Provided
Single Submitter

CA7238823

rs_755909719

1 SubmittersRCV001385535

NM_018418.5(SPATA7):c.1210G>T (p.Glu404Ter)

SNV
Germline

Chr14:88437592

Pathogenic

Leber congenital amaurosis 3

Criteria Provided
Single Submitter

CA390570729

rs_749304751

1 SubmittersRCV001384811

NM_000180.4(GUCY2D):c.2383C>T (p.Arg795Trp)

SNV
Germline

Chr17:8013999

Pathogenic

Leber congenital amaurosis 1
Cone-rod dystrophy 6

Criteria Provided
Single Submitter

CA8366102

rs_765910207

1 SubmittersRCV001383052

NM_000180.4(GUCY2D):c.2476C>T (p.Gln826Ter)

SNV
Germline

Chr17:8014664

Pathogenic

Cone-rod dystrophy 6
Leber congenital amaurosis 1
Cone-rod dystrophy 6
Choroidal dystrophy, central areolar, 1
Leber congenital amaurosis 1
Night blindness, congenital stationary, type1i

Criteria Provided
Multiple Submitters
No Conflicts

CA397953521

rs_1338490917

2 SubmittersRCV001383053 RCV005014526

NM_000180.4(GUCY2D):c.2646C>G (p.Tyr882Ter)

SNV
Germline

Chr17:8014928

Pathogenic

Cone-rod dystrophy 6
Leber congenital amaurosis 1
Cone-rod dystrophy 6
Choroidal dystrophy, central areolar, 1
Leber congenital amaurosis 1
Night blindness, congenital stationary, type1i

Criteria Provided
Multiple Submitters
No Conflicts

CA397954008

rs_1567961697

2 SubmittersRCV001388269 RCV005014543

NM_000180.4(GUCY2D):c.3105C>G (p.Tyr1035Ter)

SNV
Germline

Chr17:8015988

Pathogenic

Cone-rod dystrophy 6
Leber congenital amaurosis 1

Criteria Provided
Single Submitter

CA397955752

rs_1975964112

1 SubmittersRCV001389184

NM_020366.4(RPGRIP1):c.2725A>G (p.Thr909Ala)

SNV
Germline

Chr14:21327637

Conflicting classifications of pathogenicity

Cone-rod dystrophy 13
Leber congenital amaurosis 6
not specified

Criteria Provided
Conflicting Classifications

CA7089338

rs_759254680

3 SubmittersRCV001394898 RCV001581116

NM_000180.4(GUCY2D):c.488C>T (p.Pro163Leu)

SNV
Germline

Chr17:8003535

Conflicting classifications of pathogenicity

Cone-rod dystrophy 6
Leber congenital amaurosis 1
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8365499

rs_200586401

3 SubmittersRCV001397931 RCV001762668 RCV005348498

NM_025114.4(CEP290):c.5129C>T (p.Ala1710Val)

SNV
Germline

Chr12:88080279

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
CEP290-related disorder
Meckel syndrome, type 4
Joubert syndrome 5
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Leber congenital amaurosis 10

Criteria Provided
Conflicting Classifications

CA6711788

rs_754184488

3 SubmittersRCV001462219 RCV004528501 RCV005005248

NM_020366.4(RPGRIP1):c.2644C>T (p.Pro882Ser)

SNV
Germline

Chr14:21326107

Conflicting classifications of pathogenicity

Cone-rod dystrophy 13
Leber congenital amaurosis 6
Leber congenital amaurosis 6
Cone-rod dystrophy 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7089309

rs_200657688

3 SubmittersRCV001473685 RCV001800997 RCV001800998 RCV001751769

NM_000883.4(IMPDH1):c.218G>A (p.Gly73Asp)

SNV
Germline

Chr7:128409325

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 10
Leber congenital amaurosis 11

Criteria Provided
Conflicting Classifications

CA4471235

rs_139979391

3 SubmittersRCV001486627 RCV005395037

NM_020366.4(RPGRIP1):c.3448G>T (p.Asp1150Tyr)

SNV
Germline

Chr14:21343144

Conflicting classifications of pathogenicity

Cone-rod dystrophy 13
Cone-rod dystrophy 13
Leber congenital amaurosis 6
Condition: not provided
Leber congenital amaurosis 6

Criteria Provided
Conflicting Classifications

CA7089516

rs_144704092

3 SubmittersRCV001801002 RCV001491398 RCV001773756 RCV001801001

NM_004744.5(LRAT):c.224C>T (p.Pro75Leu)

SNV
Germline

Chr4:154744550

Conflicting classifications of pathogenicity

Leber congenital amaurosis 14
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA3115838

rs_766279892

3 SubmittersRCV001526724 RCV002568846 RCV005057484

NM_004744.5(LRAT):c.504C>A (p.Cys168Ter)

SNV
Germline

Chr4:154744830

Pathogenic

Leber congenital amaurosis 14
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA3115884

rs_780578479

2 SubmittersRCV001526725 RCV002568132

NM_025114.4(CEP290):c.3085G>T (p.Glu1029Ter)

SNV
Unknown

Chr12:88096906

Likely pathogenic

Leber congenital amaurosis 10
Bardet-Biedl syndrome 14
Joubert syndrome 5
Meckel syndrome, type 4
Senior-Loken syndrome 6

Criteria Provided
Single Submitter

CA386006874

rs_2137423759

1 SubmittersRCV001535856

NM_000180.4(GUCY2D):c.2872A>C (p.Ser958Arg)

SNV
Germline

Chr17:8015430

Likely pathogenic

Leber congenital amaurosis 1

No Assertion Criteria Provided

CA397954695

rs_2151803661

1 SubmittersRCV001542699

NM_000180.4(GUCY2D):c.3043+5G>A

SNV
Germline

Chr17:8015846

Likely pathogenic

Leber congenital amaurosis 1

No Assertion Criteria Provided

CA287534244

rs_751822337

1 SubmittersRCV001542793

NM_025114.4(CEP290):c.712G>T (p.Glu238Ter)

SNV
Germline

Chr12:88129834

Pathogenic

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Joubert syndrome 5
Bardet-Biedl syndrome 14
CEP290-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA385985714

rs_2138086844

5 SubmittersRCV001544696 RCV001882615 RCV002495869 RCV003470860 RCV004782757

NM_201253.3(CRB1):c.2340C>T (p.Pro780=)

SNV
Germline

Chr1:197427665

Conflicting classifications of pathogenicity

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Conflicting Classifications

CA422809197

rs_2125484301

2 SubmittersRCV001563883 RCV001563882 RCV002072150

NM_201253.3(CRB1):c.70+1G>T

SNV
Germline

Chr1:197268483

Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA344082566

rs_1237424465

1 SubmittersRCV001580687 RCV001580686

NM_000180.4(GUCY2D):c.1567-1G>C

SNV
Germline

Chr17:8007930

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Autosomal recessive optic atrophy
Cone-rod dystrophy 6
Leber congenital amaurosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA397949515

rs_2151801050

2 SubmittersRCV001591784 RCV003389497 RCV003771780

NM_001023570.4(IQCB1):c.1194G>A (p.Trp398Ter)

SNV
Germline

Chr3:121788368

Pathogenic

Leber congenital amaurosis

Criteria Provided
Single Submitter

CA354115668

rs_1948821736

1 SubmittersRCV001591797

NM_152443.3(RDH12):c.148G>A (p.Gly50Ser)

SNV
Germline

Chr14:67724552

Conflicting classifications of pathogenicity

Leber congenital amaurosis 13
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA390148105

rs_2140141345

3 SubmittersRCV001866151 RCV001591830

NM_152443.3(RDH12):c.616G>A (p.Ala206Thr)

SNV
Germline

Chr14:67727148

Pathogenic/Likely pathogenic

Macular dystrophy
Leber congenital amaurosis 13

Criteria Provided
Single Submitter

CA390151512

rs_2140145599

1 SubmittersRCV001591831 RCV003389498

NM_152443.3(RDH12):c.667G>T (p.Val223Phe)

SNV
Germline

Chr14:67729199

Conflicting classifications of pathogenicity

Leber congenital amaurosis
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA7238790

rs_370015375

2 SubmittersRCV003399392 RCV001591833

NM_000329.3(RPE65):c.143G>A (p.Gly48Glu)

SNV
Germline

Chr1:68446812

Likely pathogenic

Leber congenital amaurosis 2
RPE65-related recessive retinopathy
Leber congenital amaurosis
Retinitis pigmentosa 87 with choroidal involvement
Retinitis pigmentosa 20
Leber congenital amaurosis 2

Reviewed By Expert Panel

CA340749160

rs_2100831413

4 SubmittersRCV001591854 RCV003771781 RCV004690118 RCV005038270

NM_000329.3(RPE65):c.693C>A (p.Cys231Ter)

SNV
Germline

Chr1:68439593

Pathogenic

Leber congenital amaurosis 2

Criteria Provided
Single Submitter

CA340745977

rs_2100819756

1 SubmittersRCV001591855

NM_014336.5(AIPL1):c.643-2A>T

SNV
Germline

Chr17:6426758

Pathogenic

Leber congenital amaurosis 4

Criteria Provided
Single Submitter

CA397395319

rs_2150677132

1 SubmittersRCV001591896

NM_001378454.1(ALMS1):c.10816C>T (p.Arg3606Trp)

SNV
Germline

Chr2:73572693

Pathogenic

Leber congenital amaurosis
Alstrom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA347285669

rs_1250097723

2 SubmittersRCV001591899 RCV001866158

NM_001378454.1(ALMS1):c.8725C>T (p.Gln2909Ter)

SNV
Germline

Chr2:73490684

Pathogenic

Leber congenital amaurosis

Criteria Provided
Single Submitter

CA347270264

rs_1188328539

1 SubmittersRCV001591902

NM_025114.4(CEP290):c.4682G>A (p.Arg1561His)

SNV
Germline

Chr12:88084608

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Leber congenital amaurosis
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
CEP290-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6711892

rs_371157150

6 SubmittersRCV001652983 RCV002266008 RCV001827558 RCV002539602 RCV004528526 RCV005308494

NM_000329.3(RPE65):c.93A>G (p.Thr31=)

SNV
Germline

Chr1:68448625

Likely pathogenic

Leber congenital amaurosis 2

Criteria Provided
Single Submitter

CA418284162

rs_2100834154

2 SubmittersRCV001682631

NM_025114.4(CEP290):c.4705-2A>C

SNV
Germline

Chr12:88083956

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Leber congenital amaurosis 10
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA385994211

rs_2137170380

2 SubmittersRCV001724852 RCV002227536 RCV001859437

NM_201253.3(CRB1):c.1844G>A (p.Gly615Asp)

SNV
Germline

Chr1:197421672

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Conflicting Classifications

CA1311994

rs_768905244

2 SubmittersRCV001724857 RCV002539742

NM_201253.3(CRB1):c.3881G>A (p.Cys1294Tyr)

SNV
Germline

Chr1:197442168

Pathogenic/Likely pathogenic

Cone-rod dystrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Multiple Submitters
No Conflicts

CA1312440

rs_754575460

2 SubmittersRCV001725800 RCV002539755

NM_152443.3(RDH12):c.698T>A (p.Val233Asp)

SNV
Germline

Chr14:67729230

Pathogenic

Leber congenital amaurosis

Criteria Provided
Single Submitter

CA7238795

rs_144148976

1 SubmittersRCV001733411

NM_201253.3(CRB1):c.997G>C (p.Gly333Arg)

SNV
Germline

Chr1:197356839

Pathogenic/Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA1311780

rs_778232235

3 SubmittersRCV001733784 RCV001861045 RCV003451871

NM_014336.5(AIPL1):c.465+1G>A

SNV
Germline

Chr17:6428317

Likely pathogenic

Condition: not provided
Leber congenital amaurosis 4

Criteria Provided
Multiple Submitters
No Conflicts

CA287325547

rs_887335730

2 SubmittersRCV001756610 RCV001861049

NM_201253.3(CRB1):c.3091G>A (p.Asp1031Asn)

SNV
Germline

Chr1:197434954

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Conflicting Classifications

CA344045388

rs_2125499421

2 SubmittersRCV001752298 RCV002539930

NM_201253.3(CRB1):c.3221T>C (p.Leu1074Ser)

SNV
Germline

Chr1:197435084

Pathogenic

Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA1312295

rs_751303205

2 SubmittersRCV001771820 RCV001885124

NM_000329.3(RPE65):c.1451-1G>A

SNV
Germline

Chr1:68429928

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA340741548

rs_1317871521

5 SubmittersRCV001775532 RCV003120686 RCV003470896 RCV004527431

NM_001122769.3(LCA5):c.1062C>A (p.Tyr354Ter)

SNV
Germline

Chr6:79491624

Pathogenic

Leber congenital amaurosis 5
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA364643749

rs_183261547

2 SubmittersRCV001783596 RCV003560845

NM_152443.3(RDH12):c.449-1G>A

SNV
Germline

Chr14:67726980

Likely pathogenic

Leber congenital amaurosis 13

Criteria Provided
Single Submitter

CA390150474

rs_2140145142

1 SubmittersRCV001783675

NM_201253.3(CRB1):c.2540T>C (p.Phe847Ser)

SNV
Germline

Chr1:197427865

Likely pathogenic

Leber congenital amaurosis 8

No Assertion Criteria Provided

CA35901083

rs_758723407

1 SubmittersRCV001787307

NM_025114.4(CEP290):c.7198C>T (p.Gln2400Ter)

SNV
Germline

Chr12:88050365

Pathogenic/Likely pathogenic

CEP290-related disorder
Leber congenital amaurosis 10
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Joubert syndrome 5
Bardet-Biedl syndrome 14
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA385973620

rs_1478582091

4 SubmittersRCV001825112 RCV002503334 RCV003470936 RCV002545200

NM_006088.6(TUBB4B):c.1072C>T (p.Pro358Ser)

SNV
Germline

Chr9:137243290

Conflicting classifications of pathogenicity

Leber congenital amaurosis with early-onset deafness
Condition: not provided

Criteria Provided
Conflicting Classifications

CA375755767

rs_2131435194

4 SubmittersRCV001837733 RCV003389263

NM_201253.3(CRB1):c.2159A>T (p.Asp720Val)

SNV
Germline

Chr1:197427484

Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA1312062

rs_766989894

1 SubmittersRCV002028701

NM_000180.4(GUCY2D):c.2260G>T (p.Glu754Ter)

SNV
Germline

Chr17:8013249

Pathogenic/Likely pathogenic

Cone-rod dystrophy 6
Leber congenital amaurosis 1
Choroidal dystrophy, central areolar, 1
Cone-rod dystrophy 6
Leber congenital amaurosis 1
Night blindness, congenital stationary, type1i

Criteria Provided
Multiple Submitters
No Conflicts

CA397953033

rs_747951577

2 SubmittersRCV001944799 RCV005014735

NM_201253.3(CRB1):c.3787A>T (p.Lys1263Ter)

SNV
Germline

Chr1:197438584

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344050814

rs_2125506218

1 SubmittersRCV001884818

NM_000329.3(RPE65):c.354-1G>T

SNV
Germline

Chr1:68444673

Likely pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20

Criteria Provided
Single Submitter

CA340748036

rs_2100827985

1 SubmittersRCV002004304

NM_020366.4(RPGRIP1):c.3617+1G>T

SNV
Germline

Chr14:21345198

Pathogenic

Cone-rod dystrophy 13
Leber congenital amaurosis 6

Criteria Provided
Single Submitter

CA7089566

rs_771116776

1 SubmittersRCV001931715

NM_025114.4(CEP290):c.2483+1G>A

SNV
Germline

Chr12:88109065

Likely pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome
Senior-Loken syndrome 6
Leber congenital amaurosis 10
Meckel syndrome, type 4
Joubert syndrome 5
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA385972465

rs_2137661795

2 SubmittersRCV002015044 RCV005002763

NM_000180.4(GUCY2D):c.2084A>G (p.Lys695Arg)

SNV
Germline

Chr17:8012577

Conflicting classifications of pathogenicity

Leber congenital amaurosis 1
Cone-rod dystrophy 6
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA397952564

rs_1237783733

2 SubmittersRCV002012798 RCV004976109

NM_152443.3(RDH12):c.659-2A>C

SNV
Germline

Chr14:67729189

Likely pathogenic

Leber congenital amaurosis 13

Criteria Provided
Single Submitter

CA390152853

rs_2038231425

1 SubmittersRCV002038789

NM_000329.3(RPE65):c.12-1G>C

SNV
Germline

Chr1:68448707

Likely pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA340750357

rs_1348031618

2 SubmittersRCV001963808 RCV004699598

NM_025114.4(CEP290):c.102+2T>G

SNV
Germline

Chr12:88141204

Likely pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Leber congenital amaurosis 10
Meckel syndrome, type 4
Joubert syndrome 5
Bardet-Biedl syndrome 14
CEP290-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA6712915

rs_763226787

5 SubmittersRCV002027685 RCV003471280 RCV002498073 RCV003226528

NM_201253.3(CRB1):c.716G>T (p.Cys239Phe)

SNV
Germline

Chr1:197344344

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344083243

rs_771079655

1 SubmittersRCV001881511

NM_201253.3(CRB1):c.107C>A (p.Ser36Ter)

SNV
Germline

Chr1:197328458

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA344085033

rs_2125303600

1 SubmittersRCV001928503

NM_020366.4(RPGRIP1):c.29G>A (p.Gly10Glu)

SNV
Germline

Chr14:21288005

Conflicting classifications of pathogenicity

Cone-rod dystrophy 13
Leber congenital amaurosis 6
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7088529

rs_756665749

2 SubmittersRCV001928593 RCV002556386

NM_201253.3(CRB1):c.1430G>T (p.Gly477Val)

SNV
Germline

Chr1:197421258

Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA344030877

rs_1277758473

1 SubmittersRCV001969116

NM_000329.3(RPE65):c.998+1G>A

SNV
Germline

Chr1:68438941

Pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA340744551

rs_1645879495

3 SubmittersRCV001993735 RCV003471214 RCV003773037

NM_000554.6(CRX):c.624T>G (p.Tyr208Ter)

SNV
Germline

Chr19:47839691

Pathogenic

Cone-rod dystrophy 2
Leber congenital amaurosis 7

Criteria Provided
Single Submitter

CA406631308

rs_2123743395

1 SubmittersRCV001991880

NM_201253.3(CRB1):c.3102G>A (p.Trp1034Ter)

SNV
Germline

Chr1:197434965

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA344045516

rs_2125499463

1 SubmittersRCV001904204

NM_000554.6(CRX):c.560C>T (p.Thr187Ile)

SNV
Germline

Chr19:47839627

Conflicting classifications of pathogenicity

Cone-rod dystrophy 2
Leber congenital amaurosis 7
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA9544516

rs_758125850

2 SubmittersRCV001905659 RCV003888379

NM_201253.3(CRB1):c.2082C>A (p.Tyr694Ter)

SNV
Germline

Chr1:197421910

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344034059

rs_2125472041

1 SubmittersRCV001978979

NM_000329.3(RPE65):c.432C>G (p.Tyr144Ter)

SNV
Germline

Chr1:68444594

Pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA340747768

rs_56021047

2 SubmittersRCV001999882 RCV004571710

NM_020366.4(RPGRIP1):c.1995T>A (p.Cys665Ter)

SNV
Germline

Chr14:21324850

Pathogenic

Cone-rod dystrophy 13
Leber congenital amaurosis 6

Criteria Provided
Single Submitter

CA388867509

rs_1225223445

1 SubmittersRCV001999910

NM_000554.6(CRX):c.774T>A (p.Tyr258Ter)

SNV
Germline

Chr19:47839841

Likely pathogenic

Leber congenital amaurosis 7
Cone-rod dystrophy 2

Criteria Provided
Single Submitter

CA406631763

rs_767273026

1 SubmittersRCV001985814

NM_020366.4(RPGRIP1):c.2099G>A (p.Arg700Gln)

SNV
Germline

Chr14:21324954

Conflicting classifications of pathogenicity

Cone-rod dystrophy 13
Leber congenital amaurosis 6
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7089154

rs_768190736

2 SubmittersRCV002040641 RCV004656838

NM_201253.3(CRB1):c.4137C>G (p.Tyr1379Ter)

SNV
Germline

Chr1:197477795

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA344035752

rs_1206810310

1 SubmittersRCV001941693

NM_201253.3(CRB1):c.358C>T (p.Gln120Ter)

SNV
Germline

Chr1:197328709

Pathogenic/Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA344085592

rs_1658671768

3 SubmittersRCV001936758 RCV003475192 RCV005006278

NM_201253.3(CRB1):c.2549G>T (p.Gly850Val)

SNV
Germline

Chr1:197427874

Pathogenic/Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA1312140

rs_757137398

3 SubmittersRCV001908346 RCV004571537 RCV005006160

NM_001164688.2(RD3):c.296+1G>T

SNV
Germline

Chr1:211481119

Pathogenic

Leber congenital amaurosis 12

Criteria Provided
Single Submitter

CA344879141

rs_386834260

1 SubmittersRCV001886727

NM_201253.3(CRB1):c.2497G>T (p.Gly833Cys)

SNV
Germline

Chr1:197427822

Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA344037794

rs_1664671663

1 SubmittersRCV001995245

NM_201253.3(CRB1):c.2549G>A (p.Gly850Asp)

SNV
Germline

Chr1:197427874

Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA35901098

rs_757137398

1 SubmittersRCV001973133

NM_000329.3(RPE65):c.1590C>A (p.Phe530Leu)

SNV
Germline

Chr1:68429788

Likely pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
RPE65-related recessive retinopathy
Leber congenital amaurosis 2

Reviewed By Expert Panel

CA340740550

rs_2100804954

3 SubmittersRCV001963988 RCV005253993 RCV003471217

NM_201253.3(CRB1):c.1348T>A (p.Cys450Ser)

SNV
Germline

Chr1:197421176

Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA344030486

rs_1664290387

2 SubmittersRCV001995121 RCV002250793

NM_201253.3(CRB1):c.2053G>A (p.Gly685Arg)

SNV
Germline

Chr1:197421881

Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA1312028

rs_779069205

1 SubmittersRCV002031648

NM_000329.3(RPE65):c.644-2A>C

SNV
Germline

Chr1:68439644

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

CA340746085

rs_61752891

1 SubmittersRCV001935730

NM_201253.3(CRB1):c.4209G>T (p.Glu1403Asp)

SNV
Germline

Chr1:197477867

Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA344036102

rs_1490587812

1 SubmittersRCV001975783

NM_152443.3(RDH12):c.68+1G>A

SNV
Germline

Chr14:67722711

Pathogenic

Leber congenital amaurosis 13
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA390146502

rs_2140138146

3 SubmittersRCV001964550 RCV003331233

NM_201253.3(CRB1):c.3361C>T (p.Gln1121Ter)

SNV
Germline

Chr1:197435224

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344047324

rs_2125500230

1 SubmittersRCV001954471

NM_201253.3(CRB1):c.2248G>A (p.Gly750Ser)

SNV
Germline

Chr1:197427573

Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA344036801

rs_2125483920

1 SubmittersRCV001977555

NM_000329.3(RPE65):c.725+2T>A

SNV
Germline

Chr1:68439559

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA340745901

rs_1355979496

2 SubmittersRCV001953857 RCV003471183

NM_000329.3(RPE65):c.493C>T (p.Gln165Ter)

SNV
Germline

Chr1:68444533

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA340747340

rs_1202384396

2 SubmittersRCV001953858 RCV003471184

NM_000329.3(RPE65):c.1399C>A (p.Pro467Thr)

SNV
Germline

Chr1:68431116

Likely pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20

Criteria Provided
Single Submitter

CA340741971

rs_1395763356

1 SubmittersRCV002030369

NM_201253.3(CRB1):c.515G>T (p.Cys172Phe)

SNV
Germline

Chr1:197328866

Conflicting classifications of pathogenicity

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Condition: not provided

Criteria Provided
Conflicting Classifications

CA344085938

rs_756931963

2 SubmittersRCV001964449 RCV005225552

NM_201253.3(CRB1):c.2249G>T (p.Gly750Val)

SNV
Germline

Chr1:197427574

Pathogenic/Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA344036811

rs_2125483925

3 SubmittersRCV001940368 RCV003452164 RCV003452165 RCV003238878

NM_000329.3(RPE65):c.1580A>G (p.His527Arg)

SNV
Germline

Chr1:68429798

Pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA340740585

rs_1194458561

3 SubmittersRCV001982688 RCV004571683 RCV004527438

NM_000180.4(GUCY2D):c.743C>G (p.Ser248Trp)

SNV
Germline

Chr17:8003873

Likely pathogenic

Cone-rod dystrophy 6
Leber congenital amaurosis 1
GUCY2D-related recessive retinopathy

Reviewed By Expert Panel

CA8365564

rs_138922415

2 SubmittersRCV001982693 RCV005053988

NM_025114.4(CEP290):c.1359+1G>A

SNV
Germline

Chr12:88120996

Likely pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome
Senior-Loken syndrome 6
Leber congenital amaurosis 10
Meckel syndrome, type 4
Joubert syndrome 5
Bardet-Biedl syndrome 14
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA241152412

rs_935130451

3 SubmittersRCV002017506 RCV002507780 RCV003471253

NM_201253.3(CRB1):c.1057G>T (p.Glu353Ter)

SNV
Germline

Chr1:197356899

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344084446

rs_2125354456

1 SubmittersRCV001943707

NM_201253.3(CRB1):c.1600A>G (p.Lys534Glu)

SNV
Germline

Chr1:197421428

Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344031642

rs_2125470125

1 SubmittersRCV002022710

NM_152443.3(RDH12):c.69-1G>A

SNV
Germline

Chr14:67724472

Likely pathogenic

Leber congenital amaurosis 13

Criteria Provided
Single Submitter

CA262808522

rs_373279009

1 SubmittersRCV002017204

NM_025114.4(CEP290):c.1623+2C>A

SNV
Germline

Chr12:88118641

Conflicting classifications of pathogenicity

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Joubert syndrome 5
Leber congenital amaurosis 10
Meckel syndrome, type 4
CEP290-related disorder
Meckel syndrome, type 4

Criteria Provided
Conflicting Classifications

CA385979091

rs_2039218006

4 SubmittersRCV001941065 RCV002484634 RCV004733422 RCV005406213

NM_022787.4(NMNAT1):c.115+1G>A

SNV
Germline

Chr1:9972189

Likely pathogenic

Leber congenital amaurosis 9

Criteria Provided
Single Submitter

CA338683699

rs_779434083

1 SubmittersRCV002003843

NM_152443.3(RDH12):c.133A>G (p.Thr45Ala)

SNV
Germline

Chr14:67724537

Pathogenic/Likely pathogenic

Leber congenital amaurosis 13

Criteria Provided
Multiple Submitters
No Conflicts

CA390147970

rs_1225487694

2 SubmittersRCV002023609

NM_152443.3(RDH12):c.505C>G (p.Arg169Gly)

SNV
Germline

Chr14:67727037

Pathogenic/Likely pathogenic

Leber congenital amaurosis 13

Criteria Provided
Multiple Submitters
No Conflicts

CA7238734

rs_761167763

4 SubmittersRCV002023658

NM_201253.3(CRB1):c.3863G>A (p.Gly1288Asp)

SNV
Germline

Chr1:197438660

Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA1312417

rs_533997742

1 SubmittersRCV001971616

NM_201253.3(CRB1):c.2640T>G (p.Asn880Lys)

SNV
Germline

Chr1:197427965

Conflicting classifications of pathogenicity

Leber congenital amaurosis 8
Retinitis pigmentosa 12
not specified

Criteria Provided
Conflicting Classifications

CA344038603

rs_2125485441

2 SubmittersRCV002009208 RCV005433111

NM_022787.4(NMNAT1):c.116-2A>G

SNV
Germline

Chr1:9975590

Pathogenic

Leber congenital amaurosis 9

Criteria Provided
Multiple Submitters
No Conflicts

CA338684127

rs_1204470176

2 SubmittersRCV001972231

NM_014336.5(AIPL1):c.276+1G>A

SNV
Germline

Chr17:6433918

Pathogenic/Likely pathogenic

Leber congenital amaurosis 4
Leber congenital amaurosis 4
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA8328578

rs_150097891

2 SubmittersRCV002007326 RCV002497862

NM_014336.5(AIPL1):c.826G>T (p.Glu276Ter)

SNV
Germline

Chr17:6425789

Pathogenic

Leber congenital amaurosis 4

Criteria Provided
Single Submitter

CA397394848

rs_2150674982

1 SubmittersRCV001993339

NM_201253.3(CRB1):c.565G>T (p.Glu189Ter)

SNV
Germline

Chr1:197328916

Pathogenic/Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA344081566

rs_1658692554

2 SubmittersRCV001912801 RCV003475151

NM_152443.3(RDH12):c.866G>A (p.Trp289Ter)

SNV
Germline

Chr14:67733763

Conflicting classifications of pathogenicity

Leber congenital amaurosis 13
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA390154006

rs_2140162488

2 SubmittersRCV002037755 RCV005419285

NM_020366.4(RPGRIP1):c.3610C>T (p.Gln1204Ter)

SNV
Germline

Chr14:21345190

Pathogenic

Cone-rod dystrophy 13
Leber congenital amaurosis 6

Criteria Provided
Single Submitter

CA388857597

rs_2139350315

1 SubmittersRCV002037770

NM_201253.3(CRB1):c.4005+2T>C

SNV
Germline

Chr1:197442294

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA344052789

rs_2125514028

1 SubmittersRCV001994673

NM_201253.3(CRB1):c.2252T>A (p.Leu751Ter)

SNV
Germline

Chr1:197427577

Pathogenic/Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Multiple Submitters
No Conflicts

CA344036819

rs_1409490389

3 SubmittersRCV002035427 RCV003475209 RCV005006308

NM_201253.3(CRB1):c.848+1G>A

SNV
Germline

Chr1:197344477

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA344083660

rs_2125328634

3 SubmittersRCV001900241 RCV003475135 RCV004815701

NM_000329.3(RPE65):c.247T>C (p.Phe83Leu)

SNV
Germline

Chr1:68444882

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

CA340748617

rs_2100828545

1 SubmittersRCV001942144

NM_201253.3(CRB1):c.3653G>C (p.Cys1218Ser)

SNV
Germline

Chr1:197435516

Conflicting classifications of pathogenicity

Retinitis pigmentosa 12
Leber congenital amaurosis 8
not specified

Criteria Provided
Conflicting Classifications

CA344050250

rs_1450635782

2 SubmittersRCV002013759 RCV004699644

NM_020366.4(RPGRIP1):c.218+1G>T

SNV
Germline

Chr14:21294810

Likely pathogenic

Cone-rod dystrophy 13
Leber congenital amaurosis 6

Criteria Provided
Single Submitter

CA7088593

rs_546692544

1 SubmittersRCV002018117

NM_000329.3(RPE65):c.405T>A (p.Asn135Lys)

SNV
Germline

Chr1:68444621

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

CA340747891

rs_1645928294

1 SubmittersRCV002031094

NM_000329.3(RPE65):c.725+1G>A

SNV
Germline

Chr1:68439560

Pathogenic/Likely pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA340745904

rs_1260969698

2 SubmittersRCV001941576 RCV003471147

NM_000180.4(GUCY2D):c.2209C>T (p.Gln737Ter)

SNV
Germline

Chr17:8013198

Pathogenic

Leber congenital amaurosis 1
Cone-rod dystrophy 6

Criteria Provided
Single Submitter

CA397952926

rs_2151802829

1 SubmittersRCV001951185

NM_201253.3(CRB1):c.2842+2T>C

SNV
Germline

Chr1:197429616

Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344041413

rs_2125489334

1 SubmittersRCV002041452

NM_201253.3(CRB1):c.3442T>C (p.Cys1148Arg)

SNV
Germline

Chr1:197435305

Pathogenic/Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinal dystrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA344047937

rs_2125500491

5 SubmittersRCV001951032 RCV004690198 RCV003475229 RCV005008299

NM_201253.3(CRB1):c.652+1G>A

SNV
Germline

Chr1:197329004

Pathogenic/Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Retinal dystrophy
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Multiple Submitters
No Conflicts

CA344081768

rs_2125304900

5 SubmittersRCV002037978 RCV002246640 RCV003446979 RCV004816874 RCV003446978 RCV005008357

NM_201253.3(CRB1):c.3878+1G>A

SNV
Germline

Chr1:197438676

Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA1312422

rs_748927280

1 SubmittersRCV002020594

NM_025114.4(CEP290):c.3240T>A (p.Tyr1080Ter)

SNV
Germline

Chr12:88093839

Pathogenic/Likely pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Meckel syndrome, type 4
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Joubert syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA386006030

rs_886042467

2 SubmittersRCV001905654 RCV005006155

NM_201253.3(CRB1):c.3749+1G>A

SNV
Germline

Chr1:197435613

Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA344050707

rs_2125501295

1 SubmittersRCV001991452

NM_020366.4(RPGRIP1):c.767C>G (p.Ser256Ter)

SNV
Germline

Chr14:21303510

Pathogenic

Cone-rod dystrophy 13
Leber congenital amaurosis 6

Criteria Provided
Single Submitter

CA388860861

rs_2139160679

1 SubmittersRCV001963002

NM_201253.3(CRB1):c.2536G>A (p.Gly846Arg)

SNV
Germline

Chr1:197427861

Pathogenic/Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA1312134

rs_539189291

2 SubmittersRCV001963012 RCV004794566

NM_201253.3(CRB1):c.3988G>T (p.Glu1330Ter)

SNV
Germline

Chr1:197442275

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA344052686

rs_1372774777

3 SubmittersRCV001942337 RCV005008297 RCV003475225

NM_020366.4(RPGRIP1):c.1930C>T (p.Gln644Ter)

SNV
Germline

Chr14:21324785

Pathogenic

Cone-rod dystrophy 13
Leber congenital amaurosis 6

Criteria Provided
Single Submitter

CA388867301

rs_2139227650

1 SubmittersRCV001958667

NM_000329.3(RPE65):c.725+2T>C

SNV
Germline

Chr1:68439559

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

CA340745900

rs_1355979496

1 SubmittersRCV001958678

NM_014336.5(AIPL1):c.325C>T (p.Gln109Ter)

SNV
Germline

Chr17:6428458

Pathogenic

Leber congenital amaurosis 4

Criteria Provided
Single Submitter

CA397396537

rs_1912228419

1 SubmittersRCV001956316

NM_025114.4(CEP290):c.3G>A (p.Met1Ile)

SNV
Germline

Chr12:88141305

Pathogenic/Likely pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Joubert syndrome 5
Leber congenital amaurosis 10
Meckel syndrome, type 4

Criteria Provided
Multiple Submitters
No Conflicts

CA6712932

rs_773525033

2 SubmittersRCV001956388 RCV005002725

NM_020366.4(RPGRIP1):c.1111C>T (p.Arg371Ter)

SNV
Germline

Chr14:21312466

Pathogenic

Cone-rod dystrophy 13
Leber congenital amaurosis 6
Cone-rod dystrophy 13

Criteria Provided
Multiple Submitters
No Conflicts

CA7088872

rs_375859404

3 SubmittersRCV001871080 RCV004774498

NM_201253.3(CRB1):c.998G>C (p.Gly333Ala)

SNV
Germline

Chr1:197356840

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344084316

rs_587783015

1 SubmittersRCV001956079

NM_201253.3(CRB1):c.1997T>A (p.Val666Asp)

SNV
Germline

Chr1:197421825

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA35893916

rs_189395222

2 SubmittersRCV001956081 RCV004571740

NM_014336.5(AIPL1):c.221T>C (p.Ile74Thr)

SNV
Germline

Chr17:6433974

Conflicting classifications of pathogenicity

Leber congenital amaurosis 4
AIPL1-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8328592

rs_201336952

3 SubmittersRCV001864789 RCV004542147 RCV004616803

NM_020366.4(RPGRIP1):c.1867C>T (p.Gln623Ter)

SNV
Germline

Chr14:21324722

Pathogenic

Cone-rod dystrophy 13
Leber congenital amaurosis 6

Criteria Provided
Single Submitter

CA388867065

rs_772090790

1 SubmittersRCV001875567

NM_201253.3(CRB1):c.2128G>A (p.Glu710Lys)

SNV
Germline

Chr1:197421956

Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA1312035

rs_62645755

1 SubmittersRCV001961694

NM_201253.3(CRB1):c.1760G>A (p.Cys587Tyr)

SNV
Germline

Chr1:197421588

Conflicting classifications of pathogenicity

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA344032516

rs_1471328495

4 SubmittersRCV002019364 RCV003475279 RCV003888988

NM_152443.3(RDH12):c.449-2A>G

SNV
Germline

Chr14:67726979

Likely pathogenic

Leber congenital amaurosis 13

Criteria Provided
Single Submitter

CA390150469

rs_2140145138

1 SubmittersRCV002046829

NM_022787.4(NMNAT1):c.38C>A (p.Ala13Asp)

SNV
Germline

Chr1:9972111

Likely pathogenic

Leber congenital amaurosis 9

Criteria Provided
Single Submitter

CA338683361

rs_1641702737

1 SubmittersRCV001888185

NM_001001557.4(GDF6):c.959C>G (p.Pro320Arg)

SNV
Germline

Chr8:96144972

Conflicting classifications of pathogenicity

Klippel-Feil syndrome 1, autosomal dominant
Leber congenital amaurosis 17
Microphthalmia, isolated, with coloboma 6
Isolated microphthalmia 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA181485028

rs_888138096

2 SubmittersRCV001901583 RCV004631812

NM_201253.3(CRB1):c.3419T>A (p.Leu1140Ter)

SNV
Germline

Chr1:197435282

Pathogenic/Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Multiple Submitters
No Conflicts

CA344047724

rs_1342970033

2 SubmittersRCV001944050 RCV005006258

NM_025114.4(CEP290):c.181-9A>G

SNV
Germline

Chr12:88139573

Conflicting classifications of pathogenicity

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome
CEP290-related disorder
Senior-Loken syndrome 6
Leber congenital amaurosis 10
Meckel syndrome, type 4
Joubert syndrome 5
Bardet-Biedl syndrome 14

Criteria Provided
Conflicting Classifications

CA6712885

rs_745494615

3 SubmittersRCV002008872 RCV004538715 RCV005008362

NM_000180.4(GUCY2D):c.760G>T (p.Glu254Ter)

SNV
Germline

Chr17:8003890

Pathogenic/Likely pathogenic

Cone-rod dystrophy 6
Leber congenital amaurosis 1
Choroidal dystrophy, central areolar, 1
Cone-rod dystrophy 6
Night blindness, congenital stationary, type1i
Leber congenital amaurosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA8365567

rs_756730335

2 SubmittersRCV001963076 RCV002492137

NM_022787.4(NMNAT1):c.255G>A (p.Trp85Ter)

SNV
Germline

Chr1:9975731

Pathogenic

Leber congenital amaurosis 9

Criteria Provided
Single Submitter

CA338685065

rs_2101701634

1 SubmittersRCV001958992

NM_020366.4(RPGRIP1):c.2216-1G>A

SNV
Germline

Chr14:21325231

Likely pathogenic

Cone-rod dystrophy 13
Leber congenital amaurosis 6

Criteria Provided
Single Submitter

CA257536084

rs_970696880

1 SubmittersRCV002048259

NM_201253.3(CRB1):c.2393T>A (p.Leu798Ter)

SNV
Germline

Chr1:197427718

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344037119

rs_2125484499

1 SubmittersRCV001918230

NM_020366.4(RPGRIP1):c.86-1G>A

SNV
Germline

Chr14:21294676

Likely pathogenic

Leber congenital amaurosis 6
Cone-rod dystrophy 13

Criteria Provided
Single Submitter

CA7088562

rs_200968268

1 SubmittersRCV001975616

NM_001023570.4(IQCB1):c.1333C>T (p.Arg445Ter)

SNV
Germline

Chr3:121781820

Pathogenic

Nephronophthisis
Senior-Loken syndrome 5
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA82726000

rs_867772426

3 SubmittersRCV001956492 RCV003475250 RCV005419287

NM_000180.4(GUCY2D):c.3006G>A (p.Thr1002=)

SNV
Germline

Chr17:8015804

Conflicting classifications of pathogenicity

Cone-rod dystrophy 6
Leber congenital amaurosis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8366277

rs_764749298

2 SubmittersRCV002026885 RCV004694147

NM_201253.3(CRB1):c.716G>C (p.Cys239Ser)

SNV
Germline

Chr1:197344344

Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA1311694

rs_771079655

1 SubmittersRCV001960197

NM_201253.3(CRB1):c.852T>A (p.Tyr284Ter)

SNV
Germline

Chr1:197347343

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA36048736

rs_1046799192

1 SubmittersRCV001907778

NM_025114.4(CEP290):c.4677T>G (p.Tyr1559Ter)

SNV
Germline

Chr12:88084613

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Meckel syndrome, type 4
Joubert syndrome 5
Leber congenital amaurosis 10
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA385994556

rs_2137182509

3 SubmittersRCV001979757 RCV005006295 RCV005607036

NM_000180.4(GUCY2D):c.2545A>G (p.Thr849Ala)

SNV
Germline

Chr17:8014733

Likely pathogenic

Cone-rod dystrophy 6
Leber congenital amaurosis 1

Criteria Provided
Single Submitter

CA397953755

rs_2151803362

1 SubmittersRCV001986324

NM_201253.3(CRB1):c.3862G>A (p.Gly1288Ser)

SNV
Germline

Chr1:197438659

Pathogenic/Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Multiple Submitters
No Conflicts

CA344051009

rs_2125506459

4 SubmittersRCV001986193 RCV002492273 RCV003453933 RCV003453932 RCV003453931

NM_020366.4(RPGRIP1):c.1145T>A (p.Leu382Ter)

SNV
Germline

Chr14:21312500

Pathogenic

Cone-rod dystrophy 13
Leber congenital amaurosis 6

Criteria Provided
Single Submitter

CA388862928

rs_2139176356

1 SubmittersRCV001922256

NM_025114.4(CEP290):c.10A>G (p.Asn4Asp)

SNV
Germline

Chr12:88141298

Conflicting classifications of pathogenicity

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
CEP290-related disorder
Inborn genetic diseases
Meckel syndrome, type 4
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Joubert syndrome 5

Criteria Provided
Conflicting Classifications

CA241168932

rs_997653455

4 SubmittersRCV001916478 RCV004733414 RCV004975851 RCV005002661

NM_018418.5(SPATA7):c.319A>G (p.Met107Val)

SNV
Germline

Chr14:88416791

Conflicting classifications of pathogenicity

Leber congenital amaurosis 3
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7298493

rs_763053429

2 SubmittersRCV001934017 RCV005493178

NM_000180.4(GUCY2D):c.2412+2T>C

SNV
Germline

Chr17:8014030

Likely pathogenic

Leber congenital amaurosis 1
Cone-rod dystrophy 6

Criteria Provided
Single Submitter

CA397953373

rs_2151803131

1 SubmittersRCV002012499

NM_003322.6(TULP1):c.999+5G>A

SNV
Germline

Chr6:35505998

Conflicting classifications of pathogenicity

Leber congenital amaurosis 15
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA2573140329

rs_2150925392

2 SubmittersRCV002052173 RCV004794575

NM_025114.4(CEP290):c.3378G>A (p.Val1126=)

SNV
Germline

Chr12:88092764

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
CEP290-related disorder
Joubert syndrome 5
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4

Criteria Provided
Conflicting Classifications

CA6712155

rs_546939043

3 SubmittersRCV002142105 RCV004543835 RCV005002797

NM_201253.3(CRB1):c.4029C>T (p.Asp1343=)

SNV
Germline

Chr1:197477687

Conflicting classifications of pathogenicity

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA1312538

rs_780087216

2 SubmittersRCV002161543 RCV003889090

NM_025114.4(CEP290):c.298-16G>A

SNV
Germline

Chr12:88136802

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Meckel syndrome, type 4
Joubert syndrome 5
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10

Criteria Provided
Conflicting Classifications

CA6712840

rs_531851010

2 SubmittersRCV002078512 RCV005002795

NM_201253.3(CRB1):c.3213C>T (p.Leu1071=)

SNV
Germline

Chr1:197435076

Conflicting classifications of pathogenicity

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA422809231

rs_2125499764

2 SubmittersRCV002087318 RCV003889016

NM_201253.3(CRB1):c.2018A>G (p.Lys673Arg)

SNV
Germline

Chr1:197421846

Conflicting classifications of pathogenicity

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1312018

rs_145956521

2 SubmittersRCV002135605 RCV003061773

NM_201253.3(CRB1):c.3956T>A (p.Phe1319Tyr)

SNV
Germline

Chr1:197442243

Conflicting classifications of pathogenicity

Leber congenital amaurosis 8
Retinitis pigmentosa 12
not specified

Criteria Provided
Conflicting Classifications

CA1312450

rs_559611648

2 SubmittersRCV002213404 RCV004526908

NM_003322.6(TULP1):c.790C>T (p.Gln264Ter)

SNV
Germline

Chr6:35509241

Pathogenic

Leber congenital amaurosis 15
Leber congenital amaurosis

Criteria Provided
Single Submitter

CA363781122

rs_2150926986

1 SubmittersRCV002210942

NM_000329.3(RPE65):c.938A>G (p.His313Arg)

SNV
Germline

Chr1:68439002

Pathogenic

Leber congenital amaurosis 2
Leber congenital amaurosis
Leber congenital amaurosis 2
Retinitis pigmentosa 20
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA340744821

rs_1375943362

5 SubmittersRCV002226568 RCV003987987 RCV003101291 RCV004527444

NM_000180.4(GUCY2D):c.2135A>T (p.Glu712Val)

SNV
Unknown

Chr17:8013124

Likely pathogenic

Leber congenital amaurosis 1

Criteria Provided
Single Submitter

CA397952783

rs_2151802780

1 SubmittersRCV002226888

NM_000554.6(CRX):c.545C>G (p.Ser182Ter)

SNV
Germline

Chr19:47839612

Pathogenic/Likely pathogenic

Leber congenital amaurosis 7
Cone-rod dystrophy 2
Cone-rod dystrophy 2

Criteria Provided
Multiple Submitters
No Conflicts

CA406631032

rs_2123743235

2 SubmittersRCV003094022 RCV002249841

NM_000180.4(GUCY2D):c.1A>G (p.Met1Val)

SNV
Germline

Chr17:8003048

Pathogenic

Leber congenital amaurosis 1
Cone-rod dystrophy 6
Leber congenital amaurosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA397942217

rs_1424348888

2 SubmittersRCV002250039 RCV003774717

NM_000180.4(GUCY2D):c.2512C>G (p.Arg838Gly)

SNV
Germline

Chr17:8014700

Pathogenic

Leber congenital amaurosis 1

Criteria Provided
Single Submitter

CA397953615

rs_61750172

1 SubmittersRCV002250040

NM_018418.5(SPATA7):c.19+2T>A

SNV
Germline

Chr14:88385839

Pathogenic

Leber congenital amaurosis 3

Criteria Provided
Multiple Submitters
No Conflicts

CA264502591

rs_866837129

2 SubmittersRCV002246739

NM_020366.4(RPGRIP1):c.1151+1G>A

SNV
Germline

Chr14:21312507

Pathogenic

Leber congenital amaurosis 6

Criteria Provided
Single Submitter

CA7088881

rs_751096098

2 SubmittersRCV002250894

NM_000180.4(GUCY2D):c.2006C>G (p.Ser669Ter)

SNV
Germline

Chr17:8012499

Likely pathogenic

Leber congenital amaurosis 1

Criteria Provided
Single Submitter

CA397952220

rs_2151802518

1 SubmittersRCV002250977

NM_000180.4(GUCY2D):c.315C>A (p.Cys105Ter)

SNV
Germline

Chr17:8003362

Pathogenic

Leber congenital amaurosis 1

Criteria Provided
Single Submitter

CA397943175

rs_2151799357

1 SubmittersRCV002251181

NM_201253.3(CRB1):c.1499C>G (p.Ser500Ter)

SNV
Germline

Chr1:197421327

Likely pathogenic

Leber congenital amaurosis 8

No Assertion Criteria Provided

CA344031194

rs_2528106913

1 SubmittersRCV002464047

NM_000329.3(RPE65):c.992G>A (p.Trp331Ter)

SNV
Germline

Chr1:68438948

Pathogenic

Condition: not provided
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA902335

rs_761471961

3 SubmittersRCV002278955 RCV003096295 RCV003471304

NM_018418.5(SPATA7):c.3G>T (p.Met1Ile)

SNV
Germline

Chr14:88385821

Likely pathogenic

Leber congenital amaurosis

Criteria Provided
Single Submitter

CA7298307

rs_200244203

1 SubmittersRCV002282912

NM_000329.3(RPE65):c.1087C>T (p.Pro363Ser)

SNV
Germline

Chr1:68438228

Conflicting classifications of pathogenicity

RPE65-related recessive retinopathy
Leber congenital amaurosis 2
Leber congenital amaurosis 2
Retinitis pigmentosa 20

Criteria Provided
Conflicting Classifications

CA902299

rs_121917744

3 SubmittersRCV002466805 RCV004720366 RCV005227782

NM_025114.4(CEP290):c.2506G>T (p.Glu836Ter)

SNV
Germline

Chr12:88107076

Pathogenic/Likely pathogenic

Leber congenital amaurosis 10
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA385972115

rs_2038340977

2 SubmittersRCV002470298 RCV004571174

NM_001122769.3(LCA5):c.3G>A (p.Met1Ile)

SNV
Germline

Chr6:79518892

Pathogenic/Likely pathogenic

Condition: not provided
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA364632413

rs_1766535009

2 SubmittersRCV003037179 RCV005406564

NM_000180.4(GUCY2D):c.1762C>T (p.Arg588Trp)

SNV
Germline

Chr17:8012156

Pathogenic

Leber congenital amaurosis
Leber congenital amaurosis 1
Cone-rod dystrophy 6
Retinal dystrophy
Leber congenital amaurosis 1
Choroidal dystrophy, central areolar, 1
Cone-rod dystrophy 6
Night blindness, congenital stationary, type1i
GUCY2D-related recessive retinopathy
Leber congenital amaurosis 1

Reviewed By Expert Panel

CA287530833

rs_940175403

6 SubmittersRCV004700917 RCV003064395 RCV004817199 RCV005019589 RCV005053999 RCV003992701

NM_025114.4(CEP290):c.6640A>T (p.Lys2214Ter)

SNV
Germline

Chr12:88059903

Pathogenic/Likely pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome
Condition: not provided
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Joubert syndrome 5
Meckel syndrome, type 4
Leber congenital amaurosis 10
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA6711460

rs_768065164

4 SubmittersRCV003062529 RCV003138466 RCV003465923 RCV005010896

NM_020366.4(RPGRIP1):c.1763-2A>G

SNV
Germline

Chr14:21324616

Likely pathogenic

Leber congenital amaurosis 6
Cone-rod dystrophy 13

Criteria Provided
Single Submitter

CA7089090

rs_771106795

1 SubmittersRCV003062612

NM_201253.3(CRB1):c.3166G>C (p.Asp1056His)

SNV
Germline

Chr1:197435029

Conflicting classifications of pathogenicity

Retinitis pigmentosa 12
Leber congenital amaurosis 8
not specified

Criteria Provided
Conflicting Classifications

CA344046268

rs_727503889

2 SubmittersRCV003053333 RCV004690354

NM_000329.3(RPE65):c.717C>G (p.Tyr239Ter)

SNV
Germline

Chr1:68439569

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

CA340745922

rs_1366781286

1 SubmittersRCV003068133

NM_000329.3(RPE65):c.1039C>T (p.Arg347Cys)

SNV
Germline

Chr1:68438276

Likely pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis 2
RPE65-related recessive retinopathy
Leber congenital amaurosis

Reviewed By Expert Panel

CA23569514

rs_936592713

4 SubmittersRCV003065733 RCV004572741 RCV004801943 RCV005239635

NM_000329.3(RPE65):c.61G>T (p.Glu21Ter)

SNV
Germline

Chr1:68448657

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

CA340750196

rs_2523458378

1 SubmittersRCV003061518

NM_014336.5(AIPL1):c.364G>A (p.Gly122Arg)

SNV
Germline

Chr17:6428419

Pathogenic

Leber congenital amaurosis 4

Criteria Provided
Single Submitter

CA397396361

rs_201883601

1 SubmittersRCV003074985

NM_000554.6(CRX):c.663C>G (p.Tyr221Ter)

SNV
Germline

Chr19:47839730

Likely pathogenic

Leber congenital amaurosis 7
Cone-rod dystrophy 2

Criteria Provided
Single Submitter

CA406631473

rs_1064797247

1 SubmittersRCV003061635

NM_014336.5(AIPL1):c.1090G>A (p.Ala364Thr)

SNV
Germline

Chr17:6425525

Conflicting classifications of pathogenicity

Leber congenital amaurosis 4
Inborn genetic diseases
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA8328314

rs_201875142

3 SubmittersRCV003088358 RCV004073120 RCV004818218

NM_000329.3(RPE65):c.131G>C (p.Arg44Pro)

SNV
Germline

Chr1:68446824

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

CA340749207

rs_61751282

1 SubmittersRCV003088739

NM_201253.3(CRB1):c.2822C>T (p.Pro941Leu)

SNV
Germline

Chr1:197429594

Conflicting classifications of pathogenicity

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Retinal dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1312213

rs_77334581

3 SubmittersRCV002598839 RCV003889242 RCV005542944

NM_025114.4(CEP290):c.5709+2T>G

SNV
Germline

Chr12:88077220

Pathogenic/Likely pathogenic

Nephronophthisis
Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome 5
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA385987155

rs_2499838601

3 SubmittersRCV002585497 RCV005011021 RCV003465972

NM_022787.4(NMNAT1):c.115+1G>C

SNV
Germline

Chr1:9972189

Likely pathogenic

Leber congenital amaurosis 9

Criteria Provided
Single Submitter

CA579132

rs_779434083

1 SubmittersRCV002625004

NM_152443.3(RDH12):c.559G>A (p.Asp187Asn)

SNV
Germline

Chr14:67727091

Conflicting classifications of pathogenicity

Inborn genetic diseases
Leber congenital amaurosis 13

Criteria Provided
Conflicting Classifications

CA7238748

rs_115356583

2 SubmittersRCV002644352 RCV002644351

NM_201253.3(CRB1):c.4005+2T>G

SNV
Germline

Chr1:197442294

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA344052791

rs_2125514028

2 SubmittersRCV002651390 RCV005235690

NM_201253.3(CRB1):c.4006-1G>A

SNV
Germline

Chr1:197477663

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA1312533

rs_752804194

1 SubmittersRCV002651391

NM_001122769.3(LCA5):c.491A>G (p.His164Arg)

SNV
Germline

Chr6:79513441

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 5

Criteria Provided
Conflicting Classifications

CA3901111

rs_183669161

2 SubmittersRCV002634266 RCV003465991

NM_000329.3(RPE65):c.311G>A (p.Gly104Asp)

SNV
Germline

Chr1:68444818

Likely pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA340748262

rs_61752875

2 SubmittersRCV002634293 RCV005425068

NM_000329.3(RPE65):c.310G>A (p.Gly104Ser)

SNV
Germline

Chr1:68444819

Pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis
Leber congenital amaurosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA902547

rs_767478543

3 SubmittersRCV002634294 RCV005239705 RCV003465996

NM_201253.3(CRB1):c.1360G>A (p.Gly454Arg)

SNV
Germline

Chr1:197421188

Conflicting classifications of pathogenicity

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
not specified
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Conflicting Classifications

CA35893417

rs_954595597

4 SubmittersRCV002651385 RCV003455745 RCV003324081 RCV003455743 RCV003455744 RCV005011098

NM_201253.3(CRB1):c.2086T>C (p.Cys696Arg)

SNV
Germline

Chr1:197421914

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA344034095

rs_2528114733

1 SubmittersRCV002651386

NM_201253.3(CRB1):c.2696G>C (p.Gly899Ala)

SNV
Germline

Chr1:197429468

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA344040428

rs_1254393801

1 SubmittersRCV002664200

NM_201253.3(CRB1):c.3152G>A (p.Trp1051Ter)

SNV
Germline

Chr1:197435015

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA344046087

rs_1665070172

1 SubmittersRCV002634327

NM_201253.3(CRB1):c.3460T>A (p.Cys1154Ser)

SNV
Germline

Chr1:197435323

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA344048058

rs_2528202588

1 SubmittersRCV002651388

NM_201253.3(CRB1):c.3668G>C (p.Cys1223Ser)

SNV
Germline

Chr1:197435531

Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA344050345

rs_2528204865

1 SubmittersRCV002651389

NM_201253.3(CRB1):c.3914C>T (p.Pro1305Leu)

SNV
Germline

Chr1:197442201

Pathogenic/Likely pathogenic

Leber congenital amaurosis 8
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Multiple Submitters
No Conflicts

CA344052517

rs_1391910861

2 SubmittersRCV003475520 RCV002664202

NM_201253.3(CRB1):c.2054G>C (p.Gly685Ala)

SNV
Germline

Chr1:197421882

Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA1312029

rs_748175297

1 SubmittersRCV002633018

NM_025114.4(CEP290):c.3461+9A>G

SNV
Germline

Chr12:88092672

Conflicting classifications of pathogenicity

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14
Joubert syndrome 5
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Meckel syndrome, type 4

Criteria Provided
Conflicting Classifications

CA606456149

rs_1301659851

2 SubmittersRCV002601022 RCV005008649

NM_201253.3(CRB1):c.3145T>C (p.Ser1049Pro)

SNV
Germline

Chr1:197435008

Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis

Criteria Provided
Single Submitter

CA344045988

rs_2528199038

2 SubmittersRCV002594786 RCV005616425

NM_001122769.3(LCA5):c.766C>T (p.Gln256Ter)

SNV
Germline

Chr6:79493705

Pathogenic

Condition: not provided
Leber congenital amaurosis 5

Criteria Provided
Multiple Submitters
No Conflicts

CA364645399

rs_2533392056

2 SubmittersRCV002594483 RCV005032338

NM_201253.3(CRB1):c.1405T>G (p.Cys469Gly)

SNV
Germline

Chr1:197421233

Conflicting classifications of pathogenicity

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Leber congenital amaurosis 8
not specified

Criteria Provided
Conflicting Classifications

CA344030762

rs_2528105698

5 SubmittersRCV002614384 RCV005008667 RCV003475405 RCV004690310

NM_020366.4(RPGRIP1):c.442A>T (p.Arg148Ter)

SNV
Germline

Chr14:21301189

Pathogenic

Cone-rod dystrophy 13
Leber congenital amaurosis 6

Criteria Provided
Single Submitter

CA388859273

rs_1324633537

1 SubmittersRCV002635361

NM_201253.3(CRB1):c.549C>A (p.Cys183Ter)

SNV
Germline

Chr1:197328900

Pathogenic/Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA344081529

rs_756544059

2 SubmittersRCV002671469 RCV003475411

NM_001001557.4(GDF6):c.219C>A (p.Asp73Glu)

SNV
Germline

Chr8:96160474

Conflicting classifications of pathogenicity

Leber congenital amaurosis 17
Klippel-Feil syndrome 1, autosomal dominant
Microphthalmia, isolated, with coloboma 6
Isolated microphthalmia 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4815528

rs_753416812

2 SubmittersRCV002646489 RCV002646488

NM_201253.3(CRB1):c.2885T>A (p.Leu962Ter)

SNV
Germline

Chr1:197434748

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344043230

rs_2528195914

1 SubmittersRCV002690589

NM_201253.3(CRB1):c.3913C>G (p.Pro1305Ala)

SNV
Germline

Chr1:197442200

Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344052509

rs_2528243703

1 SubmittersRCV002686099

NM_201253.3(CRB1):c.2695G>A (p.Gly899Arg)

SNV
Germline

Chr1:197429467

Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344040422

rs_2528165311

1 SubmittersRCV002740100

NM_201253.3(CRB1):c.1171+1G>A

SNV
Germline

Chr1:197357014

Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344084686

rs_2527717111

1 SubmittersRCV002790651

NM_201253.3(CRB1):c.2264T>C (p.Leu755Ser)

SNV
Germline

Chr1:197427589

Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344036851

rs_2528148484

1 SubmittersRCV002776168

NM_000329.3(RPE65):c.1291T>C (p.Tyr431His)

SNV
Germline

Chr1:68431329

Conflicting classifications of pathogenicity

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA23564019

rs_985047210

3 SubmittersRCV002770833 RCV005054423 RCV004794594

NM_000329.3(RPE65):c.1398C>A (p.Tyr466Ter)

SNV
Germline

Chr1:68431117

Pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20

Criteria Provided
Single Submitter

CA340741973

rs_764189309

1 SubmittersRCV002824485

NM_201253.3(CRB1):c.585C>G (p.Cys195Trp)

SNV
Germline

Chr1:197328936

Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Retinal dystrophy

Criteria Provided
Single Submitter

CA344081610

rs_2465032554

2 SubmittersRCV002828472 RCV004817124

NM_018418.5(SPATA7):c.94+1G>C

SNV
Germline

Chr14:88391456

Likely pathogenic

Leber congenital amaurosis 3

Criteria Provided
Single Submitter

CA390545476

rs_2504079165

1 SubmittersRCV002819785

NM_000329.3(RPE65):c.1293C>A (p.Tyr431Ter)

SNV
Germline

Chr1:68431327

Pathogenic/Likely pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Retinitis pigmentosa 87 with choroidal involvement
Leber congenital amaurosis 2
Retinitis pigmentosa 20

Criteria Provided
Multiple Submitters
No Conflicts

CA340742522

rs_1289316104

2 SubmittersRCV002829784 RCV005027984

NM_000329.3(RPE65):c.1243+1G>C

SNV
Germline

Chr1:68431470

Likely pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA340742783

rs_1421696563

2 SubmittersRCV002862290 RCV004571369

NM_201253.3(CRB1):c.2806G>T (p.Gly936Ter)

SNV
Germline

Chr1:197429578

Pathogenic/Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA344041268

rs_181410446

2 SubmittersRCV002833622 RCV003475431

NM_201253.3(CRB1):c.1312T>A (p.Cys438Ser)

SNV
Germline

Chr1:197421140

Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344030327

rs_2528104857

1 SubmittersRCV002858692

NM_025114.4(CEP290):c.442-1G>A

SNV
Germline

Chr12:88131219

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome 5
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Meckel syndrome, type 4
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA385986700

rs_2040047006

2 SubmittersRCV002880883 RCV005002894

NM_201253.3(CRB1):c.975T>A (p.Cys325Ter)

SNV
Germline

Chr1:197347466

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344084251

rs_2527647145

1 SubmittersRCV002880916

NM_000329.3(RPE65):c.999-2A>G

SNV
Germline

Chr1:68438318

Pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20

Criteria Provided
Single Submitter

CA340744503

rs_2523423130

1 SubmittersRCV002885100

NM_025114.4(CEP290):c.5098G>T (p.Glu1700Ter)

SNV
Germline

Chr12:88080310

Pathogenic/Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
Bardet-Biedl syndrome 14
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA385991339

rs_2499911272

3 SubmittersRCV002857203 RCV003465849 RCV005608794

NM_201253.3(CRB1):c.117C>A (p.Cys39Ter)

SNV
Germline

Chr1:197328468

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344085056

rs_2465024880

1 SubmittersRCV002853215

NM_152443.3(RDH12):c.659-1G>A

SNV
Germline

Chr14:67729190

Likely pathogenic

Leber congenital amaurosis 13

Criteria Provided
Single Submitter

CA390152854

rs_2503831353

1 SubmittersRCV002853359

NM_014336.5(AIPL1):c.97-1G>A

SNV
Germline

Chr17:6434099

Likely pathogenic

Leber congenital amaurosis 4

Criteria Provided
Single Submitter

CA287328963

rs_939660584

1 SubmittersRCV002876610

NM_201253.3(CRB1):c.3853T>G (p.Cys1285Gly)

SNV
Germline

Chr1:197438650

Conflicting classifications of pathogenicity

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Condition: not provided

Criteria Provided
Conflicting Classifications

CA344050984

rs_1665279918

2 SubmittersRCV002862574 RCV003146645

NM_014336.5(AIPL1):c.2T>C (p.Met1Thr)

SNV
Germline

Chr17:6435103

Pathogenic

Leber congenital amaurosis 4

Criteria Provided
Single Submitter

CA397397931

rs_2543922227

1 SubmittersRCV002848016

NM_000329.3(RPE65):c.411C>A (p.Tyr137Ter)

SNV
Germline

Chr1:68444615

Pathogenic/Likely pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA340747879

rs_1422501788

2 SubmittersRCV002894779 RCV003465861

NM_201253.3(CRB1):c.3532A>G (p.Ile1178Val)

SNV
Germline

Chr1:197435395

Conflicting classifications of pathogenicity

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1312349

rs_753093284

2 SubmittersRCV002908431 RCV004066095

NM_000180.4(GUCY2D):c.2323C>T (p.Gln775Ter)

SNV
Germline

Chr17:8013939

Pathogenic

Leber congenital amaurosis 1
Cone-rod dystrophy 6

Criteria Provided
Single Submitter

CA397953175

rs_2545425374

1 SubmittersRCV002886709

NM_020366.4(RPGRIP1):c.3463G>T (p.Glu1155Ter)

SNV
Germline

Chr14:21343159

Pathogenic

Cone-rod dystrophy 13
Leber congenital amaurosis 6

Criteria Provided
Single Submitter

CA388857168

rs_2502950630

1 SubmittersRCV002867673

NM_201253.3(CRB1):c.3935G>T (p.Cys1312Phe)

SNV
Germline

Chr1:197442222

Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA344052566

rs_1571572316

1 SubmittersRCV002942001

NM_201253.3(CRB1):c.2198A>G (p.Tyr733Cys)

SNV
Germline

Chr1:197427523

Conflicting classifications of pathogenicity

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Retinitis pigmentosa 12

Criteria Provided
Conflicting Classifications

CA1312071

rs_779943125

2 SubmittersRCV002943592 RCV005254646

NM_201253.3(CRB1):c.2842T>G (p.Cys948Gly)

SNV
Germline

Chr1:197429614

Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA344041408

rs_62645747

1 SubmittersRCV002943326

NM_201253.3(CRB1):c.2087G>A (p.Cys696Tyr)

SNV
Germline

Chr1:197421915

Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344034101

rs_2528114749

1 SubmittersRCV002949588

NM_022787.4(NMNAT1):c.165C>G (p.Tyr55Ter)

SNV
Germline

Chr1:9975641

Pathogenic

Leber congenital amaurosis 9

Criteria Provided
Single Submitter

CA338684330

rs_1017147686

1 SubmittersRCV003007154

NM_020366.4(RPGRIP1):c.2332G>A (p.Asp778Asn)

SNV
Germline

Chr14:21325348

Conflicting classifications of pathogenicity

Cone-rod dystrophy 13
Leber congenital amaurosis 6
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7089219

rs_768913743

2 SubmittersRCV003011529 RCV004068463

NM_000554.6(CRX):c.100+2T>G

SNV
Germline

Chr19:47834545

Pathogenic

Leber congenital amaurosis 7
Cone-rod dystrophy 2

Criteria Provided
Single Submitter

CA406629183

rs_281865198

1 SubmittersRCV003008305

NM_018418.5(SPATA7):c.1090G>T (p.Glu364Ter)

SNV
Germline

Chr14:88433142

Pathogenic

Leber congenital amaurosis 3

Criteria Provided
Single Submitter

CA390568536

rs_2504271197

1 SubmittersRCV003005784

NM_201253.3(CRB1):c.2833G>C (p.Gly945Arg)

SNV
Germline

Chr1:197429605

Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344041381

rs_749746650

1 SubmittersRCV003018726

NM_201253.3(CRB1):c.1840G>C (p.Gly614Arg)

SNV
Germline

Chr1:197421668

Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344032734

rs_2528111983

1 SubmittersRCV003023276

NM_001164688.2(RD3):c.238C>T (p.Gln80Ter)

SNV
Germline

Chr1:211481178

Pathogenic

Leber congenital amaurosis 12

Criteria Provided
Single Submitter

CA344879272

rs_1410405989

1 SubmittersRCV003026681

NM_000329.3(RPE65):c.10C>T (p.Gln4Ter)

SNV
Germline

Chr1:68449896

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis 2
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA902659

rs_748096417

3 SubmittersRCV003032078 RCV003465900 RCV003777039

NM_000180.4(GUCY2D):c.2263+1G>A

SNV
Germline

Chr17:8013253

Likely pathogenic

Cone-rod dystrophy 6
Leber congenital amaurosis 1

Criteria Provided
Single Submitter

CA397953041

rs_1210713719

1 SubmittersRCV003019760

NM_201253.3(CRB1):c.1181G>T (p.Cys394Phe)

SNV
Germline

Chr1:197421009

Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344027999

rs_1664277152

1 SubmittersRCV003026335

NM_000554.6(CRX):c.488G>A (p.Trp163Ter)

SNV
Germline

Chr19:47839555

Pathogenic

Leber congenital amaurosis 7
Cone-rod dystrophy 2

Criteria Provided
Single Submitter

CA406630814

rs_2514256097

1 SubmittersRCV003038465

NM_000329.3(RPE65):c.1269C>A (p.Tyr423Ter)

SNV
Germline

Chr1:68431351

Pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20

Criteria Provided
Single Submitter

CA340742621

rs_1355323529

1 SubmittersRCV003059569

NM_201253.3(CRB1):c.716G>A (p.Cys239Tyr)

SNV
Germline

Chr1:197344344

Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344083242

rs_771079655

1 SubmittersRCV003050338

NM_152443.3(RDH12):c.848+1G>C

SNV
Germline

Chr14:67729381

Pathogenic

Leber congenital amaurosis 13

Criteria Provided
Single Submitter

CA390153550

rs_745369888

1 SubmittersRCV003056244

NM_000180.4(GUCY2D):c.2264-1G>A

SNV
Germline

Chr17:8013879

Likely pathogenic

Cone-rod dystrophy 6
Leber congenital amaurosis 1

Criteria Provided
Single Submitter

CA397953050

rs_2545425310

1 SubmittersRCV003066125

NM_201253.3(CRB1):c.2129-2A>C

SNV
Germline

Chr1:197427452

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344036257

rs_2125483466

1 SubmittersRCV003040565

NM_022787.4(NMNAT1):c.648G>A (p.Trp216Ter)

SNV
Germline

Chr1:9982509

Pathogenic

Leber congenital amaurosis 9

Criteria Provided
Single Submitter

CA18240259

rs_1025005830

1 SubmittersRCV003048100

NM_020366.4(RPGRIP1):c.3620T>G (p.Leu1207Ter)

SNV
Germline

Chr14:21348174

Likely pathogenic

Leber congenital amaurosis

Criteria Provided
Single Submitter

CA388857945

rs_2502980632

1 SubmittersRCV003123514

NM_000329.3(RPE65):c.119G>A (p.Gly40Asp)

SNV
Germline

Chr1:68446836

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA340749254

rs_2523452284

2 SubmittersRCV003133792 RCV003778716

NM_003322.6(TULP1):c.1518C>A (p.Phe506Leu)

SNV
Germline

Chr6:35498438

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 15
not specified

Criteria Provided
Conflicting Classifications

CA363778352

rs_764536885

3 SubmittersRCV003139197 RCV004820942 RCV004783041

NM_014336.5(AIPL1):c.40A>G (p.Lys14Glu)

SNV
Unknown

Chr17:6435065

Likely pathogenic

Leber congenital amaurosis 4

Criteria Provided
Single Submitter

CA397397850

rs_2543921956

1 SubmittersRCV003152894

NM_018418.5(SPATA7):c.136C>T (p.Gln46Ter)

SNV
Germline

Chr14:88393434

Likely pathogenic

Leber congenital amaurosis

Criteria Provided
Single Submitter

CA390546449

rs_1472791220

1 SubmittersRCV003155610

NM_000329.3(RPE65):c.644-2A>G

SNV
Germline

Chr1:68439644

Likely pathogenic

Leber congenital amaurosis
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA340746084

rs_61752891

3 SubmittersRCV003226664 RCV003466042 RCV003779809

NM_025114.4(CEP290):c.2992-1G>T

SNV
Germline

Chr12:88097000

Likely pathogenic

CEP290-related disorder
Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6
Joubert syndrome 5
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA386007291

rs_2037480294

2 SubmittersRCV003226856 RCV005003038

NM_201253.3(CRB1):c.3017C>A (p.Ser1006Tyr)

SNV
Germline

Chr1:197434880

Pathogenic/Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA344044595

rs_878853367

2 SubmittersRCV003228863 RCV003475547

NM_000329.3(RPE65):c.1088C>T (p.Pro363Leu)

SNV
Germline

Chr1:68438227

Conflicting classifications of pathogenicity

not specified
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Retinitis pigmentosa 87 with choroidal involvement

Criteria Provided
Conflicting Classifications

CA340744119

rs_1158240863

2 SubmittersRCV003324349 RCV005029982

NM_018418.5(SPATA7):c.283C>T (p.Gln95Ter)

SNV
Germline

Chr14:88416755

Likely pathogenic

Leber congenital amaurosis

Criteria Provided
Single Submitter

CA390556249

rs_777598239

1 SubmittersRCV003324679

NM_000180.4(GUCY2D):c.2952C>A (p.Cys984Ter)

SNV
Germline

Chr17:8015750

Pathogenic/Likely pathogenic

Leber congenital amaurosis 1
Leber congenital amaurosis 1
Cone-rod dystrophy 6

Criteria Provided
Multiple Submitters
No Conflicts

CA397955095

rs_1395017892

2 SubmittersRCV003337852 RCV003777438

NM_001122769.3(LCA5):c.346C>T (p.Gln116Ter)

SNV
Unknown

Chr6:79513586

Pathogenic

Leber congenital amaurosis 5

Criteria Provided
Single Submitter

CA364629426

rs_2533439828

1 SubmittersRCV003389570

NM_015272.5(RPGRIP1L):c.872A>G (p.Gln291Arg)

SNV
Unknown

Chr16:53675027

Likely pathogenic

Leber congenital amaurosis

Criteria Provided
Single Submitter

CA395923099

rs_1236687801

1 SubmittersRCV003389611

NM_152443.3(RDH12):c.164C>A (p.Thr55Lys)

SNV
Unknown

Chr14:67724568

Likely pathogenic

Leber congenital amaurosis 13

Criteria Provided
Single Submitter

CA390148228

rs_766631462

1 SubmittersRCV003471818

NM_152443.3(RDH12):c.178G>A (p.Ala60Thr)

SNV
Unknown

Chr14:67724582

Pathogenic

Leber congenital amaurosis 13

Criteria Provided
Single Submitter

CA7238623

rs_749038454

1 SubmittersRCV003463492

NM_152443.3(RDH12):c.617C>T (p.Ala206Val)

SNV
Germline

Chr14:67727149

Pathogenic/Likely pathogenic

Leber congenital amaurosis 13
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA390151518

rs_1254096311

3 SubmittersRCV003463494 RCV005407164

NM_152443.3(RDH12):c.188-2A>G

SNV
Germline

Chr14:67725097

Likely pathogenic

Leber congenital amaurosis 13

Criteria Provided
Multiple Submitters
No Conflicts

CA390148456

rs_1228568835

2 SubmittersRCV003471821

NM_152443.3(RDH12):c.187+1G>C

SNV
Unknown

Chr14:67724592

Likely pathogenic

Leber congenital amaurosis 13

Criteria Provided
Single Submitter

CA390148380

rs_201102789

1 SubmittersRCV003463497

NM_152443.3(RDH12):c.617C>A (p.Ala206Asp)

SNV
Germline

Chr14:67727149

Likely pathogenic

Leber congenital amaurosis 13
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA390151514

rs_1254096311

3 SubmittersRCV003463499 RCV004701069

NM_000329.3(RPE65):c.1345A>T (p.Lys449Ter)

SNV
Unknown

Chr1:68431170

Likely pathogenic

Leber congenital amaurosis 2

Criteria Provided
Single Submitter

CA340742293

rs_2523401947

1 SubmittersRCV003466242

NM_000329.3(RPE65):c.1339-1G>C

SNV
Unknown

Chr1:68431177

Likely pathogenic

Leber congenital amaurosis 2

Criteria Provided
Single Submitter

CA340742323

rs_1480368460

1 SubmittersRCV003466246

NM_000329.3(RPE65):c.999-1G>T

SNV
Unknown

Chr1:68438317

Pathogenic

Leber congenital amaurosis 2

Criteria Provided
Single Submitter

CA340744496

rs_2523423126

1 SubmittersRCV003466247

NM_000329.3(RPE65):c.354-2A>G

SNV
Germline

Chr1:68444674

Pathogenic

Leber congenital amaurosis 2
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA340748044

rs_2523445043

2 SubmittersRCV003466249 RCV004595864

NM_000329.3(RPE65):c.353+1G>A

SNV
Unknown

Chr1:68444775

Likely pathogenic

Leber congenital amaurosis 2

Criteria Provided
Single Submitter

CA340748075

rs_61752876

1 SubmittersRCV003466252

NM_000329.3(RPE65):c.208T>G (p.Phe70Val)

SNV
Germline

Chr1:68446747

Conflicting classifications of pathogenicity

Leber congenital amaurosis 2
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA340748974

rs_1645945392

2 SubmittersRCV003466254 RCV004818348

NM_000329.3(RPE65):c.1503T>A (p.Tyr501Ter)

SNV
Unknown

Chr1:68429875

Pathogenic

Leber congenital amaurosis 2

Criteria Provided
Single Submitter

CA340741228

rs_2523396663

1 SubmittersRCV003466255

NM_000329.3(RPE65):c.36C>G (p.Tyr12Ter)

SNV
Unknown

Chr1:68448682

Likely pathogenic

Leber congenital amaurosis 2

Criteria Provided
Single Submitter

CA340750300

rs_1233702775

1 SubmittersRCV003466257

NM_000329.3(RPE65):c.859-1G>A

SNV
Unknown

Chr1:68439082

Likely pathogenic

Leber congenital amaurosis 2

Criteria Provided
Single Submitter

CA340745288

rs_2523425771

1 SubmittersRCV003466258

NM_001122769.3(LCA5):c.955+1G>A

SNV
Unknown

Chr6:79492550

Likely pathogenic

Leber congenital amaurosis 5

Criteria Provided
Single Submitter

CA364644387

rs_1481559911

1 SubmittersRCV003469931

NM_001122769.3(LCA5):c.1553T>A (p.Leu518Ter)

SNV
Unknown

Chr6:79487545

Likely pathogenic

Leber congenital amaurosis 5

Criteria Provided
Single Submitter

CA364640127

rs_2533369525

1 SubmittersRCV003469933

NM_001122769.3(LCA5):c.1236G>A (p.Trp412Ter)

SNV
Unknown

Chr6:79487862

Likely pathogenic

Leber congenital amaurosis 5

Criteria Provided
Single Submitter

CA364641394

rs_761872177

1 SubmittersRCV003469935

NM_001122769.3(LCA5):c.1795G>T (p.Glu599Ter)

SNV
Unknown

Chr6:79487303

Likely pathogenic

Leber congenital amaurosis 5

Criteria Provided
Single Submitter

CA364638377

rs_2533368021

1 SubmittersRCV003469937

NM_001122769.3(LCA5):c.1099-1G>A

SNV
Unknown

Chr6:79489217

Likely pathogenic

Leber congenital amaurosis 5

Criteria Provided
Single Submitter

CA364642803

rs_2533378064

1 SubmittersRCV003469939

NM_201253.3(CRB1):c.2172T>A (p.Tyr724Ter)

SNV
Germline

Chr1:197427497

Pathogenic

Leber congenital amaurosis 8
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Multiple Submitters
No Conflicts

CA344036465

rs_752824817

2 SubmittersRCV003475747 RCV003779164

NM_201253.3(CRB1):c.918G>A (p.Trp306Ter)

SNV
Germline

Chr1:197347409

Likely pathogenic

Leber congenital amaurosis 8
Leber congenital amaurosis

Criteria Provided
Single Submitter

CA344084116

rs_2527646571

2 SubmittersRCV003475748 RCV005616649

NM_201253.3(CRB1):c.1078G>T (p.Glu360Ter)

SNV
Unknown

Chr1:197356920

Likely pathogenic

Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344084488

rs_2527715988

1 SubmittersRCV003475750

NM_201253.3(CRB1):c.3749+1G>C

SNV
Unknown

Chr1:197435613

Likely pathogenic

Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344050708

rs_2125501295

1 SubmittersRCV003475751

NM_201253.3(CRB1):c.3415C>T (p.Gln1139Ter)

SNV
Germline

Chr1:197435278

Likely pathogenic

Leber congenital amaurosis 8
Leber congenital amaurosis

Criteria Provided
Single Submitter

CA344047676

rs_2528202094

2 SubmittersRCV003475755 RCV005616650

NM_201253.3(CRB1):c.1465G>T (p.Glu489Ter)

SNV
Unknown

Chr1:197421293

Pathogenic

Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344031030

rs_1389085632

1 SubmittersRCV003475756

NM_201253.3(CRB1):c.848+2T>C

SNV
Unknown

Chr1:197344478

Likely pathogenic

Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344083664

rs_746787047

1 SubmittersRCV003475758

NM_201253.3(CRB1):c.2677-1G>T

SNV
Unknown

Chr1:197429448

Likely pathogenic

Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344040335

rs_2528165070

1 SubmittersRCV003475759

NM_201253.3(CRB1):c.624T>G (p.Tyr208Ter)

SNV
Germline

Chr1:197328975

Pathogenic/Likely pathogenic

Leber congenital amaurosis 8
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Multiple Submitters
No Conflicts

CA344081701

rs_1658697788

3 SubmittersRCV003475761 RCV003779166

NM_201253.3(CRB1):c.456T>A (p.Cys152Ter)

SNV
Unknown

Chr1:197328807

Likely pathogenic

Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344085815

rs_2465030583

1 SubmittersRCV003475765

NM_201253.3(CRB1):c.679G>T (p.Glu227Ter)

SNV
Unknown

Chr1:197344307

Likely pathogenic

Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344083152

rs_190037839

1 SubmittersRCV003475766

NM_201253.3(CRB1):c.3157A>G (p.Met1053Val)

SNV
Germline

Chr1:197435020

Conflicting classifications of pathogenicity

Leber congenital amaurosis 8
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Conflicting Classifications

CA1312284

rs_763369093

2 SubmittersRCV003475771 RCV005220724

NM_201253.3(CRB1):c.2035C>T (p.Gln679Ter)

SNV
Unknown

Chr1:197421863

Likely pathogenic

Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344033660

rs_62636286

1 SubmittersRCV003475773

NM_201253.3(CRB1):c.2676+1G>A

SNV
Unknown

Chr1:197428002

Likely pathogenic

Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344038684

rs_1664686689

1 SubmittersRCV003475774

NM_201253.3(CRB1):c.3712T>C (p.Cys1238Arg)

SNV
Unknown

Chr1:197435575

Likely pathogenic

Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA1312380

rs_772032607

1 SubmittersRCV003475777

NM_201253.3(CRB1):c.1219C>T (p.Gln407Ter)

SNV
Unknown

Chr1:197421047

Likely pathogenic

Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344028308

rs_2528103992

1 SubmittersRCV003475783

NM_201253.3(CRB1):c.1003C>T (p.Gln335Ter)

SNV
Germline

Chr1:197356845

Pathogenic/Likely pathogenic

Leber congenital amaurosis 8
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Multiple Submitters
No Conflicts

CA344084324

rs_2527715135

2 SubmittersRCV003475786 RCV005220725

NM_201253.3(CRB1):c.2246C>G (p.Ser749Ter)

SNV
Unknown

Chr1:197427571

Likely pathogenic

Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344036797

rs_2528148223

1 SubmittersRCV003475787

NM_201253.3(CRB1):c.3318T>G (p.Tyr1106Ter)

SNV
Unknown

Chr1:197435181

Likely pathogenic

Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344047058

rs_186077696

1 SubmittersRCV003475788

NM_201253.3(CRB1):c.2536G>T (p.Gly846Ter)

SNV
Germline

Chr1:197427861

Pathogenic

Leber congenital amaurosis 8
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA344038108

rs_539189291

2 SubmittersRCV003475790 RCV004818356

NM_025114.4(CEP290):c.3739C>T (p.Gln1247Ter)

SNV
Germline

Chr12:88089322

Likely pathogenic

Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Leber congenital amaurosis 10
Meckel syndrome, type 4
Joubert syndrome 5
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA6712094

rs_758878983

2 SubmittersRCV003466685 RCV005012981

NM_025114.4(CEP290):c.4943C>G (p.Ser1648Ter)

SNV
Germline

Chr12:88083100

Likely pathogenic

Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Leber congenital amaurosis 10
Meckel syndrome, type 4
Joubert syndrome 5
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA385992803

rs_2499957266

2 SubmittersRCV003466687 RCV005012982

NM_025114.4(CEP290):c.3736G>T (p.Glu1246Ter)

SNV
Germline

Chr12:88089325

Likely pathogenic

Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Leber congenital amaurosis 10
Meckel syndrome, type 4
Joubert syndrome 5
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA386000812

rs_2500112760

2 SubmittersRCV003466716 RCV005003647

NM_025114.4(CEP290):c.2569A>T (p.Lys857Ter)

SNV
Germline

Chr12:88107013

Pathogenic

Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Meckel syndrome, type 4
Joubert syndrome 5
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA385971769

rs_1168542133

3 SubmittersRCV003466742 RCV005003648 RCV003779157

NM_152443.3(RDH12):c.229G>T (p.Glu77Ter)

SNV
Germline

Chr14:67725140

Pathogenic

Leber congenital amaurosis 13
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA390148563

rs_2038170208

3 SubmittersRCV003499983 RCV004701736

NM_014336.5(AIPL1):c.809G>A (p.Arg270His)

SNV
Germline

Chr17:6425806

Likely pathogenic

Leber congenital amaurosis 4
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA397394879

rs_2543878362

2 SubmittersRCV003506581 RCV005419655

NM_014336.5(AIPL1):c.572T>C (p.Leu191Pro)

SNV
Germline

Chr17:6426951

Pathogenic

Leber congenital amaurosis 4

Criteria Provided
Single Submitter

CA397395475

rs_1567637144

1 SubmittersRCV003506582

NM_014336.5(AIPL1):c.152A>G (p.Asp51Gly)

SNV
Germline

Chr17:6434043

Pathogenic/Likely pathogenic

Leber congenital amaurosis 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA397397594

rs_1336690304

3 SubmittersRCV003506583 RCV003885354

NM_022787.4(NMNAT1):c.721C>T (p.Pro241Ser)

SNV
Germline

Chr1:9982582

Pathogenic

Leber congenital amaurosis 9

Criteria Provided
Single Submitter

CA338687213

rs_2522304453

1 SubmittersRCV003527180

NM_014336.5(AIPL1):c.88G>T (p.Gly30Ter)

SNV
Germline

Chr17:6435017

Pathogenic

Leber congenital amaurosis 4

Criteria Provided
Single Submitter

CA397397751

rs_145112457

1 SubmittersRCV003504839

NM_001122769.3(LCA5):c.110C>A (p.Ser37Ter)

SNV
Germline

Chr6:79518785

Pathogenic

Condition: not provided
Leber congenital amaurosis 5

Criteria Provided
Single Submitter

CA364631692

rs_374135825

2 SubmittersRCV003580263 RCV005616691

NM_014336.5(AIPL1):c.454G>T (p.Glu152Ter)

SNV
Germline

Chr17:6428329

Pathogenic

Leber congenital amaurosis 4

Criteria Provided
Single Submitter

CA397396042

rs_150886208

1 SubmittersRCV003614482

NM_014336.5(AIPL1):c.1A>G (p.Met1Val)

SNV
Germline

Chr17:6435104

Pathogenic

Leber congenital amaurosis 4

Criteria Provided
Single Submitter

CA8328685

rs_757900399

1 SubmittersRCV003613535

NM_152443.3(RDH12):c.843C>G (p.Tyr281Ter)

SNV
Germline

Chr14:67729375

Pathogenic

Leber congenital amaurosis 13

Criteria Provided
Single Submitter

CA390153513

rs_1344063890

1 SubmittersRCV003604294

NM_014336.5(AIPL1):c.621C>A (p.Cys207Ter)

SNV
Germline

Chr17:6426902

Pathogenic

Leber congenital amaurosis 4

Criteria Provided
Single Submitter

CA397395373

rs_2543885495

1 SubmittersRCV003614000

NM_022787.4(NMNAT1):c.254G>A (p.Trp85Ter)

SNV
Germline

Chr1:9975730

Pathogenic

Leber congenital amaurosis 9

Criteria Provided
Single Submitter

CA338685061

rs_2522248595

1 SubmittersRCV003639347

NM_152443.3(RDH12):c.343+1G>A

SNV
Germline

Chr14:67725255

Pathogenic

Leber congenital amaurosis 13

Criteria Provided
Single Submitter

CA390148965

rs_2503799127

1 SubmittersRCV003603835

NM_152443.3(RDH12):c.137G>A (p.Gly46Asp)

SNV
Germline

Chr14:67724541

Likely pathogenic

Leber congenital amaurosis 13

No Assertion Criteria Provided

1 SubmittersRCV004691625

NM_014336.5(AIPL1):c.784+2T>A

SNV
Germline

Chr17:6426613

Likely pathogenic

Leber congenital amaurosis 4

No Assertion Criteria Provided

1 SubmittersRCV004691627

NM_000180.4(GUCY2D):c.2769+1G>A

SNV
Germline

Chr17:8015052

Likely pathogenic

Leber congenital amaurosis 1
Cone-rod dystrophy 6

Criteria Provided
Single Submitter

CA397954285

rs_2545426444

1 SubmittersRCV003785526

NM_000554.6(CRX):c.682C>T (p.Gln228Ter)

SNV
Germline

Chr19:47839749

Pathogenic/Likely pathogenic

Leber congenital amaurosis 7
Cone-rod dystrophy 2
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA406631545

rs_2514256545

2 SubmittersRCV003783737 RCV005235731

NM_001001557.4(GDF6):c.625C>T (p.Pro209Ser)

SNV
Germline

Chr8:96145306

Conflicting classifications of pathogenicity

Klippel-Feil syndrome 1, autosomal dominant
Isolated microphthalmia 4
Microphthalmia, isolated, with coloboma 6
Leber congenital amaurosis 17
not specified

Criteria Provided
Conflicting Classifications

CA371752211

rs_1368221807

2 SubmittersRCV003784337 RCV005435297

NM_000329.3(RPE65):c.1339-2A>G

SNV
Germline

Chr1:68431178

Likely pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

CA340742329

rs_1645823354

1 SubmittersRCV003781938

NM_201253.3(CRB1):c.2129-1G>A

SNV
Germline

Chr1:197427453

Pathogenic/Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA344036264

rs_1664642051

2 SubmittersRCV003797797 RCV005013189

NM_201253.3(CRB1):c.535C>T (p.Gln179Ter)

SNV
Germline

Chr1:197328886

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344085985

rs_1658690599

1 SubmittersRCV003798070

NM_201253.3(CRB1):c.3538G>T (p.Glu1180Ter)

SNV
Germline

Chr1:197435401

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA1312355

rs_149216103

1 SubmittersRCV003782856

NM_000329.3(RPE65):c.725+1G>T

SNV
Germline

Chr1:68439560

Pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20

Criteria Provided
Single Submitter

CA340745902

rs_1260969698

1 SubmittersRCV003782954

NM_000180.4(GUCY2D):c.185G>A (p.Trp62Ter)

SNV
Germline

Chr17:8003232

Pathogenic

Leber congenital amaurosis 1
Cone-rod dystrophy 6

Criteria Provided
Single Submitter

CA397942911

rs_1975665578

1 SubmittersRCV003780575

NM_000329.3(RPE65):c.726-1G>A

SNV
Germline

Chr1:68439324

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

CA340745896

rs_2523426837

1 SubmittersRCV003780947

NM_201253.3(CRB1):c.2371G>C (p.Gly791Arg)

SNV
Germline

Chr1:197427696

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA344037070

rs_2528150148

1 SubmittersRCV003780956

NM_201253.3(CRB1):c.2815T>G (p.Cys939Gly)

SNV
Germline

Chr1:197429587

Pathogenic/Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA344041303

rs_1664775504

2 SubmittersRCV003780959 RCV004573304

NM_201253.3(CRB1):c.2966T>C (p.Ile989Thr)

SNV
Germline

Chr1:197434829

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA344044069

rs_2528196742

1 SubmittersRCV003780960

NM_201253.3(CRB1):c.3687C>A (p.Cys1229Ter)

SNV
Germline

Chr1:197435550

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12
CRB1-related disorder

Criteria Provided
Single Submitter

CA344050438

rs_2528205083

2 SubmittersRCV003780962 RCV004539124

NM_025114.4(CEP290):c.3309+16T>G

SNV
Germline

Chr12:88093754

Conflicting classifications of pathogenicity

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome 5
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Leber congenital amaurosis 10
Meckel syndrome, type 4

Criteria Provided
Conflicting Classifications

CA606675736

rs_1400483491

2 SubmittersRCV003781036 RCV005013180

NM_000180.4(GUCY2D):c.186G>A (p.Trp62Ter)

SNV
Germline

Chr17:8003233

Pathogenic

Leber congenital amaurosis 1
Cone-rod dystrophy 6

Criteria Provided
Single Submitter

CA397942914

rs_2545417489

1 SubmittersRCV003783692

NM_000180.4(GUCY2D):c.308A>T (p.Glu103Val)

SNV
Germline

Chr17:8003355

Pathogenic

Leber congenital amaurosis 1
Cone-rod dystrophy 6

Criteria Provided
Single Submitter

CA397943161

rs_2545417716

1 SubmittersRCV003783693

NM_000180.4(GUCY2D):c.450G>A (p.Trp150Ter)

SNV
Germline

Chr17:8003497

Pathogenic

Leber congenital amaurosis 1
Cone-rod dystrophy 6

Criteria Provided
Single Submitter

CA397943654

rs_2545418010

1 SubmittersRCV003783694

NM_000180.4(GUCY2D):c.1116G>A (p.Trp372Ter)

SNV
Germline

Chr17:8006452

Pathogenic

Leber congenital amaurosis 1
Cone-rod dystrophy 6

Criteria Provided
Single Submitter

CA397947776

rs_770255396

1 SubmittersRCV003783697

NM_000180.4(GUCY2D):c.2080C>T (p.Gln694Ter)

SNV
Germline

Chr17:8012573

Pathogenic

Leber congenital amaurosis 1
Cone-rod dystrophy 6

Criteria Provided
Single Submitter

CA8365985

rs_61750164

1 SubmittersRCV003783699

NM_000180.4(GUCY2D):c.2113+1G>A

SNV
Germline

Chr17:8012607

Pathogenic

Leber congenital amaurosis 1
Cone-rod dystrophy 6

Criteria Provided
Single Submitter

CA397952680

rs_2545424362

1 SubmittersRCV003783700

NM_000180.4(GUCY2D):c.2576+1G>A

SNV
Germline

Chr17:8014765

Likely pathogenic

Leber congenital amaurosis 1
Cone-rod dystrophy 6

Criteria Provided
Single Submitter

CA8366158

rs_772444228

1 SubmittersRCV003783701

NM_000180.4(GUCY2D):c.3020C>T (p.Ser1007Leu)

SNV
Germline

Chr17:8015818

Likely pathogenic

Leber congenital amaurosis 1
Cone-rod dystrophy 6

Criteria Provided
Single Submitter

CA397955379

rs_1738565324

1 SubmittersRCV003783702

NM_201253.3(CRB1):c.454T>C (p.Cys152Arg)

SNV
Germline

Chr1:197328805

Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA344085810

rs_2465030529

1 SubmittersRCV003781154

NM_000554.6(CRX):c.606C>A (p.Cys202Ter)

SNV
Germline

Chr19:47839673

Pathogenic

Leber congenital amaurosis 7
Cone-rod dystrophy 2

Criteria Provided
Single Submitter

CA406631242

rs_764877352

1 SubmittersRCV003781754

NM_000180.4(GUCY2D):c.1026+2T>C

SNV
Germline

Chr17:8004158

Likely pathogenic

Leber congenital amaurosis 1
Cone-rod dystrophy 6

Criteria Provided
Single Submitter

CA287523718

rs_1000501472

1 SubmittersRCV003793278

NM_025114.4(CEP290):c.2052+1G>A

SNV
Germline

Chr12:88114419

Likely pathogenic

Joubert syndrome 5
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Leber congenital amaurosis 10
Meckel syndrome, type 4
Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA385976715

rs_2038915208

3 SubmittersRCV005003714 RCV003793380 RCV004573320

NM_025114.4(CEP290):c.1360-1G>C

SNV
Germline

Chr12:88120277

Likely pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome 5
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Leber congenital amaurosis 10
Meckel syndrome, type 4

Criteria Provided
Multiple Submitters
No Conflicts

CA385980285

rs_2501054131

2 SubmittersRCV003779392 RCV005003707

NM_025114.4(CEP290):c.2258C>A (p.Ser753Ter)

SNV
Germline

Chr12:88111311

Pathogenic/Likely pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome 5
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Leber congenital amaurosis 10
Meckel syndrome, type 4

Criteria Provided
Multiple Submitters
No Conflicts

CA385974663

rs_2500744133

2 SubmittersRCV003780009 RCV004796843

NM_000329.3(RPE65):c.12-2A>T

SNV
Germline

Chr1:68448708

Likely pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20

Criteria Provided
Single Submitter

CA340750359

rs_1400678650

1 SubmittersRCV003782613

NM_025114.4(CEP290):c.669+15A>G

SNV
Germline

Chr12:88130253

Conflicting classifications of pathogenicity

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome 5
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Leber congenital amaurosis 10
Meckel syndrome, type 4

Criteria Provided
Conflicting Classifications

CA606454199

rs_1165909730

2 SubmittersRCV003789091 RCV005003709

NM_201253.3(CRB1):c.222C>A (p.Cys74Ter)

SNV
Germline

Chr1:197328573

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA344085303

rs_772819260

1 SubmittersRCV003787130

NM_201253.3(CRB1):c.1623C>A (p.Tyr541Ter)

SNV
Germline

Chr1:197421451

Pathogenic/Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA344031741

rs_1256037063

2 SubmittersRCV003789290 RCV004573312

NM_201253.3(CRB1):c.2129-2A>G

SNV
Germline

Chr1:197427452

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA344036259

rs_2125483466

2 SubmittersRCV003792849 RCV005013187

NM_000329.3(RPE65):c.644-1G>A

SNV
Germline

Chr1:68439643

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

CA340746083

rs_61752892

1 SubmittersRCV003795314

NM_201253.3(CRB1):c.1571T>C (p.Leu524Pro)

SNV
Germline

Chr1:197421399

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA1311934

rs_762223255

1 SubmittersRCV003790162

NM_000329.3(RPE65):c.1250A>G (p.Glu417Gly)

SNV
Germline

Chr1:68431370

Likely pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA340742706

rs_2523403039

2 SubmittersRCV003790390 RCV005240933

NM_025114.4(CEP290):c.298-15G>A

SNV
Germline

Chr12:88136801

Conflicting classifications of pathogenicity

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome 5
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Leber congenital amaurosis 10
Meckel syndrome, type 4

Criteria Provided
Conflicting Classifications

CA6712837

rs_756197493

2 SubmittersRCV003787834 RCV005013178

NM_020366.4(RPGRIP1):c.2236G>A (p.Gly746Arg)

SNV
Germline

Chr14:21325252

Pathogenic/Likely pathogenic

Leber congenital amaurosis 6
Cone-rod dystrophy 13
Leber congenital amaurosis 6

Criteria Provided
Multiple Submitters
No Conflicts

CA7089200

rs_535695411

3 SubmittersRCV003788383 RCV004759292

NM_000180.4(GUCY2D):c.1753C>T (p.Gln585Ter)

SNV
Germline

Chr17:8012147

Pathogenic

Leber congenital amaurosis 1
Cone-rod dystrophy 6

Criteria Provided
Single Submitter

CA8365890

rs_776817542

1 SubmittersRCV003786522

NM_025114.4(CEP290):c.6522+18G>C

SNV
Germline

Chr12:88060812

Conflicting classifications of pathogenicity

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome 5
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Leber congenital amaurosis 10
Meckel syndrome, type 4

Criteria Provided
Conflicting Classifications

CA606675628

rs_1359522025

2 SubmittersRCV003786965 RCV005003710

NM_201253.3(CRB1):c.1147T>G (p.Cys383Gly)

SNV
Germline

Chr1:197356989

Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344084631

rs_1571897130

1 SubmittersRCV003784984

NM_000329.3(RPE65):c.858+1G>C

SNV
Germline

Chr1:68439190

Pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20

Criteria Provided
Single Submitter

CA340745358

rs_61752899

1 SubmittersRCV003794227

NM_201253.3(CRB1):c.3898G>T (p.Glu1300Ter)

SNV
Germline

Chr1:197442185

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA344052443

rs_2528243560

1 SubmittersRCV003806234

NM_201253.3(CRB1):c.2687G>T (p.Cys896Phe)

SNV
Germline

Chr1:197429459

Conflicting classifications of pathogenicity

Leber congenital amaurosis 8
Retinitis pigmentosa 12
not specified

Criteria Provided
Conflicting Classifications

CA344040378

rs_1571544334

2 SubmittersRCV003808255 RCV004801403

NM_025114.4(CEP290):c.1790T>A (p.Leu597Ter)

SNV
Germline

Chr12:88117067

Pathogenic/Likely pathogenic

Joubert syndrome 5
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Leber congenital amaurosis 10
Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA385978111

rs_2500867184

2 SubmittersRCV005003719 RCV003808415

NM_000329.3(RPE65):c.366C>A (p.Tyr122Ter)

SNV
Germline

Chr1:68444660

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

CA340747977

rs_1479443954

1 SubmittersRCV003806552

NM_000180.4(GUCY2D):c.2577-2A>G

SNV
Germline

Chr17:8014857

Likely pathogenic

Leber congenital amaurosis 1
Cone-rod dystrophy 6

Criteria Provided
Single Submitter

CA397953857

rs_1975931968

1 SubmittersRCV003806645

NM_020366.4(RPGRIP1):c.3533-2A>G

SNV
Germline

Chr14:21345111

Likely pathogenic

Cone-rod dystrophy 13
Leber congenital amaurosis 6

Criteria Provided
Single Submitter

CA388857430

rs_1416794391

1 SubmittersRCV003790886

NM_020366.4(RPGRIP1):c.3100-1G>A

SNV
Germline

Chr14:21330248

Likely pathogenic

Cone-rod dystrophy 13
Leber congenital amaurosis 6
Retinal dystrophy

Criteria Provided
Single Submitter

CA257536560

rs_371900300

2 SubmittersRCV003791448 RCV004818414

NM_025114.4(CEP290):c.3577C>T (p.Gln1193Ter)

SNV
Germline

Chr12:88089484

Pathogenic/Likely pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome 5
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Leber congenital amaurosis 10

Criteria Provided
Multiple Submitters
No Conflicts

CA386001394

rs_2500121621

2 SubmittersRCV003791609 RCV005013192

NM_025114.4(CEP290):c.2194C>T (p.Gln732Ter)

SNV
Germline

Chr12:88111717

Pathogenic/Likely pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome 5
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Leber congenital amaurosis 10

Criteria Provided
Multiple Submitters
No Conflicts

CA385974857

rs_1438792443

2 SubmittersRCV003805604 RCV005013194

NM_025114.4(CEP290):c.516+1G>A

SNV
Germline

Chr12:88130544

Likely pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
CEP290-related disorder
Joubert syndrome 5
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Leber congenital amaurosis 10
Meckel syndrome, type 4

Criteria Provided
Multiple Submitters
No Conflicts

CA6712765

rs_779409629

4 SubmittersRCV003805876 RCV004733652 RCV005003718 RCV005407255

NM_000329.3(RPE65):c.55G>A (p.Val19Met)

SNV
Germline

Chr1:68448663

Likely pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA340750220

rs_1645959896

2 SubmittersRCV003805986 RCV004527467

NM_201253.3(CRB1):c.70+1G>C

SNV
Germline

Chr1:197268483

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA344082565

rs_1237424465

1 SubmittersRCV003803957

NM_000554.6(CRX):c.37G>C (p.Val13Leu)

SNV
Germline

Chr19:47834480

Conflicting classifications of pathogenicity

Cone-rod dystrophy 2
Leber congenital amaurosis 7
not specified

Criteria Provided
Conflicting Classifications

CA9544371

rs_752458888

2 SubmittersRCV003804293 RCV005435308

NM_000180.4(GUCY2D):c.1371C>A (p.Cys457Ter)

SNV
Germline

Chr17:8006707

Pathogenic

Cone-rod dystrophy 6
Leber congenital amaurosis 1

Criteria Provided
Single Submitter

CA397948593

rs_55916957

1 SubmittersRCV003799195

NM_025114.4(CEP290):c.441+1G>A

SNV
Germline

Chr12:88136642

Likely pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome 5
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Leber congenital amaurosis 10

Criteria Provided
Multiple Submitters
No Conflicts

CA385987068

rs_1184012636

2 SubmittersRCV003799241 RCV005003716

NM_025114.4(CEP290):c.351T>C (p.Ile117=)

SNV
Germline

Chr12:88136733

Conflicting classifications of pathogenicity

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome
Retinal dystrophy
Leber congenital amaurosis

Criteria Provided
Conflicting Classifications

CA6712824

rs_771707256

3 SubmittersRCV003797651 RCV003889340 RCV005610612

NM_201253.3(CRB1):c.4207G>A (p.Glu1403Lys)

SNV
Germline

Chr1:197477865

Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA344036084

rs_1667269806

1 SubmittersRCV003800612

NM_201253.3(CRB1):c.2548G>T (p.Gly850Cys)

SNV
Germline

Chr1:197427873

Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA344038183

rs_776591659

1 SubmittersRCV003803136

NM_201253.3(CRB1):c.3288T>A (p.Cys1096Ter)

SNV
Germline

Chr1:197435151

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA344046997

rs_2528200607

1 SubmittersRCV003801097

NM_000329.3(RPE65):c.336C>A (p.Cys112Ter)

SNV
Germline

Chr1:68444793

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

CA340748160

rs_1448061146

1 SubmittersRCV003801208

NM_025114.4(CEP290):c.5754G>A (p.Trp1918Ter)

SNV
Germline

Chr12:88071882

Pathogenic/Likely pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome 5
Meckel syndrome, type 4
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA385985036

rs_2499744201

3 SubmittersRCV003801218 RCV005013196 RCV005616803

NM_000329.3(RPE65):c.1148T>G (p.Leu383Ter)

SNV
Germline

Chr1:68431566

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

CA23564445

rs_974466164

1 SubmittersRCV003795144

NM_000329.3(RPE65):c.95-1G>C

SNV
Germline

Chr1:68446861

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

CA340749358

rs_2523452435

1 SubmittersRCV003800197

NM_000329.3(RPE65):c.803G>A (p.Trp268Ter)

SNV
Germline

Chr1:68439246

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

CA340745704

rs_2523426491

1 SubmittersRCV003800685

NM_000180.4(GUCY2D):c.51C>A (p.Cys17Ter)

SNV
Germline

Chr17:8003098

Pathogenic

Leber congenital amaurosis 1
Cone-rod dystrophy 6

Criteria Provided
Single Submitter

CA397942474

rs_2545417252

1 SubmittersRCV003800805

NM_025114.4(CEP290):c.2615C>A (p.Ser872Ter)

SNV
Germline

Chr12:88106877

Pathogenic/Likely pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Leber congenital amaurosis 10

Criteria Provided
Multiple Submitters
No Conflicts

CA385971529

rs_373341530

2 SubmittersRCV003808930 RCV005254878

NM_000329.3(RPE65):c.411C>G (p.Tyr137Ter)

SNV
Germline

Chr1:68444615

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

CA340747878

rs_1422501788

1 SubmittersRCV003809233

NM_000329.3(RPE65):c.646A>T (p.Lys216Ter)

SNV
Germline

Chr1:68439640

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

CA340746075

rs_1557600450

1 SubmittersRCV003804670

NM_018418.5(SPATA7):c.372+1G>A

SNV
Germline

Chr14:88416845

Likely pathogenic

Leber congenital amaurosis 3

Criteria Provided
Single Submitter

CA264525981

rs_777506416

1 SubmittersRCV003801888

NM_201253.3(CRB1):c.570T>A (p.Cys190Ter)

SNV
Germline

Chr1:197328921

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA344081579

rs_2465032365

1 SubmittersRCV003817820

NM_201253.3(CRB1):c.3914C>G (p.Pro1305Arg)

SNV
Germline

Chr1:197442201

Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA344052515

rs_1391910861

1 SubmittersRCV003809826

NM_000329.3(RPE65):c.513T>A (p.Tyr171Ter)

SNV
Germline

Chr1:68440983

Pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20

Criteria Provided
Single Submitter

CA340747196

rs_1294621553

1 SubmittersRCV003815220

NM_201253.3(CRB1):c.2297G>A (p.Trp766Ter)

SNV
Germline

Chr1:197427622

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA344036920

rs_2528148995

1 SubmittersRCV003815433

NM_201253.3(CRB1):c.2587G>T (p.Glu863Ter)

SNV
Germline

Chr1:197427912

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA344038408

rs_2125485227

1 SubmittersRCV003807353

NM_020366.4(RPGRIP1):c.1309C>T (p.Gln437Ter)

SNV
Germline

Chr14:21320019

Pathogenic

Leber congenital amaurosis 6
Cone-rod dystrophy 13

Criteria Provided
Single Submitter

CA388864578

rs_1279095388

1 SubmittersRCV003807396

NM_201253.3(CRB1):c.3495T>A (p.Cys1165Ter)

SNV
Germline

Chr1:197435358

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

CA344048359

rs_1665099725

1 SubmittersRCV003812639

NM_000180.4(GUCY2D):c.2632C>T (p.Gln878Ter)

SNV
Germline

Chr17:8014914

Pathogenic

Leber congenital amaurosis 1
Cone-rod dystrophy 6

Criteria Provided
Single Submitter

CA397953978

rs_2545426279

1 SubmittersRCV003810575

NM_201253.3(CRB1):c.2129-1G>T

SNV
Germline

Chr1:197427453

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

CA344036267

rs_1664642051

1 SubmittersRCV003813016

NM_000329.3(RPE65):c.1299T>A (p.Tyr433Ter)

SNV
Germline

Chr1:68431321

Pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20

Criteria Provided
Single Submitter

CA340742495

rs_763437650

1 SubmittersRCV003807241

NM_000329.3(RPE65):c.859-2A>C

SNV
Germline

Chr1:68439083

Likely pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20

Criteria Provided
Single Submitter

CA340745298

rs_980844308

1 SubmittersRCV003805052

NM_201253.3(CRB1):c.1244T>A (p.Leu415Ter)

SNV
Germline

Chr1:197421072

Pathogenic/Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA344029907

rs_760419335

2 SubmittersRCV003810306 RCV004794660

NM_152443.3(RDH12):c.106C>T (p.Gln36Ter)

SNV
Germline

Chr14:67724510

Pathogenic

Leber congenital amaurosis 13

Criteria Provided
Single Submitter

CA390147773

rs_867494661

1 SubmittersRCV003839591

NM_000329.3(RPE65):c.825C>A (p.Tyr275Ter)

SNV
Germline

Chr1:68439224

Pathogenic

Leber congenital amaurosis 2
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA340745588

rs_988133284

2 SubmittersRCV004573380 RCV003881705

NM_024426.6(WT1):c.1208G>T (p.Cys403Phe)

SNV
Germline

Chr11:32396313

Likely pathogenic

Leber congenital amaurosis 10
WT1-related disorder

Criteria Provided
Single Submitter

CA379959893

rs_121907904

2 SubmittersRCV004820960 RCV004550974

NM_025114.4(CEP290):c.1359+1G>T

SNV
Germline

Chr12:88120996

Likely pathogenic

Leber congenital amaurosis 10

Criteria Provided
Single Submitter

CA385980315

rs_935130451

1 SubmittersRCV003991657

NM_201253.3(CRB1):c.1690G>T (p.Asp564Tyr)

SNV
Germline

Chr1:197421518

Pathogenic/Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA344032088

rs_757279881

4 SubmittersRCV004573485 RCV005006434 RCV005220947 RCV004579629

NM_201253.3(CRB1):c.3652T>A (p.Cys1218Ser)

SNV
Germline

Chr1:197435515

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8

Criteria Provided
Conflicting Classifications

CA35907969

rs_968499207

2 SubmittersRCV004527131 RCV005006437

NM_152443.3(RDH12):c.867G>A (p.Trp289Ter)

SNV
Germline

Chr14:67733764

Likely pathogenic

Leber congenital amaurosis 13
Leber congenital amaurosis

Criteria Provided
Single Submitter

rs_757735668

2 SubmittersRCV004574718 RCV005610690

NM_000329.3(RPE65):c.1398C>G (p.Tyr466Ter)

SNV
Unknown

Chr1:68431117

Pathogenic

Leber congenital amaurosis 2

Criteria Provided
Single Submitter

rs_764189309

1 SubmittersRCV004574793

NM_201253.3(CRB1):c.3023T>G (p.Leu1008Ter)

SNV
Unknown

Chr1:197434886

Pathogenic

Leber congenital amaurosis 8

Criteria Provided
Single Submitter

rs_576795665

1 SubmittersRCV004575696

NM_201253.3(CRB1):c.3429C>A (p.Cys1143Ter)

SNV
Germline

Chr1:197435292

Pathogenic/Likely pathogenic

Leber congenital amaurosis 8
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Multiple Submitters
No Conflicts

rs_755489411

2 SubmittersRCV004575699 RCV005216259

NM_201253.3(CRB1):c.988+1G>T

SNV
Unknown

Chr1:197347480

Pathogenic

Leber congenital amaurosis 8

Criteria Provided
Single Submitter

rs_2527647377

1 SubmittersRCV004575700

NM_201253.3(CRB1):c.2842+1G>A

SNV
Unknown

Chr1:197429615

Likely pathogenic

Leber congenital amaurosis 8

Criteria Provided
Single Submitter

rs_2528167163

1 SubmittersRCV004575706

NM_001122769.3(LCA5):c.706G>T (p.Glu236Ter)

SNV
Unknown

Chr6:79513226

Likely pathogenic

Leber congenital amaurosis 5

Criteria Provided
Single Submitter

rs_377719240

1 SubmittersRCV004576797

NM_001122769.3(LCA5):c.1426A>T (p.Arg476Ter)

SNV
Unknown

Chr6:79487672

Likely pathogenic

Leber congenital amaurosis 5

Criteria Provided
Single Submitter

rs_2127665958

1 SubmittersRCV004576800

NM_001122769.3(LCA5):c.604T>C (p.Ser202Pro)

SNV
Unknown

Chr6:79513328

Likely pathogenic

Leber congenital amaurosis 5

Criteria Provided
Single Submitter

rs_2533438607

1 SubmittersRCV004576801

NM_001122769.3(LCA5):c.69C>A (p.Tyr23Ter)

SNV
Unknown

Chr6:79518826

Pathogenic

Leber congenital amaurosis 5

Criteria Provided
Single Submitter

rs_750725128

1 SubmittersRCV004576804

NM_001122769.3(LCA5):c.680C>A (p.Ser227Ter)

SNV
Unknown

Chr6:79513252

Likely pathogenic

Leber congenital amaurosis 5

Criteria Provided
Single Submitter

rs_2127679884

1 SubmittersRCV004576805

NM_001122769.3(LCA5):c.1490C>G (p.Ser497Ter)

SNV
Unknown

Chr6:79487608

Likely pathogenic

Leber congenital amaurosis 5

Criteria Provided
Single Submitter

rs_2533369844

1 SubmittersRCV004576806

NM_001122769.3(LCA5):c.721-2A>T

SNV
Unknown

Chr6:79493752

Likely pathogenic

Leber congenital amaurosis 5

Criteria Provided
Single Submitter

rs_1769905934

1 SubmittersRCV004576807

NM_020366.4(RPGRIP1):c.2021C>A (p.Pro674His)

SNV
Germline

Chr14:21324876

Likely pathogenic

Retinal dystrophy
Leber congenital amaurosis 6
Cone-rod dystrophy 13

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004817289 RCV005220957

NM_025114.4(CEP290):c.3310-1G>C

SNV
Germline

Chr12:88092833

Pathogenic

Retinal dystrophy
Leber congenital amaurosis

Criteria Provided
Single Submitter

2 SubmittersRCV004817453 RCV005610694

NM_025114.4(CEP290):c.982C>T (p.Gln328Ter)

SNV
Germline

Chr12:88126399

Pathogenic

Leber congenital amaurosis 10
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005254918 RCV004818783

NM_000329.3(RPE65):c.540C>A (p.His180Gln)

SNV
Germline

Chr1:68440956

Likely pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Retinitis pigmentosa 87 with choroidal involvement
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

rs_2100821857

2 SubmittersRCV005038731 RCV004586291

NM_025114.4(CEP290):c.5364+1G>A

SNV
Germline

Chr12:88079091

Likely pathogenic

Leber congenital amaurosis 10
Joubert syndrome 5
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Leber congenital amaurosis 10
Senior-Loken syndrome 6

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004596667 RCV005006455

NM_004744.5(LRAT):c.470T>C (p.Leu157Pro)

SNV
Germline

Chr4:154744796

Likely pathogenic

Leber congenital amaurosis

Criteria Provided
Single Submitter

1 SubmittersRCV004689544

NM_003322.6(TULP1):c.159C>A (p.Cys53Ter)

SNV
Germline

Chr6:35512211

Likely pathogenic

Leber congenital amaurosis 15

Criteria Provided
Single Submitter

1 SubmittersRCV004720647

NM_025114.4(CEP290):c.5187G>T (p.Arg1729=)

SNV
Germline

Chr12:88080221

Conflicting classifications of pathogenicity

CEP290-related disorder
Leber congenital amaurosis

No Assertion Criteria Provided

2 SubmittersRCV004724412 RCV005618375

NM_014336.5(AIPL1):c.601T>A (p.Tyr201Asn)

SNV
Germline

Chr17:6426922

Likely pathogenic

Leber congenital amaurosis 4
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004759497 RCV005419781

NM_152443.3(RDH12):c.200A>G (p.Tyr67Cys)

SNV
Germline

Chr14:67725111

Likely pathogenic

Leber congenital amaurosis 13

No Assertion Criteria Provided

1 SubmittersRCV004785244

NM_000329.3(RPE65):c.1021T>A (p.Leu341Ile)

SNV
Germline

Chr1:68438294

Likely pathogenic

Retinal dystrophy
Leber congenital amaurosis 2
Retinitis pigmentosa 20

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004795276 RCV005218333

NM_003322.6(TULP1):c.1592C>T (p.Ala531Val)

SNV
Germline

Chr6:35498364

Likely pathogenic

Retinitis pigmentosa 14
Leber congenital amaurosis 15

Criteria Provided
Single Submitter

1 SubmittersRCV004797066

NM_201253.3(CRB1):c.1617T>G (p.Ser539Arg)

SNV
Germline

Chr1:197421445

Pathogenic

Leber congenital amaurosis

Criteria Provided
Single Submitter

1 SubmittersRCV005419808

NM_201253.3(CRB1):c.2782T>C (p.Cys928Arg)

SNV
Germline

Chr1:197429554

Likely pathogenic

Cone-rod dystrophy
Leber congenital amaurosis

Criteria Provided
Single Submitter

1 SubmittersRCV005419846 RCV005419847

NM_201253.3(CRB1):c.3749G>A (p.Arg1250Lys)

SNV
Germline

Chr1:197435612

Likely pathogenic

Leber congenital amaurosis

Criteria Provided
Single Submitter

1 SubmittersRCV005417469

NM_014336.5(AIPL1):c.301T>C (p.Ser101Pro)

SNV
Germline

Chr17:6428482

Likely pathogenic

Leber congenital amaurosis

Criteria Provided
Single Submitter

1 SubmittersRCV005417473

NM_000180.4(GUCY2D):c.2263+1G>C

SNV
Germline

Chr17:8013253

Likely pathogenic

Leber congenital amaurosis

Criteria Provided
Single Submitter

1 SubmittersRCV005417475

NM_000329.3(RPE65):c.1244-1G>A

SNV
Germline

Chr1:68431377

Likely pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2
Retinitis pigmentosa 87 with choroidal involvement

Criteria Provided
Single Submitter

1 SubmittersRCV005029133

NM_025114.4(CEP290):c.6964A>T (p.Lys2322Ter)

SNV
Germline

Chr12:88054410

Pathogenic

Joubert syndrome 5
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Senior-Loken syndrome 6
Leber congenital amaurosis 10

Criteria Provided
Single Submitter

1 SubmittersRCV005005390

NM_025114.4(CEP290):c.6960+1G>A

SNV
Germline

Chr12:88055575

Likely pathogenic

Joubert syndrome 5
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Senior-Loken syndrome 6
Leber congenital amaurosis 10

Criteria Provided
Single Submitter

1 SubmittersRCV005011623

NM_025114.4(CEP290):c.6514A>T (p.Lys2172Ter)

SNV
Germline

Chr12:88060838

Likely pathogenic

Joubert syndrome 5
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Senior-Loken syndrome 6
Leber congenital amaurosis 10

Criteria Provided
Single Submitter

1 SubmittersRCV005005397

NM_025114.4(CEP290):c.6358-2A>C

SNV
Germline

Chr12:88060996

Likely pathogenic

Joubert syndrome 5
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Senior-Loken syndrome 6
Leber congenital amaurosis 10

Criteria Provided
Single Submitter

1 SubmittersRCV005011635

NM_025114.4(CEP290):c.6270+1G>A

SNV
Germline

Chr12:88063980

Likely pathogenic

Joubert syndrome 5
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Senior-Loken syndrome 6
Leber congenital amaurosis 10

Criteria Provided
Single Submitter

1 SubmittersRCV005005399

NM_025114.4(CEP290):c.5881C>T (p.Gln1961Ter)

SNV
Germline

Chr12:88071424

Likely pathogenic

Joubert syndrome 5
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Senior-Loken syndrome 6
Leber congenital amaurosis 10

Criteria Provided
Single Submitter

1 SubmittersRCV005005403

NM_025114.4(CEP290):c.5735G>A (p.Trp1912Ter)

SNV
Germline

Chr12:88071901

Likely pathogenic

Joubert syndrome 5
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Senior-Loken syndrome 6
Leber congenital amaurosis 10

Criteria Provided
Single Submitter

1 SubmittersRCV005005404

NM_025114.4(CEP290):c.5710-2A>G

SNV
Germline

Chr12:88071928

Likely pathogenic

Joubert syndrome 5
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Senior-Loken syndrome 6
Leber congenital amaurosis 10

Criteria Provided
Single Submitter

1 SubmittersRCV005005405

NM_025114.4(CEP290):c.5659C>T (p.Gln1887Ter)

SNV
Germline

Chr12:88077272

Pathogenic/Likely pathogenic

Joubert syndrome 5
Senior-Loken syndrome 6
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005011643 RCV005218404

NM_025114.4(CEP290):c.5125C>T (p.Gln1709Ter)

SNV
Germline

Chr12:88080283

Likely pathogenic

Joubert syndrome 5
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Senior-Loken syndrome 6
Leber congenital amaurosis 10

Criteria Provided
Single Submitter

1 SubmittersRCV005011646

NM_025114.4(CEP290):c.4957A>T (p.Arg1653Ter)

SNV
Germline

Chr12:88083086

Likely pathogenic

Joubert syndrome 5
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Senior-Loken syndrome 6
Leber congenital amaurosis 10

Criteria Provided
Single Submitter

1 SubmittersRCV005011651

NM_025114.4(CEP290):c.3589A>T (p.Lys1197Ter)

SNV
Germline

Chr12:88089472

Likely pathogenic

Joubert syndrome 5
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Senior-Loken syndrome 6
Leber congenital amaurosis 10

Criteria Provided
Single Submitter

1 SubmittersRCV005005424

NM_025114.4(CEP290):c.3200T>A (p.Leu1067Ter)

SNV
Germline

Chr12:88093879

Likely pathogenic

Joubert syndrome 5
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Senior-Loken syndrome 6
Leber congenital amaurosis 10

Criteria Provided
Single Submitter

1 SubmittersRCV005011670

NM_025114.4(CEP290):c.2719G>T (p.Glu907Ter)

SNV
Germline

Chr12:88106773

Likely pathogenic

Joubert syndrome 5
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Senior-Loken syndrome 6
Leber congenital amaurosis 10

Criteria Provided
Single Submitter

1 SubmittersRCV005011676

NM_025114.4(CEP290):c.2267C>A (p.Ser756Ter)

SNV
Germline

Chr12:88111302

Likely pathogenic

Joubert syndrome 5
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Senior-Loken syndrome 6
Leber congenital amaurosis 10

Criteria Provided
Single Submitter

1 SubmittersRCV005011682

NM_025114.4(CEP290):c.1711G>T (p.Gly571Ter)

SNV
Germline

Chr12:88118483

Likely pathogenic

Joubert syndrome 5
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Senior-Loken syndrome 6
Leber congenital amaurosis 10

Criteria Provided
Single Submitter

1 SubmittersRCV005011688

NM_025114.4(CEP290):c.1624-1G>C

SNV
Germline

Chr12:88118571

Likely pathogenic

Joubert syndrome 5
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Senior-Loken syndrome 6
Leber congenital amaurosis 10

Criteria Provided
Single Submitter

1 SubmittersRCV005005441

NM_025114.4(CEP290):c.566C>G (p.Ser189Ter)

SNV
Germline

Chr12:88130371

Pathogenic

Joubert syndrome 5
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Senior-Loken syndrome 6
Leber congenital amaurosis 10

Criteria Provided
Single Submitter

1 SubmittersRCV005005453

NM_201253.3(CRB1):c.2816G>A (p.Cys939Tyr)

SNV
Germline

Chr1:197429588

Conflicting classifications of pathogenicity

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005007011 RCV005223164

NM_020366.4(RPGRIP1):c.326G>A (p.Trp109Ter)

SNV
Germline

Chr14:21301073

Likely pathogenic

Leber congenital amaurosis 6
Cone-rod dystrophy 13

Criteria Provided
Single Submitter

1 SubmittersRCV005007128

NM_020366.4(RPGRIP1):c.358C>T (p.Gln120Ter)

SNV
Germline

Chr14:21301105

Pathogenic

Leber congenital amaurosis 6
Cone-rod dystrophy 13

Criteria Provided
Single Submitter

1 SubmittersRCV005007129

NM_020366.4(RPGRIP1):c.1468-128T>G

SNV
Germline

Chr14:21321131

Pathogenic

Leber congenital amaurosis 6
Cone-rod dystrophy 13

Criteria Provided
Single Submitter

1 SubmittersRCV005007131

NM_020366.4(RPGRIP1):c.1612-2A>G

SNV
Germline

Chr14:21321852

Likely pathogenic

Leber congenital amaurosis 6
Cone-rod dystrophy 13

Criteria Provided
Single Submitter

1 SubmittersRCV005007133

NM_201253.3(CRB1):c.4182G>A (p.Trp1394Ter)

SNV
Germline

Chr1:197477840

Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005007140

NM_152443.3(RDH12):c.16G>T (p.Gly6Ter)

SNV
Germline

Chr14:67722658

Likely pathogenic

Leber congenital amaurosis 13

Criteria Provided
Single Submitter

1 SubmittersRCV005005674

NM_000180.4(GUCY2D):c.1378+1G>T

SNV
Germline

Chr17:8006715

Likely pathogenic

Night blindness, congenital stationary, type1i
Cone-rod dystrophy 6
Choroidal dystrophy, central areolar, 1
Leber congenital amaurosis 1

Criteria Provided
Single Submitter

1 SubmittersRCV005026147

NM_000180.4(GUCY2D):c.1956+1G>A

SNV
Germline

Chr17:8012351

Pathogenic

Leber congenital amaurosis 1
Choroidal dystrophy, central areolar, 1
Cone-rod dystrophy 6
Night blindness, congenital stationary, type1i
GUCY2D-related recessive retinopathy

Reviewed By Expert Panel

2 SubmittersRCV005022805 RCV005054007

NM_201253.3(CRB1):c.1172-1G>A

SNV
Germline

Chr1:197420999

Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005006932

NM_201253.3(CRB1):c.2677-2A>G

SNV
Germline

Chr1:197429447

Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005006999

NM_001122769.3(LCA5):c.1000C>T (p.Gln334Ter)

SNV
Germline

Chr6:79491686

Likely pathogenic

Leber congenital amaurosis 5

Criteria Provided
Single Submitter

1 SubmittersRCV005045857

NM_001122769.3(LCA5):c.964C>T (p.Gln322Ter)

SNV
Germline

Chr6:79491722

Likely pathogenic

Leber congenital amaurosis 5

Criteria Provided
Single Submitter

1 SubmittersRCV005033505

NM_001122769.3(LCA5):c.1A>T (p.Met1Leu)

SNV
Germline

Chr6:79518894

Likely pathogenic

Leber congenital amaurosis 5

Criteria Provided
Single Submitter

1 SubmittersRCV005033508

NM_003322.6(TULP1):c.1445G>T (p.Arg482Leu)

SNV
Germline

Chr6:35500031

Likely pathogenic

Leber congenital amaurosis 15
Retinitis pigmentosa 14

Criteria Provided
Single Submitter

1 SubmittersRCV005039725

NM_003322.6(TULP1):c.963T>G (p.Tyr321Ter)

SNV
Germline

Chr6:35506039

Likely pathogenic

Leber congenital amaurosis 15
Retinitis pigmentosa 14

Criteria Provided
Single Submitter

1 SubmittersRCV005039726

NM_003322.6(TULP1):c.822+1G>A

SNV
Germline

Chr6:35509208

Likely pathogenic

Leber congenital amaurosis 15
Retinitis pigmentosa 14

Criteria Provided
Single Submitter

1 SubmittersRCV005039727

NM_000329.3(RPE65):c.442G>A (p.Glu148Lys)

SNV
Germline

Chr1:68444584

Likely pathogenic

Leber congenital amaurosis

Criteria Provided
Single Submitter

1 SubmittersRCV005087644

NM_000329.3(RPE65):c.179T>C (p.Leu60Pro)

SNV
Germline

Chr1:68446776

Pathogenic

Leber congenital amaurosis

Criteria Provided
Single Submitter

1 SubmittersRCV005088420

NM_152443.3(RDH12):c.352C>T (p.Gln118Ter)

SNV
Germline

Chr14:67726059

Pathogenic

Leber congenital amaurosis 13

Criteria Provided
Single Submitter

1 SubmittersRCV005127800

NM_000554.6(CRX):c.257G>A (p.Trp86Ter)

SNV
Germline

Chr19:47839324

Pathogenic

Leber congenital amaurosis 7
Cone-rod dystrophy 2

Criteria Provided
Single Submitter

1 SubmittersRCV005213813

NM_020366.4(RPGRIP1):c.2215+2T>C

SNV
Germline

Chr14:21325072

Likely pathogenic

Leber congenital amaurosis 6
Cone-rod dystrophy 13

Criteria Provided
Single Submitter

1 SubmittersRCV005211602

NM_000329.3(RPE65):c.954T>G (p.Tyr318Ter)

SNV
Germline

Chr1:68438986

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

1 SubmittersRCV005223665

NM_201253.3(CRB1):c.2083C>T (p.Gln695Ter)

SNV
Germline

Chr1:197421911

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

1 SubmittersRCV005219100

NM_020366.4(RPGRIP1):c.1060C>T (p.Gln354Ter)

SNV
Germline

Chr14:21311953

Pathogenic

Leber congenital amaurosis 6
Cone-rod dystrophy 13

Criteria Provided
Single Submitter

1 SubmittersRCV005217311

NM_000329.3(RPE65):c.1129-1G>A

SNV
Germline

Chr1:68431586

Likely pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

1 SubmittersRCV005215380

NM_000554.6(CRX):c.252+2T>G

SNV
Germline

Chr19:47836396

Pathogenic

Cone-rod dystrophy 2
Leber congenital amaurosis 7

Criteria Provided
Single Submitter

1 SubmittersRCV005212975

NM_201253.3(CRB1):c.586A>T (p.Lys196Ter)

SNV
Germline

Chr1:197328937

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

1 SubmittersRCV005213142

NM_000329.3(RPE65):c.1579C>T (p.His527Tyr)

SNV
Germline

Chr1:68429799

Pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
RPE65-related recessive retinopathy

Reviewed By Expert Panel

2 SubmittersRCV005213186 RCV005426447

NM_000180.4(GUCY2D):c.2272C>T (p.Gln758Ter)

SNV
Germline

Chr17:8013888

Pathogenic

Cone-rod dystrophy 6
Leber congenital amaurosis 1

Criteria Provided
Single Submitter

1 SubmittersRCV005212820

NM_000180.4(GUCY2D):c.66G>A (p.Trp22Ter)

SNV
Germline

Chr17:8003113

Pathogenic

Cone-rod dystrophy 6
Leber congenital amaurosis 1

Criteria Provided
Single Submitter

1 SubmittersRCV005219988

NM_201253.3(CRB1):c.1236T>A (p.Cys412Ter)

SNV
Germline

Chr1:197421064

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

1 SubmittersRCV005226114

NM_201253.3(CRB1):c.4130G>A (p.Gly1377Glu)

SNV
Germline

Chr1:197477788

Conflicting classifications of pathogenicity

Leber congenital amaurosis 8
Retinitis pigmentosa 12
not specified

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005222573 RCV005407423

NM_201253.3(CRB1):c.3822C>A (p.Cys1274Ter)

SNV
Germline

Chr1:197438619

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

1 SubmittersRCV005222281

NM_020366.4(RPGRIP1):c.817A>T (p.Lys273Ter)

SNV
Germline

Chr14:21307747

Likely pathogenic

Leber congenital amaurosis 6

Criteria Provided
Single Submitter

1 SubmittersRCV005235874

NM_201253.3(CRB1):c.3305T>G (p.Ile1102Ser)

SNV
Germline

Chr1:197435168

Likely pathogenic

Leber congenital amaurosis 8

Criteria Provided
Single Submitter

1 SubmittersRCV005235879

NM_022787.4(NMNAT1):c.140T>A (p.Ile47Asn)

SNV
Germline

Chr1:9975616

Pathogenic

Leber congenital amaurosis 9

Criteria Provided
Single Submitter

1 SubmittersRCV005251507

NM_000180.4(GUCY2D):c.19C>T (p.Arg7Ter)

SNV
Germline

Chr17:8003066

Pathogenic

Leber congenital amaurosis 1

Criteria Provided
Single Submitter

1 SubmittersRCV005252389

NM_000180.4(GUCY2D):c.582G>A (p.Trp194Ter)

SNV
Germline

Chr17:8003629

Pathogenic

Leber congenital amaurosis 1

Criteria Provided
Single Submitter

1 SubmittersRCV005252408

NM_152443.3(RDH12):c.659-2A>G

SNV
Germline

Chr14:67729189

Pathogenic

Leber congenital amaurosis 13

Criteria Provided
Single Submitter

1 SubmittersRCV005253584

NM_000329.3(RPE65):c.864G>A (p.Trp288Ter)

SNV
Germline

Chr1:68439076

Likely pathogenic

Retinitis pigmentosa 20
Retinitis pigmentosa 87 with choroidal involvement
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

1 SubmittersRCV005393730

NM_201253.3(CRB1):c.3750-2A>G

SNV
Germline

Chr1:197438545

Likely pathogenic

Leber congenital amaurosis

No Assertion Criteria Provided

1 SubmittersRCV005617305

NM_201253.3(CRB1):c.2199T>A (p.Tyr733Ter)

SNV
Germline

Chr1:197427524

Likely pathogenic

Leber congenital amaurosis

No Assertion Criteria Provided

1 SubmittersRCV005617333

NM_025114.4(CEP290):c.2848C>T (p.Gln950Ter)

SNV
Germline

Chr12:88102981

Likely pathogenic

Leber congenital amaurosis

No Assertion Criteria Provided

1 SubmittersRCV005612414

NM_025114.4(CEP290):c.2213T>A (p.Leu738Ter)

SNV
Germline

Chr12:88111698

Likely pathogenic

Leber congenital amaurosis

No Assertion Criteria Provided

1 SubmittersRCV005615020