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 Leber congenital amaurosis Condition: not provided Inborn genetic diseases Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA204615	rs_121918165	15 SubmittersRCV000001019 RCV001003073 RCV000812173 RCV000190663 RCV001073263
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)	SNV Germline	Chr12:88077263	Pathogenic/Likely pathogenic	Joubert syndrome 5 Meckel-Gruber syndrome Condition: not provided Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome Bardet-Biedl syndrome 14 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Retinal dystrophy Retinitis pigmentosa Meckel syndrome, type 6 Meckel syndrome, type 4 Joubert syndrome 5 Senior-Loken syndrome 6 Leber congenital amaurosis Bardet-Biedl syndrome 14 Bardet-Biedl syndrome 14 Joubert syndrome 5 Meckel syndrome, type 4 Senior-Loken syndrome 6 COG7 congenital disorder of glycosylation Abnormality of the nervous system CEP290-related disorder Leber congenital amaurosis 10	Criteria Provided Multiple Submitters No Conflicts	CA150917	rs_137852832	31 SubmittersRCV000001396 RCV000114202 RCV000086298 RCV000531295 RCV000515339 RCV001073790 RCV000787813 RCV001261607 RCV001000092 RCV001002714 RCV001276487 RCV001542773 RCV001836689 RCV001815157 RCV001836688 RCV003147273 RCV004798711
NM_025114.4(CEP290):c.21G>T (p.Trp7Cys)	SNV Germline	Chr12:88141287	Pathogenic	Joubert syndrome 5 Condition: not provided Leber congenital amaurosis Nephronophthisis Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome	Criteria Provided Multiple Submitters No Conflicts	CA227962	rs_62635288	6 SubmittersRCV000001398 RCV000086283 RCV000505111 RCV001328051 RCV001851540
NM_025114.4(CEP290):c.2991+1655A>G	SNV Germline	Chr12:88101183	Pathogenic/Likely pathogenic	Leber congenital amaurosis 10 Condition: not provided Retinitis pigmentosa Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome Bardet-Biedl syndrome 14 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Retinal dystrophy Joubert syndrome 5 Joubert syndrome 1 Intellectual disability Leber congenital amaurosis CEP290-related disorder Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA227965	rs_281865192	25 SubmittersRCV000001400 RCV000086286 RCV000678535 RCV000558460 RCV000763315 RCV001075828 RCV001196010 RCV000988884 RCV001255341 RCV001831503 RCV001731267 RCV003460403
NM_025114.4(CEP290):c.2249T>G (p.Leu750Ter)	SNV Germline	Chr12:88111320	Pathogenic	Leber congenital amaurosis 10 Familial aplasia of the vermis Nephronophthisis Meckel-Gruber 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 Blindness Nystagmus Molar tooth sign on MRI Central hypotonia Condition: not provided not specified Bardet-Biedl syndrome 14 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Retinal dystrophy Senior-Loken syndrome 6 Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome Leber congenital amaurosis CEP290-related disorder CEP290-related ciliopathy Bardet-Biedl syndrome 14 Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA251751	rs_137852834	21 SubmittersRCV000001402 RCV000001403 RCV000415219 RCV000415120 RCV000484693 RCV000508230 RCV000763312 RCV001075829 RCV001002715 RCV001046610 RCV001831504 RCV003155008 RCV003492281 RCV003466778 RCV004975257
NM_025114.4(CEP290):c.613C>T (p.Arg205Ter)	SNV Germline	Chr12:88130324	Pathogenic	Meckel syndrome, type 4 Encephalocele Polycystic kidney disease Severe hydrocephalus Leber congenital amaurosis Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome Leber congenital amaurosis 10 Condition: not provided Bardet-Biedl syndrome 14 Bardet-Biedl syndrome 14 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Retinal dystrophy CEP290-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA114937	rs_137852835	10 SubmittersRCV000001407 RCV001257362 RCV001274134 RCV001042869 RCV001376372 RCV001781163 RCV003466779 RCV002496228 RCV003887847 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	10 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 Retinal dystrophy Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA339895	rs_75895925	9 SubmittersRCV000001462 RCV001291573 RCV002260581 RCV003887848 RCV003485517
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	13 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 Leber congenital amaurosis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA252081	rs_104894471	17 SubmittersRCV000002131 RCV001075533 RCV001254729 RCV001567801
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 Retinitis pigmentosa Retinal dystrophy Condition: not provided Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA252088	rs_28940315	19 SubmittersRCV000002136 RCV000993758 RCV001075855 RCV000594844 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	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	11 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 Retinal dystrophy Leber congenital amaurosis 13 Condition: not provided Retinitis pigmentosa Leber congenital amaurosis RDH12-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA115315	rs_202126574	10 SubmittersRCV000002142 RCV001073666 RCV001223788 RCV001558134 RCV000132691 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	28 SubmittersRCV000005906 RCV000086235 RCV000365317 RCV000505017 RCV001074840 RCV002496274 RCV004786238
NM_014336.5(AIPL1):c.715T>C (p.Cys239Arg)	SNV Germline	Chr17:6426684	Pathogenic	Leber congenital amaurosis 4 Condition: not provided Leber congenital amaurosis	Criteria Provided Single Submitter	CA227892	rs_62637012	5 SubmittersRCV000005908 RCV000086231 RCV004585988
NM_201253.3(CRB1):c.3122T>C (p.Met1041Thr)	SNV Germline	Chr1:197434985	Pathogenic	Retinitis pigmentosa 12 Condition: not provided Leber congenital amaurosis 8 Retinitis pigmentosa 12 Leber congenital amaurosis 8 Retinal dystrophy CRB1-related disorder Pigmented paravenous retinochoroidal atrophy	Criteria Provided Multiple Submitters No Conflicts	CA228031	rs_62635656	10 SubmittersRCV000006084 RCV000086336 RCV001045972 RCV001250615 RCV001075294 RCV004528086 RCV003450614
NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys)	SNV Germline	Chr1:197427615	Pathogenic/Likely pathogenic	Retinitis pigmentosa 12 Condition: not provided Macular dystrophy Retinitis pigmentosa Retinal dystrophy Leber congenital amaurosis 8 Retinitis pigmentosa 12 Leber congenital amaurosis 8 CRB1-related maculopathy Leber congenital amaurosis 8 Retinitis pigmentosa 12 Pigmented paravenous retinochoroidal atrophy Retinitis pigmentosa-deafness syndrome Pigmented paravenous retinochoroidal atrophy CRB1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA228006	rs_62635654	24 SubmittersRCV000006086 RCV000086317 RCV000656137 RCV000787577 RCV001074882 RCV001052374 RCV001250604 RCV001352991 RCV002496279 RCV003447471 RCV003450615 RCV004540990
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 Autosomal recessive retinitis pigmentosa Leber congenital amaurosis Leber congenital amaurosis 8 Retinitis pigmentosa 12 Pigmented paravenous retinochoroidal atrophy Retinal dystrophy Pigmented paravenous retinochoroidal atrophy	Criteria Provided Multiple Submitters No Conflicts	CA228003	rs_28939720	24 SubmittersRCV000006087 RCV000086315 RCV000809110 RCV000787576 RCV001250601 RCV001257864 RCV001826422 RCV002496280 RCV001074789 RCV001196030
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 Retinal dystrophy Leber congenital amaurosis Leber congenital amaurosis 8 Retinitis pigmentosa 12 Pigmented paravenous retinochoroidal atrophy Pigmented paravenous retinochoroidal atrophy CRB1-related disorder Condition: not provided Retinitis pigmentosa Leber congenital amaurosis 8 Retinitis pigmentosa 12 Leber congenital amaurosis 8	Criteria Provided Multiple Submitters No Conflicts	CA203531	rs_137853137	16 SubmittersRCV000006090 RCV000787826 RCV001275651 RCV002504753 RCV003450616 RCV004739293 RCV000578757 RCV000787578 RCV000691427 RCV001250606
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 Leber congenital amaurosis 8 Retinitis pigmentosa 12 Early-onset retinal dystrophy Leber congenital amaurosis Retinal dystrophy Pigmented paravenous retinochoroidal atrophy	Criteria Provided Multiple Submitters No Conflicts	CA117711	rs_62636275	14 SubmittersRCV000006093 RCV000006094 RCV000086341 RCV000648818 RCV000786009 RCV001002998 RCV001073404 RCV003450617
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_000554.6(CRX):c.239A>C (p.Glu80Ala)	SNV Germline	Chr19:47836381	Pathogenic	Cone-rod dystrophy 2 Condition: not provided Cone-rod dystrophy 2 Leber congenital amaurosis 7	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 Retinal dystrophy Leber congenital amaurosis 7 Cone-rod dystrophy 2 Cone-rod dystrophy Retinitis pigmentosa	Criteria Provided Multiple Submitters No Conflicts	CA118790	rs_104894672	12 SubmittersRCV000007843 RCV000085989 RCV001073396 RCV001386169 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	Criteria Provided Multiple Submitters No Conflicts	CA118791	rs_61748436	8 SubmittersRCV000007846 RCV000085990 RCV001059718 RCV001075469 RCV004755718
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 Heimler syndrome 1 Peroxisome biogenesis disorder 1A (Zellweger) Peroxisome biogenesis disorder 1B Peroxisomal disorder Peroxisome biogenesis disorder 1A (Zellweger) Peroxisome biogenesis disorder 1B 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	40 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 Cone-rod dystrophy 3 Retinitis pigmentosa 19 Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy Stargardt disease Retinitis pigmentosa 19 ABCA4-related retinopathy Leber congenital amaurosis 14 ABCA4-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA119140	rs_61751383	20 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 Congenital anomaly of kidney and urinary tract Klippel-Feil syndrome 1, autosomal dominant Congenital anomaly of kidney and urinary tract Microphthalmia, isolated, with coloboma 6 Leber congenital amaurosis 17 Isolated microphthalmia 4 Klippel-Feil syndrome 1, autosomal dominant GDF6-related disorder Retinal dystrophy	Criteria Provided Conflicting Classifications	CA119555	rs_121909352	11 SubmittersRCV000008876 RCV000008877 RCV000054424 RCV000353571 RCV000428033 RCV000767010 RCV001255226 RCV001255227 RCV001522988 RCV003934812 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 Leber congenital amaurosis 17 Microphthalmia, isolated, with coloboma 6 Isolated microphthalmia 4 Klippel-Feil syndrome 1, autosomal dominant GDF6-related disorder	Criteria Provided Conflicting Classifications	CA119556	rs_63751220	4 SubmittersRCV000008878 RCV000255695 RCV001399723 RCV003952350
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 Autosomal dominant Parkinson disease 8 Klippel-Feil syndrome 1, autosomal dominant Leber congenital amaurosis 17 Klippel-Feil syndrome 1, autosomal dominant Isolated microphthalmia 4 Microphthalmia, isolated, with coloboma 6 Leber congenital amaurosis 17	Criteria Provided Conflicting Classifications	CA119557	rs_121909353	5 SubmittersRCV000008879 RCV000287766 RCV000984889 RCV001429590 RCV003152588
NM_000180.4(GUCY2D):c.1694T>C (p.Phe565Ser)	SNV Germline	Chr17:8009531	Pathogenic	Leber congenital amaurosis 1 Condition: not provided	No Assertion Criteria Provided	CA226054	rs_61749755	3 SubmittersRCV000009944 RCV000084839
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 Leber congenital amaurosis 1 Cone-rod dystrophy 6 Retinal dystrophy Choroidal dystrophy, central areolar, 1 Leber congenital amaurosis 1	Criteria Provided Multiple Submitters No Conflicts	CA226085	rs_61750172	16 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) Cone dystrophy Cone-rod dystrophy 6 Leber congenital amaurosis 1 Retinitis pigmentosa Visual impairment Macular dystrophy Cone-rod dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA226086	rs_61750173	20 SubmittersRCV000009951 RCV000084863 RCV000504851 RCV000787614 RCV001003043 RCV001228516 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 Retinitis pigmentosa 20 Leber congenital amaurosis 2 Leber congenital amaurosis RPE65-related recessive retinopathy Retinal dystrophy	Reviewed By Expert Panel	CA226577	rs_61752895	9 SubmittersRCV000013993 RCV000085219 RCV001376448 RCV001236263 RCV001831567 RCV003460467 RCV004794340
NM_000329.3(RPE65):c.271C>T (p.Arg91Trp)	SNV Germline	Chr1:68444858	Pathogenic	Retinitis pigmentosa 20 Condition: not provided Retinitis pigmentosa 20 Leber congenital amaurosis 2 Retinitis pigmentosa Retinitis pigmentosa 20 Leber congenital amaurosis RPE65-related disorder Leber congenital amaurosis 2 Autosomal recessive retinitis pigmentosa Abnormality of the eye Retinal dystrophy Leber congenital amaurosis RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA226531	rs_61752871	20 SubmittersRCV000013994 RCV000085184 RCV000527143 RCV000787698 RCV001095690 RCV001250682 RCV001257818 RCV001813981 RCV001073556 RCV001275337 RCV004595852
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 RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA226509	rs_62637004	6 SubmittersRCV000013995 RCV000085169 RCV001304649 RCV003114190 RCV004801914
NM_000329.3(RPE65):c.1087C>A (p.Pro363Thr)	SNV Germline	Chr1:68438228	Pathogenic	Retinitis pigmentosa 20 Leber congenital amaurosis 2 Retinitis pigmentosa 20 Leber congenital amaurosis 2 Leber congenital amaurosis RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA256730	rs_121917744	8 SubmittersRCV000013996 RCV001250693 RCV000815732 RCV001826460 RCV003460468
NM_000329.3(RPE65):c.1022T>C (p.Leu341Ser)	SNV Germline	Chr1:68438293	Pathogenic	Retinitis pigmentosa 20 Condition: not provided Leber congenital amaurosis 2 Retinitis pigmentosa 20 Leber congenital amaurosis 2 Leber congenital amaurosis Retinitis pigmentosa 20 Retinitis pigmentosa 87 with choroidal involvement Leber congenital amaurosis 2 Retinal dystrophy RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA226472	rs_61752909	15 SubmittersRCV000013997 RCV000085141 RCV000986328 RCV001047062 RCV001831568 RCV002496352 RCV004814898 RCV003764564
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 Retinitis pigmentosa 20 Leber congenital amaurosis 2 Leber congenital amaurosis Retinal dystrophy RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA226519	rs_121917745	11 SubmittersRCV000013999 RCV000014000 RCV000085176 RCV000132583 RCV000816506 RCV001826461 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	Cone-rod dystrophy 6 Leber congenital amaurosis 1 Condition: not provided	Criteria Provided Single Submitter	CA226083	rs_61750172	2 SubmittersRCV001854486 RCV000084861
NM_000329.3(RPE65):c.1102T>C (p.Tyr368His)	SNV Germline	Chr1:68438213	Pathogenic	Retinitis pigmentosa 20 Leber congenital amaurosis 2 Condition: not provided RPE65-related disorder Retinitis pigmentosa Retinitis pigmentosa 20 Leber congenital amaurosis 2 Leber congenital amaurosis RPE65-related recessive retinopathy Retinal dystrophy	Reviewed By Expert Panel	CA226484	rs_62653011	15 SubmittersRCV000022749 RCV000022750 RCV000085150 RCV000348257 RCV000787920 RCV001054423 RCV001275328 RCV003764626 RCV004814916
NM_000329.3(RPE65):c.907A>T (p.Lys303Ter)	SNV Germline	Chr1:68439033	Pathogenic	Leber congenital amaurosis 2 Condition: not provided Retinitis pigmentosa 87 with choroidal involvement Retinitis pigmentosa 20 Leber congenital amaurosis 2 Retinitis pigmentosa 20 Leber congenital amaurosis 2 RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA226589	rs_61752904	7 SubmittersRCV000022753 RCV000085231 RCV002490403 RCV002513174 RCV003764627
NM_000329.3(RPE65):c.1292A>G (p.Tyr431Cys)	SNV Germline	Chr1:68431328	Likely pathogenic	Leber congenital amaurosis 2 Condition: not provided Retinitis pigmentosa 20 Leber congenital amaurosis 2 RPE65-related recessive retinopathy Leber congenital amaurosis RPE65-related disorder	Reviewed By Expert Panel	CA226500	rs_62636300	8 SubmittersRCV000022754 RCV000085161 RCV001054426 RCV003764628 RCV003317042 RCV004732553
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	Brachydactyly Syndactyly Polydactyly, postaxial, type A1 Retinal degeneration Leber congenital amaurosis 15 Retinal dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA259774	rs_387906836	5 SubmittersRCV000852373 RCV000023188 RCV004814918 RCV003556074
NM_003322.6(TULP1):c.1102G>T (p.Gly368Trp)	SNV Germline	Chr6:35505751	Pathogenic/Likely pathogenic	Condition: not provided Leber congenital amaurosis 15 Retinal dystrophy Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA259775	rs_387906837	5 SubmittersRCV001857359 RCV000023189 RCV004814919 RCV004586021
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 Nephronophthisis Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA129461	rs_387907009	6 SubmittersRCV000023758 RCV000462160 RCV000504719
NM_018418.5(SPATA7):c.253C>T (p.Arg85Ter)	SNV Germline	Chr14:88416725	Pathogenic/Likely pathogenic	Leber congenital amaurosis 3 Retinal dystrophy Retinitis pigmentosa 94, variable age at onset SPATA7-related disorder Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA259907	rs_140287375	10 SubmittersRCV000023791 RCV001075501 RCV002260600 RCV000778417 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	Leber congenital amaurosis 9 Condition: not provided Leber congenital amaurosis 7 conditions Retinal dystrophy Inborn genetic diseases NMNAT1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA342906	rs_150726175	16 SubmittersRCV000030765 RCV000255806 RCV000504859 RCV001003567 RCV001075816 RCV004639123 RCV004757953
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 Retinitis pigmentosa 12 Leber congenital amaurosis 8 Retinitis pigmentosa Retinal dystrophy Retinitis pigmentosa 12 Leber congenital amaurosis 8 Pigmented paravenous retinochoroidal atrophy CRB1-related disorder Pigmented paravenous retinochoroidal atrophy Leber congenital amaurosis Cone dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA228022	rs_62645748	29 SubmittersRCV000032814 RCV000032815 RCV000086331 RCV000554663 RCV000787579 RCV000505155 RCV000762874 RCV003313928 RCV001097540 RCV001275657 RCV003324500
NM_017777.4(MKS1):c.958G>A (p.Val320Ile)	SNV Germline	Chr17:58210980	Pathogenic/Likely pathogenic	Meckel syndrome, type 1 Meckel syndrome, type 1 Leber congenital amaurosis 6 Condition: not provided Meckel-Gruber syndrome Familial aplasia of the vermis Bardet-Biedl syndrome 13	Criteria Provided Multiple Submitters No Conflicts	CA344764	rs_386834053	6 SubmittersRCV000050040 RCV000735871 RCV000735097 RCV001853066 RCV003474638
NM_025114.4(CEP290):c.1984C>T (p.Gln662Ter)	SNV Germline	Chr12:88114488	Pathogenic	Meckel syndrome, type 4 Joubert syndrome 5 Meckel-Gruber syndrome Nephronophthisis Familial aplasia of the vermis Retinitis pigmentosa Leber congenital amaurosis Leber congenital amaurosis 10 Condition: not provided Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 Bardet-Biedl syndrome 14 Bardet-Biedl syndrome 14 CEP290-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA144389	rs_386834152	11 SubmittersRCV000050146 RCV000201755 RCV000685655 RCV000787812 RCV000787559 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 Meckel-Gruber syndrome Nephronophthisis Familial aplasia of the vermis Leber congenital amaurosis Bardet-Biedl syndrome 14 Joubert syndrome 5 Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA144391	rs_386834153	9 SubmittersRCV000050147 RCV001091341 RCV001053674 RCV001274137 RCV003466923 RCV004760362 RCV004814991
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 Klippel-Feil syndrome 1, autosomal dominant Condition: not provided Klippel-Feil syndrome 1, autosomal dominant Isolated microphthalmia 4 Leber congenital amaurosis 17 Microphthalmia, isolated, with coloboma 6 GDF6-related disorder	Criteria Provided Conflicting Classifications	CA210821	rs_397514725	5 SubmittersRCV000054426 RCV001337031 RCV001753472 RCV001853075 RCV004757958
NM_014336.5(AIPL1):c.589G>C (p.Ala197Pro)	SNV Germline	Chr17:6426934	Pathogenic	Leber congenital amaurosis 4 Condition: not provided	No Assertion Criteria Provided	CA227886	rs_62637010	3 SubmittersRCV000055939 RCV000086228
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	Criteria Provided Multiple Submitters No Conflicts	CA227897	rs_142326926	5 SubmittersRCV000055941 RCV000086234 RCV004732645
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 Leber congenital amaurosis 8 Retinitis pigmentosa 12 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	Retinitis pigmentosa Leber congenital amaurosis 4 AIPL1-related disorder Retinal dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA223111	rs_144822294	5 SubmittersRCV001125500 RCV001125501 RCV004732656 RCV004815007 RCV000081612
NM_014336.5(AIPL1):c.267C>T (p.Cys89=)	SNV Germline	Chr17:6433928	Conflicting classifications of pathogenicity	not specified Retinitis Pigmentosa, Dominant Retinitis Pigmentosa, Recessive Leber congenital amaurosis 4 Retinal dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA223113	rs_62653020	9 SubmittersRCV000259077 RCV000345097 RCV000306547 RCV001080955 RCV004815008 RCV000081613
NM_014336.5(AIPL1):c.516T>C (p.His172=)	SNV Germline	Chr17:6427007	Conflicting classifications of pathogenicity	Retinitis Pigmentosa, Recessive Retinitis pigmentosa not specified Leber congenital amaurosis 4 AIPL1-related disorder Retinal dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA223115	rs_62637017	10 SubmittersRCV000311702 RCV000371077 RCV001001388 RCV001086330 RCV004542792 RCV004815009 RCV000081614
NM_018418.5(SPATA7):c.729C>T (p.Arg243=)	SNV Germline	Chr14:88426588	Conflicting classifications of pathogenicity	Retinitis pigmentosa Leber congenital amaurosis 3 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA223536	rs_151338404	6 SubmittersRCV000327877 RCV000952079 RCV001699118 RCV000081956
NM_020366.4(RPGRIP1):c.2555G>A (p.Arg852Gln)	SNV Germline	Chr14:21326018	Conflicting classifications of pathogenicity	not specified Leber congenital amaurosis 6 Cone-rod dystrophy 13 Cone-rod dystrophy 13 Leber congenital amaurosis 6 Retinal dystrophy Optic atrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA223562	rs_181758389	6 SubmittersRCV001002311 RCV001111274 RCV001111273 RCV001513784 RCV004815013 RCV004815014 RCV000082000
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 Leber congenital amaurosis 6 Cone-rod dystrophy 13	Criteria Provided Multiple Submitters No Conflicts	CA223564	rs_398124354	4 SubmittersRCV000082001 RCV000710048 RCV001800386 RCV001857395 RCV001800387
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	Leber congenital amaurosis 10 Joubert syndrome 5 Meckel syndrome, type 4 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Condition: not provided Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Leber congenital amaurosis CEP290-related disorder not specified	Criteria Provided Conflicting Classifications	CA149314	rs_183655276	11 SubmittersRCV000307654 RCV000351974 RCV000402012 RCV000366483 RCV000408211 RCV000442189 RCV001082252 RCV001273070 RCV004528298 RCV000082249
NM_000180.4(GUCY2D):c.1052A>G (p.Tyr351Cys)	SNV Germline	Chr17:8006388	Pathogenic/Likely pathogenic	Condition: not provided Leber congenital amaurosis 1 Leber congenital amaurosis 1 Cone-rod dystrophy 6 Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA226036	rs_61749676	4 SubmittersRCV000084827 RCV001250829 RCV001377421 RCV003398694
NM_000180.4(GUCY2D):c.1236C>T (p.Asp412=)	SNV Germline	Chr17:8006572	Conflicting classifications of pathogenicity	Cone-rod dystrophy 6 Leber congenital amaurosis 1 not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA226041	rs_61749678	6 SubmittersRCV001087384 RCV001705813 RCV000084830
NM_000180.4(GUCY2D):c.1343C>A (p.Ser448Ter)	SNV Germline	Chr17:8006679	Pathogenic	Condition: not provided Cone-rod dystrophy 6 Leber congenital amaurosis 1 Cone-rod dystrophy 6 Leber congenital amaurosis 1 Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA226043	rs_61749679	7 SubmittersRCV000084831 RCV000989737 RCV001037164 RCV001250830 RCV004815022
NM_000180.4(GUCY2D):c.1537C>T (p.Leu513Phe)	SNV Germline	Chr17:8007499	Conflicting classifications of pathogenicity	Condition: not provided not specified Leber congenital amaurosis 1 Cone-rod dystrophy 6	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	Cone-rod dystrophy 6 Leber congenital amaurosis 1 Leber congenital amaurosis 1 Retinal dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA226062	rs_61750161	4 SubmittersRCV001047937 RCV001250870 RCV004815024 RCV000084847
NM_000180.4(GUCY2D):c.2302C>T (p.Arg768Trp)	SNV Germline	Chr17:8013918	Pathogenic	Cone-rod dystrophy 6 Leber congenital amaurosis 1 Leber congenital amaurosis 1 Retinal dystrophy Leber congenital amaurosis Night blindness, congenital stationary, type1i Choroidal dystrophy, central areolar, 1 Cone-rod dystrophy 6 Night blindness, congenital stationary, type1i Leber congenital amaurosis 1 GUCY2D-related disorder Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA226075	rs_61750168	15 SubmittersRCV000543628 RCV000850093 RCV001075745 RCV000787613 RCV000850094 RCV002477250 RCV004748575 RCV000084856
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	Criteria Provided Conflicting Classifications	CA226103	rs_61750182	3 SubmittersRCV000084873 RCV001075835 RCV002514512
NM_000180.4(GUCY2D):c.2983C>T (p.Arg995Trp)	SNV Germline	Chr17:8015781	Likely pathogenic	Condition: not provided Leber congenital amaurosis 1	Criteria Provided Multiple Submitters No Conflicts	CA226112	rs_61750187	4 SubmittersRCV000084879 RCV001250866
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	Pathogenic/Likely pathogenic	Condition: not provided Cone dystrophy Leber congenital amaurosis 1 Cone-rod dystrophy 6 Leber congenital amaurosis 1 Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA226122	rs_61749668	9 SubmittersRCV000084885 RCV000505073 RCV001053255 RCV001250822 RCV004689453
NM_000180.4(GUCY2D):c.3118C>T (p.Arg1040Ter)	SNV Germline	Chr17:8016001	Pathogenic	Condition: not provided Leber congenital amaurosis 1 Leber congenital amaurosis 1 Cone-rod dystrophy 6	Criteria Provided Single Submitter	CA226130	rs_61750194	3 SubmittersRCV000084889 RCV001250858 RCV002514513
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	No Assertion Criteria Provided	CA226144	rs_281865409	2 SubmittersRCV000084898 RCV001250813
NM_000180.4(GUCY2D):c.3G>C (p.Met1Ile)	SNV Germline	Chr17:8003050	Pathogenic	Condition: not provided Leber congenital amaurosis 1 Leber congenital amaurosis 1 Cone-rod dystrophy 6	Criteria Provided Single Submitter	CA226146	rs_281865409	3 SubmittersRCV000084899 RCV001250812 RCV001388964
NM_000180.4(GUCY2D):c.935C>T (p.Thr312Met)	SNV Germline	Chr17:8004065	Conflicting classifications of pathogenicity	Condition: not provided Leber congenital amaurosis 1 Leber congenital amaurosis 1 Cone-rod dystrophy 6	Criteria Provided Conflicting Classifications	CA226155	rs_61749673	5 SubmittersRCV000084906 RCV001250818 RCV003764783
NM_000322.5(PRPH2):c.637T>C (p.Cys213Arg)	SNV Germline	Chr6:42704556	Pathogenic	Condition: not provided Leber congenital amaurosis 18 Patterned macular dystrophy 1 PRPH2-related disorder	Criteria Provided Single Submitter	CA174960	rs_61755802	4 SubmittersRCV000085002 RCV000149469 RCV000149468 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 Retinitis pigmentosa 20 Leber congenital amaurosis 2 Retinal dystrophy Retinitis pigmentosa 20 Leber congenital amaurosis Retinitis pigmentosa 20 Retinitis pigmentosa 87 with choroidal involvement Leber congenital amaurosis 2 RPE65-related recessive retinopathy RPE65-related disorder Inborn genetic diseases	Reviewed By Expert Panel	CA226483	rs_61751276	24 SubmittersRCV000022752 RCV000085149 RCV000524808 RCV000505050 RCV000678614 RCV001275342 RCV002498448 RCV003460766 RCV004732661 RCV004955275
NM_000329.3(RPE65):c.118G>A (p.Gly40Ser)	SNV Germline	Chr1:68446837	Pathogenic	Retinal dystrophy Retinitis pigmentosa 20 Leber congenital amaurosis 2 Leber congenital amaurosis 2 Leber congenital amaurosis Retinitis pigmentosa 20 Retinitis pigmentosa 87 with choroidal involvement Leber congenital amaurosis 2 RPE65-related recessive retinopathy Condition: not provided Retinitis pigmentosa	Reviewed By Expert Panel	CA226491	rs_61751281	10 SubmittersRCV001074416 RCV001047503 RCV001250675 RCV001275340 RCV002498450 RCV004527312 RCV000085155 RCV000132582
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 Retinitis pigmentosa 20 Leber congenital amaurosis 2 Leber congenital amaurosis 2 RPE65-related recessive retinopathy Leber congenital amaurosis Inborn genetic diseases	Reviewed By Expert Panel	CA226499	rs_62636299	7 SubmittersRCV000085160 RCV001074061 RCV001323215 RCV003466997 RCV003764786 RCV004767068 RCV004955276
NM_000329.3(RPE65):c.131G>A (p.Arg44Gln)	SNV Germline	Chr1:68446824	Pathogenic	Condition: not provided Retinitis pigmentosa 20 Leber congenital amaurosis 2 Autosomal recessive retinitis pigmentosa Leber congenital amaurosis 2 Leber congenital amaurosis Retinitis pigmentosa 20 RPE65-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA226506	rs_61751282	8 SubmittersRCV000085166 RCV000701390 RCV001257816 RCV001250676 RCV001275338 RCV001808321 RCV004528783
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 Retinitis pigmentosa 20 Leber congenital amaurosis 2	Criteria Provided Multiple Submitters No Conflicts	CA226513	rs_62637006	6 SubmittersRCV000085172 RCV001250694 RCV001376503 RCV002513922
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 Retinitis pigmentosa 20 Leber congenital amaurosis 2 Leber congenital amaurosis RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA226517	rs_62653015	10 SubmittersRCV000085175 RCV001250703 RCV001854497 RCV001826773 RCV003764788
NM_000329.3(RPE65):c.202C>T (p.His68Tyr)	SNV Unknown	Chr1:68446753	Likely pathogenic	Condition: not provided Leber congenital amaurosis 2	Criteria Provided Single Submitter	CA226523	rs_61752866	2 SubmittersRCV000085179 RCV003466999
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	Retinitis pigmentosa 20 Leber congenital amaurosis 2 Leber congenital amaurosis Retinitis pigmentosa Leber congenital amaurosis 2 Inborn genetic diseases RPE65-related recessive retinopathy Retinal dystrophy Condition: not provided	Reviewed By Expert Panel	CA226533	rs_61752873	10 SubmittersRCV001061074 RCV001275336 RCV001731373 RCV002247485 RCV003242980 RCV003764791 RCV004815048 RCV000085186
NM_000329.3(RPE65):c.272G>C (p.Arg91Pro)	SNV Germline	Chr1:68444857	Likely pathogenic	Condition: not provided Leber congenital amaurosis 2	No Assertion Criteria Provided	CA226534	rs_61752873	2 SubmittersRCV000085187 RCV001250683
NM_000329.3(RPE65):c.2T>C (p.Met1Thr)	SNV Germline	Chr1:68449904	Pathogenic/Likely pathogenic	Condition: not provided Retinitis pigmentosa 20 Retinitis pigmentosa 20 Leber congenital amaurosis 2 Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA226537	rs_281865285	4 SubmittersRCV000085190 RCV001376504 RCV001377675 RCV004815049
NM_000329.3(RPE65):c.304G>T (p.Glu102Ter)	SNV Germline	Chr1:68444825	Pathogenic	Condition: not provided Retinitis pigmentosa 20 Leber congenital amaurosis 2 RPE65-related disorder Leber congenital amaurosis RPE65-related recessive retinopathy Leber congenital amaurosis 2 Retinal dystrophy	Reviewed By Expert Panel	CA226540	rs_62642584	11 SubmittersRCV000085192 RCV000763389 RCV001249229 RCV001275333 RCV003764793 RCV003467000 RCV004815050
NM_000329.3(RPE65):c.311G>T (p.Gly104Val)	SNV Germline	Chr1:68444818	Likely pathogenic	Condition: not provided Leber congenital amaurosis 2	Criteria Provided Single Submitter	CA226542	rs_61752875	2 SubmittersRCV000085193 RCV001588914
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 Leber congenital amaurosis Retinitis pigmentosa 20 Retinitis pigmentosa 87 with choroidal involvement Leber congenital amaurosis 2 Inborn genetic diseases Retinal dystrophy RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA226545	rs_61752877	13 SubmittersRCV000085195 RCV000538669 RCV000986332 RCV001275332 RCV002490740 RCV003242981 RCV003888467 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 RPE65-related recessive retinopathy Leber congenital amaurosis 2	Reviewed By Expert Panel	CA226550	rs_61752880	4 SubmittersRCV000085198 RCV001854498 RCV004595854 RCV004566978
NM_000329.3(RPE65):c.444G>T (p.Glu148Asp)	SNV Germline	Chr1:68444582	Likely pathogenic	Condition: not provided Leber congenital amaurosis 2	No Assertion Criteria Provided	CA226553	rs_61752882	2 SubmittersRCV000085200 RCV001250685
NM_000329.3(RPE65):c.499G>T (p.Asp167Tyr)	SNV Germline	Chr1:68440997	Pathogenic	Condition: not provided Retinitis pigmentosa 20 RPE65-related disorder Leber congenital amaurosis 2 Retinitis pigmentosa 20 Leber congenital amaurosis 2 Leber congenital amaurosis RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA226557	rs_61752883	10 SubmittersRCV000085203 RCV000678617 RCV000778252 RCV001250708 RCV001245153 RCV001831894 RCV004527316
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 RPE65-related recessive retinopathy Leber congenital amaurosis 2	Reviewed By Expert Panel	CA226559	rs_61752884	5 SubmittersRCV000085205 RCV001257821 RCV001388257 RCV004527317 RCV004566979
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 Leber congenital amaurosis 2 Retinitis pigmentosa 20 Leber congenital amaurosis 2 Leber congenital amaurosis RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA226576	rs_61751277	10 SubmittersRCV000085218 RCV001250672 RCV001218527 RCV002222384 RCV003764796
NM_000329.3(RPE65):c.715T>G (p.Tyr239Asp)	SNV Germline	Chr1:68439571	Pathogenic	Condition: not provided Leber congenital amaurosis 2 Retinitis pigmentosa 20 Leber congenital amaurosis 2 Leber congenital amaurosis RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA226579	rs_61752896	7 SubmittersRCV000085220 RCV000678618 RCV001207227 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 Retinal dystrophy Leber congenital amaurosis Leber congenital amaurosis 2 Retinitis pigmentosa 20 Retinitis pigmentosa 87 with choroidal involvement Leber congenital amaurosis 2 RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA226591	rs_61751279	13 SubmittersRCV000085232 RCV000668398 RCV001074560 RCV001003189 RCV001250674 RCV002498451 RCV003460771
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	Pathogenic	Condition: not provided Retinitis pigmentosa 20 Leber congenital amaurosis 2 Leber congenital amaurosis 2	Criteria Provided Single Submitter	CA226599	rs_61752908	3 SubmittersRCV000085237 RCV000808234 RCV001250691
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 Stargardt disease 3 Severe early-childhood-onset retinal dystrophy Retinal dystrophy Age related macular degeneration 2 ABCA4-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA226973	rs_61749423	16 SubmittersRCV000085458 RCV000210310 RCV000504983 RCV004558307 RCV000408512 RCV001073628 RCV001195987 RCV004732663
NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp)	SNV Germline	Chr1:94021340	Pathogenic/Likely pathogenic; other	Condition: not provided Retinal dystrophy Severe early-childhood-onset retinal dystrophy Leber congenital amaurosis Stargardt disease Cone-rod dystrophy 3 Retinitis pigmentosa 19 Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy ABCA4-related disorder Cone-rod dystrophy 3	Criteria Provided Multiple Submitters No Conflicts	CA227253	rs_61751404	20 SubmittersRCV000085683 RCV000210311 RCV000408519 RCV000505114 RCV000787504 RCV002505017 RCV004732674 RCV004760372
NM_000554.6(CRX):c.166G>A (p.Ala56Thr)	SNV Germline	Chr19:47836308	Likely pathogenic	Condition: not provided Cone-rod dystrophy 2 Leber congenital amaurosis 7	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 Cone-rod dystrophy 2 Leber congenital amaurosis 7	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	Cone-rod dystrophy 2 Retinitis pigmentosa Leber congenital amaurosis 7 Cone-rod dystrophy 2 Leber congenital amaurosis 7 Condition: not provided	Criteria Provided Conflicting Classifications	CA227619	rs_145805694	7 SubmittersRCV000374438 RCV000282603 RCV000335244 RCV001512740 RCV000085996
NM_000554.6(CRX):c.425A>G (p.Tyr142Cys)	SNV Germline	Chr19:47839492	Conflicting classifications of pathogenicity	Retinitis pigmentosa Cone-rod dystrophy 2 Leber congenital amaurosis 7 Leber congenital amaurosis 7 Leber congenital amaurosis 1 Cone-rod dystrophy 2 Autosomal dominant retinitis pigmentosa CRX-related disorder Retinal dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA227624	rs_61748442	11 SubmittersRCV000787829 RCV001089193 RCV001131569 RCV000990235 RCV001131568 RCV001257854 RCV004755770 RCV004815140 RCV000086001
NM_000554.6(CRX):c.549G>A (p.Gly183=)	SNV Germline	Chr19:47839616	Conflicting classifications of pathogenicity	Retinitis pigmentosa Cone-rod dystrophy 2 Leber congenital amaurosis 7 Leber congenital amaurosis 7 Cone-rod dystrophy 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA227634	rs_61748451	4 SubmittersRCV001132601 RCV001132602 RCV001132603 RCV001474134 RCV000086010
NM_000554.6(CRX):c.597C>T (p.Ser199=)	SNV Germline	Chr19:47839664	Conflicting classifications of pathogenicity	Condition: not provided Cone-rod dystrophy 2 Retinitis pigmentosa Leber congenital amaurosis 7 Cone-rod dystrophy 2 Leber congenital amaurosis 7 CRX-related disorder	Criteria Provided Conflicting Classifications	CA227639	rs_61748455	4 SubmittersRCV000086014 RCV000277021 RCV000368298 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	Criteria Provided Multiple Submitters No Conflicts	CA227705	rs_62636511	6 SubmittersRCV000086069 RCV001542663 RCV004689604 RCV004794360
NM_003322.6(TULP1):c.1486G>A (p.Ala496Thr)	SNV Germline	Chr6:35499990	Conflicting classifications of pathogenicity	not specified Retinitis pigmentosa Leber congenital amaurosis 15 TULP1-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA227706	rs_141980901	9 SubmittersRCV000591717 RCV001156199 RCV001156200 RCV004734646 RCV000086070
NM_003322.6(TULP1):c.1495+1G>A	SNV Germline	Chr6:35499980	Pathogenic	Condition: not provided Leber congenital amaurosis 15 Retinitis pigmentosa 14 Autosomal recessive retinitis pigmentosa Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA227708	rs_281865168	8 SubmittersRCV000086071 RCV000454167 RCV000454250 RCV001257785 RCV001075035
NM_003322.6(TULP1):c.1496-6C>A	SNV Germline	Chr6:35498466	Pathogenic/Likely pathogenic	Condition: not provided Retinitis pigmentosa Retinal dystrophy Retinitis pigmentosa 14 Leber congenital amaurosis Leber congenital amaurosis 15 Retinitis pigmentosa 14	Criteria Provided Multiple Submitters No Conflicts	CA227709	rs_281865171	11 SubmittersRCV000086072 RCV000787923 RCV001073440 RCV001376339 RCV002228330 RCV002483168
NM_003322.6(TULP1):c.99+1G>A	SNV Germline	Chr6:35512638	Pathogenic/Likely pathogenic	Condition: not provided Leber congenital amaurosis 15 Retinitis pigmentosa 14	Criteria Provided Multiple Submitters No Conflicts	CA227719	rs_281865166	5 SubmittersRCV000086081 RCV001255922 RCV001376338
NM_014336.5(AIPL1):c.234C>T (p.Ser78=)	SNV Germline	Chr17:6433961	Conflicting classifications of pathogenicity	not specified Leber congenital amaurosis 4 Retinitis pigmentosa Condition: not provided	Criteria Provided Conflicting Classifications	CA227868	rs_62635774	4 SubmittersRCV000363858 RCV001078533 RCV001125502 RCV000086214
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	Retinitis Pigmentosa, Recessive Retinitis Pigmentosa, Dominant Leber congenital amaurosis 4 Condition: not provided	Criteria Provided Conflicting Classifications	CA227893	rs_62637018	3 SubmittersRCV000263430 RCV000353479 RCV001085755 RCV000086232
NM_014336.5(AIPL1):c.97-9G>A	SNV Germline	Chr17:6434107	Conflicting classifications of pathogenicity	Retinitis Pigmentosa, Dominant Retinitis Pigmentosa, Recessive Leber congenital amaurosis 4 not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA227901	rs_140124986	5 SubmittersRCV000360989 RCV000303893 RCV001080115 RCV001699204 RCV000086237
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 Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Joubert syndrome 5 Leber congenital amaurosis Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA227967	rs_62640581	8 SubmittersRCV000086289 RCV001216498 RCV001199210 RCV001831897 RCV002498466 RCV003467011
NM_025114.4(CEP290):c.4771C>T (p.Gln1591Ter)	SNV Germline	Chr12:88083888	Pathogenic	Condition: not provided Leber congenital amaurosis Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Bardet-Biedl syndrome 14 CEP290-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA227973	rs_62640574	5 SubmittersRCV000086293 RCV001002936 RCV001385691 RCV003467013 RCV004542803
NM_025114.4(CEP290):c.4966G>T (p.Glu1656Ter)	SNV Germline	Chr12:88083077	Pathogenic/Likely pathogenic	Condition: not provided CEP290-related disorder Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Senior-Loken syndrome 6 Leber congenital amaurosis Leber congenital amaurosis 10 Retinitis pigmentosa CEP290-related ciliopathy Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA227975	rs_62638179	9 SubmittersRCV000086294 RCV000263885 RCV000637002 RCV001335142 RCV001276492 RCV002227445 RCV001723671 RCV004593991 RCV003467014
NM_201253.3(CRB1):c.1148G>A (p.Cys383Tyr)	SNV Germline	Chr1:197356990	Pathogenic/Likely pathogenic	Condition: not provided Retinitis pigmentosa 12 Retinal dystrophy Leber congenital amaurosis Leber congenital amaurosis 8 Retinitis pigmentosa 12 Leber congenital amaurosis 8 Pigmented paravenous retinochoroidal atrophy Leber congenital amaurosis 8 Pigmented paravenous retinochoroidal atrophy Retinitis pigmentosa 12	Criteria Provided Multiple Submitters No Conflicts	CA227987	rs_62645754	8 SubmittersRCV000086304 RCV003453010 RCV004815175 RCV001002989 RCV001857423 RCV001250593 RCV003453011 RCV002498468
NM_201253.3(CRB1):c.1208C>G (p.Ser403Ter)	SNV Germline	Chr1:197421036	Pathogenic	Condition: not provided Leber congenital amaurosis 8 Leber congenital amaurosis 8 Retinitis pigmentosa 12	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 Retinitis pigmentosa 12 Leber congenital amaurosis 8 Retinal dystrophy	Criteria Provided Conflicting Classifications	CA227991	rs_62636282	5 SubmittersRCV000086307 RCV000310950 RCV000274599 RCV000370258 RCV001080606 RCV003888496
NM_201253.3(CRB1):c.1438T>C (p.Cys480Arg)	SNV Germline	Chr1:197421266	Pathogenic/Likely pathogenic	Condition: not provided Retinitis pigmentosa 12 Retinitis pigmentosa 12 Leber congenital amaurosis 8 Leber congenital amaurosis Pigmented paravenous retinochoroidal atrophy Retinal dystrophy Leber congenital amaurosis 8	Criteria Provided Multiple Submitters No Conflicts	CA227993	rs_62636264	8 SubmittersRCV000086308 RCV001376374 RCV000797320 RCV001826777 RCV003453013 RCV003235040 RCV003453012
NM_201253.3(CRB1):c.1647T>C (p.Asn549=)	SNV Germline	Chr1:197421475	Conflicting classifications of pathogenicity	Leber congenital amaurosis 8 Retinitis pigmentosa Pigmented paravenous retinochoroidal atrophy Retinitis pigmentosa 12 Leber congenital amaurosis 8 Condition: not provided	Criteria Provided Conflicting Classifications	CA227996	rs_62636283	5 SubmittersRCV000324209 RCV000283110 RCV000378808 RCV001084432 RCV000086310
NM_201253.3(CRB1):c.2042G>A (p.Cys681Tyr)	SNV Germline	Chr1:197421870	Pathogenic/Likely pathogenic	Condition: not provided Retinal dystrophy Leber congenital amaurosis 8 Retinitis pigmentosa 12 Leber congenital amaurosis Retinitis pigmentosa 12 Leber congenital amaurosis 8	Criteria Provided Multiple Submitters No Conflicts	CA228000	rs_62636266	8 SubmittersRCV000086312 RCV004815176 RCV001046839 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 Leber congenital amaurosis 8 Retinitis pigmentosa 12 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	Leber congenital amaurosis 8 Condition: not provided Leber congenital amaurosis 8 Pigmented paravenous retinochoroidal atrophy Retinitis pigmentosa 12 Leber congenital amaurosis Leber congenital amaurosis 8 Retinitis pigmentosa 12 Retinitis pigmentosa 12 CRB1-related disorder Optic atrophy	Criteria Provided Conflicting Classifications	CA228017	rs_62636290	8 SubmittersRCV001526761 RCV000086327 RCV000763788 RCV001826778 RCV001239396 RCV001563888 RCV004529904 RCV004815178
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 Retinal dystrophy Leber congenital amaurosis 8 Leber congenital amaurosis Retinitis pigmentosa 12 Retinitis pigmentosa Pigmented paravenous retinochoroidal atrophy	Criteria Provided Multiple Submitters No Conflicts	CA203679	rs_62636273	14 SubmittersRCV000086328 RCV000542027 RCV000505142 RCV001074017 RCV001250608 RCV001275654 RCV001376474 RCV001723672 RCV003453019
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 Retinal dystrophy Leber congenital amaurosis 8 Retinitis pigmentosa 12 Leber congenital amaurosis 8 Pigmented paravenous retinochoroidal atrophy Retinitis pigmentosa 12	Criteria Provided Multiple Submitters No Conflicts	CA228036	rs_62636276	6 SubmittersRCV000086342 RCV001075774 RCV001250617 RCV001378740 RCV003453029 RCV003453028
NM_201253.3(CRB1):c.3320T>G (p.Leu1107Arg)	SNV Germline	Chr1:197435183	Pathogenic	Condition: not provided Retinitis pigmentosa 12 Leber congenital amaurosis 8 Leber congenital amaurosis 8	Criteria Provided Single Submitter	CA228037	rs_62636276	3 SubmittersRCV000086343 RCV002514529 RCV001250629
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 Leber congenital amaurosis 8 Leber congenital amaurosis 8 Retinitis pigmentosa 12 Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA228044	rs_281865174	5 SubmittersRCV000086348 RCV001250619 RCV001857425 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 Retinitis pigmentosa 12 Leber congenital amaurosis 8 Leber congenital amaurosis Retinitis pigmentosa 12	Criteria Provided Conflicting Classifications	CA228050	rs_62636262	4 SubmittersRCV000086355 RCV001242505 RCV001826780 RCV001588920
NM_201253.3(CRB1):c.614T>C (p.Ile205Thr)	SNV Germline	Chr1:197328965	Conflicting classifications of pathogenicity	Condition: not provided Leber congenital amaurosis 8 Pigmented paravenous retinochoroidal atrophy Leber congenital amaurosis 1 Retinitis pigmentosa Retinitis pigmentosa 12 Leber congenital amaurosis 8 Intellectual disability Leber congenital amaurosis	Criteria Provided Conflicting Classifications	CA228054	rs_62645749	10 SubmittersRCV000086360 RCV000382919 RCV000288080 RCV000986485 RCV000787825 RCV001080600 RCV001251962 RCV001271893
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 Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis 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	Leber congenital amaurosis 10 Joubert syndrome 5 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Condition: not provided Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Leber congenital amaurosis Kidney disorder Retinal dystrophy not specified	Criteria Provided Conflicting Classifications	CA150915	rs_61941020	18 SubmittersRCV000336982 RCV000292636 RCV000352237 RCV000399104 RCV000407985 RCV000436165 RCV001084256 RCV001826782 RCV002294031 RCV003888506 RCV000114201
NM_025132.4(WDR19):c.3533G>A (p.Arg1178Gln)	SNV Germline	Chr4:39273029	Conflicting classifications of pathogenicity	Senior-Loken syndrome 8 Condition: not provided Nephronophthisis 13 Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8 Cranioectodermal dysplasia Leber congenital amaurosis Cranioectodermal dysplasia 4 Nephronophthisis 13	Criteria Provided Conflicting Classifications	CA151412	rs_79436363	8 SubmittersRCV000115014 RCV000433622 RCV000850617 RCV000653250 RCV000754960 RCV001262101 RCV003224150 RCV003224149
NM_025114.4(CEP290):c.1624-5T>C	SNV Germline	Chr12:88118575	Conflicting classifications of pathogenicity	not specified Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Meckel syndrome, type 4 Leber congenital amaurosis 10 Joubert syndrome 5 Nephronophthisis Meckel-Gruber syndrome Familial aplasia of the vermis Leber congenital amaurosis Kidney disorder Leber congenital amaurosis 10 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Bardet-Biedl syndrome 14	Criteria Provided Conflicting Classifications	CA290037	rs_142742071	9 SubmittersRCV000124244 RCV000266641 RCV000262275 RCV000321698 RCV000297299 RCV000361419 RCV000475858 RCV001274128 RCV002294036 RCV002505080
NM_025114.4(CEP290):c.3465G>A (p.Leu1155=)	SNV Germline	Chr12:88090836	Conflicting classifications of pathogenicity	not specified Bardet-Biedl syndrome 14 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Nephronophthisis Meckel-Gruber syndrome Familial aplasia of the vermis Leber congenital amaurosis Condition: not provided Kidney disorder	Criteria Provided Conflicting Classifications	CA290039	rs_150138016	7 SubmittersRCV000124246 RCV000279934 RCV000293222 RCV000372128 RCV000337209 RCV000375509 RCV000459124 RCV001271579 RCV001812001 RCV002294037
NM_025114.4(CEP290):c.5199A>G (p.Gln1733=)	SNV Germline	Chr12:88080209	Conflicting classifications of pathogenicity	not specified Joubert syndrome 5 Senior-Loken syndrome 6 Meckel syndrome, type 4 Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Nephronophthisis Meckel-Gruber syndrome Familial aplasia of the vermis Leber congenital amaurosis Condition: not provided Kidney disorder	Criteria Provided Conflicting Classifications	CA290041	rs_79644671	8 SubmittersRCV000124248 RCV000267777 RCV000259368 RCV000322977 RCV000319253 RCV000354431 RCV000472139 RCV001276489 RCV001812002 RCV002294038
NM_000180.4(GUCY2D):c.164C>T (p.Thr55Met)	SNV Germline	Chr17:8003211	Conflicting classifications of pathogenicity	Condition: not provided Cone-rod dystrophy 6 Leber congenital amaurosis 1 Cone-rod dystrophy 6 not specified	Criteria Provided Conflicting Classifications	CA232809	rs_201414567	6 SubmittersRCV000132567 RCV000989734 RCV001079675 RCV001725998
NM_025114.4(CEP290):c.6787A>G (p.Ser2263Gly)	SNV Germline	Chr12:88058879	Conflicting classifications of pathogenicity	Condition: not provided Joubert syndrome 1 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Leber congenital amaurosis Retinal dystrophy Leber congenital amaurosis 10 Joubert syndrome 5 not specified Meckel syndrome, type 4 Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome	Criteria Provided Conflicting Classifications	CA207418	rs_77778467	12 SubmittersRCV000132681 RCV000988879 RCV001109949 RCV001109950 RCV001272010 RCV003888568 RCV000490488 RCV001110732 RCV000193732 RCV001110731 RCV001083794
NM_201253.3(CRB1):c.1576C>T (p.Arg526Ter)	SNV Germline	Chr1:197421404	Pathogenic/Likely pathogenic	Leber congenital amaurosis 8 Leber congenital amaurosis Leber congenital amaurosis 8 Retinitis pigmentosa 12 Retinitis pigmentosa 12 Pigmented paravenous retinochoroidal atrophy Condition: not provided Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA170083	rs_114342808	12 SubmittersRCV000132698 RCV001002990 RCV000792250 RCV003453098 RCV003453099 RCV000179572 RCV001073589
NM_206933.4(USH2A):c.14243C>T (p.Ser4748Phe)	SNV Germline	Chr1:215650692	Pathogenic	Retinitis pigmentosa Leber congenital amaurosis Retinitis pigmentosa 39 Usher syndrome type 2A Condition: not provided Retinitis pigmentosa 39 Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA270145	rs_527236126	6 SubmittersRCV000132706 RCV000144482 RCV000675147 RCV002514760 RCV003462051 RCV003888572
NM_025114.4(CEP290):c.1711+1G>A	SNV Germline	Chr12:88118482	Pathogenic/Likely pathogenic	Leber congenital amaurosis 10 Meckel-Gruber syndrome Familial aplasia of the vermis Nephronophthisis Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Joubert syndrome 5 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 CEP290-related disorder Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA345951	rs_587783009	6 SubmittersRCV000144459 RCV001384909 RCV002492522 RCV003467201 RCV003387770 RCV003888575
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 Leber congenital amaurosis Condition: not provided Familial aplasia of the vermis	Criteria Provided Multiple Submitters No Conflicts	CA270780	rs_587783013	10 SubmittersRCV000144464 RCV000678521 RCV001262092 RCV001698972 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 Familial aplasia of the vermis 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 Joubert syndrome 5 CEP290-related disorder Senior-Loken syndrome 6 Joubert syndrome 5 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome Leber congenital amaurosis Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA233675	rs_201504946	8 SubmittersRCV000152977 RCV000281671 RCV000313475 RCV000348281 RCV000390170 RCV004528881 RCV000763864 RCV000373904 RCV001245512 RCV001279535 RCV002516071
NM_025114.4(CEP290):c.226G>A (p.Ala76Thr)	SNV Germline	Chr12:88139519	Conflicting classifications of pathogenicity	Condition: not provided CEP290-related disorder Joubert syndrome 5 Inborn genetic diseases Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome Bardet-Biedl syndrome 14 Meckel syndrome, type 4 not specified Leber congenital amaurosis 10 Senior-Loken syndrome 6	Criteria Provided Conflicting Classifications	CA233682	rs_373913704	9 SubmittersRCV000723892 RCV004528882 RCV001110739 RCV003298162 RCV001079764 RCV001110738 RCV001110740 RCV001818343 RCV001109956 RCV001110741
NM_201253.3(CRB1):c.2291G>A (p.Arg764His)	SNV Germline	Chr1:197427616	Pathogenic/Likely pathogenic	Condition: not provided Leber congenital amaurosis 8 Retinitis pigmentosa 12 Leber congenital amaurosis 8 Leber congenital amaurosis Pigmented paravenous retinochoroidal atrophy Pigmented paravenous retinochoroidal atrophy Leber congenital amaurosis 8 Retinitis pigmentosa 12	Criteria Provided Multiple Submitters No Conflicts	CA233861	rs_375040930	7 SubmittersRCV000153110 RCV001235069 RCV001250605 RCV001831949 RCV002247550 RCV004796048
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln)	SNV Germline	Chr12:88125356	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Senior-Loken syndrome 6 Retinal dystrophy Condition: not provided Joubert syndrome 1 Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome Leber congenital amaurosis 10 Leber congenital amaurosis Atypical hemolytic-uremic syndrome not specified Joubert syndrome 5	Criteria Provided Conflicting Classifications	CA179860	rs_188164241	16 SubmittersRCV001110567 RCV001110568 RCV001110569 RCV004815226 RCV000658663 RCV000988890 RCV001084283 RCV001110571 RCV001275040 RCV002294046 RCV000152980 RCV001110570
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 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Intellectual disability Bardet-Biedl syndrome 14 Leber congenital amaurosis Condition: not provided Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome Leber congenital amaurosis 10	Criteria Provided Conflicting Classifications	CA179856	rs_117852025	14 SubmittersRCV000152970 RCV001114077 RCV001114078 RCV001114079 RCV001252445 RCV001114081 RCV001272012 RCV000224947 RCV001082043 RCV001114080
NM_025114.4(CEP290):c.1667T>A (p.Ile556Asn)	SNV Germline	Chr12:88118527	Conflicting classifications of pathogenicity	Leber congenital amaurosis Condition: not provided CEP290-related disorder not specified Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome	Criteria Provided Conflicting Classifications	CA233677	rs_727503854	5 SubmittersRCV001275036 RCV000723757 RCV004532719 RCV000152978 RCV001058824
NM_014336.5(AIPL1):c.1006G>A (p.Ala336Thr)	SNV Germline	Chr17:6425609	Conflicting classifications of pathogenicity	Condition: not provided not specified Leber congenital amaurosis 4 AIPL1-related disorder Retinal dystrophy	Criteria Provided Conflicting Classifications	CA233457	rs_143092701	8 SubmittersRCV000723947 RCV000152763 RCV001085552 RCV004732710 RCV004815222
NM_201253.3(CRB1):c.3166G>T (p.Asp1056Tyr)	SNV Germline	Chr1:197435029	Pathogenic/Likely pathogenic	Condition: not provided Retinitis pigmentosa 12 Leber congenital amaurosis 8 Retinitis pigmentosa 12	Criteria Provided Multiple Submitters No Conflicts	CA233863	rs_727503889	3 SubmittersRCV000153112 RCV001526715 RCV001850090
NM_018418.5(SPATA7):c.1033A>G (p.Met345Val)	SNV Germline	Chr14:88431176	Conflicting classifications of pathogenicity	Condition: not provided Leber congenital amaurosis 3 Retinitis pigmentosa Retinal dystrophy	Criteria Provided Conflicting Classifications	CA234982	rs_375371982	6 SubmittersRCV000153988 RCV001049973 RCV001120978 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 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Bardet-Biedl syndrome 14 Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Retinal dystrophy	Criteria Provided Conflicting Classifications	CA233673	rs_73192874	4 SubmittersRCV000152976 RCV000399776 RCV000291841 RCV000346891 RCV000400108 RCV000344957 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 Leber congenital amaurosis 8 Retinitis pigmentosa 12 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/Likely pathogenic	Achromatopsia 3 Leber congenital amaurosis Retinal dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA274008	rs_773372519	8 SubmittersRCV000169173 RCV000678548 RCV001074271 RCV001036288
NM_018418.5(SPATA7):c.94+2T>C	SNV Germline	Chr14:88391457	Likely pathogenic	Leber congenital amaurosis 3	Criteria Provided Single Submitter	CA274500	rs_786204787	1 SubmittersRCV000169677
NM_001164688.2(RD3):c.180C>A (p.Tyr60Ter)	SNV Germline	Chr1:211481236	Pathogenic	Condition: not provided Leber congenital amaurosis 12	Criteria Provided Single Submitter	CA274682	rs_762631020	2 SubmittersRCV001726018 RCV000170305
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	Condition: not provided Retinal dystrophy Leber congenital amaurosis 9	Criteria Provided Multiple Submitters No Conflicts	CA235735	rs_748902766	6 SubmittersRCV000171148 RCV001075815 RCV001256641
NM_201253.3(CRB1):c.1180T>C (p.Cys394Arg)	SNV Germline	Chr1:197421008	Pathogenic	Condition: not provided Autosomal recessive retinitis pigmentosa Leber congenital amaurosis 8 Retinitis pigmentosa 12 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	Criteria Provided Multiple Submitters No Conflicts	CA235914	rs_767745816	8 SubmittersRCV000171226 RCV001003226 RCV001257831 RCV001852064
NM_000554.6(CRX):c.274G>A (p.Ala92Thr)	SNV Germline	Chr19:47839341	Conflicting classifications of pathogenicity	Condition: not provided Cone-rod dystrophy 2 Leber congenital amaurosis 7 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	Autosomal recessive retinitis pigmentosa Condition: not provided Retinitis pigmentosa 14 Leber congenital amaurosis 15 Retinal dystrophy	Criteria Provided Conflicting Classifications	CA236254	rs_770045008	7 SubmittersRCV001257784 RCV000171394 RCV004796064 RCV003888608
NM_201253.3(CRB1):c.2783G>A (p.Cys928Tyr)	SNV Germline	Chr1:197429555	Pathogenic/Likely pathogenic	Leber congenital amaurosis 8 Retinitis pigmentosa	Criteria Provided Multiple Submitters No Conflicts	CA279259	rs_863223341	2 SubmittersRCV003474924 RCV000201433
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	5 SubmittersRCV000174020 RCV000281510 RCV000322287 RCV000765929 RCV000877998 RCV004535194
NM_025114.4(CEP290):c.1522+6C>T	SNV Germline	Chr12:88120108	Conflicting classifications of pathogenicity	not specified Condition: not provided Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome Leber congenital amaurosis 10 Joubert syndrome 5 Senior-Loken syndrome 6 Meckel syndrome, type 4 Bardet-Biedl syndrome 14	Criteria Provided Conflicting Classifications	CA201235	rs_148446546	9 SubmittersRCV000174953 RCV000835406 RCV001084413 RCV001112003 RCV001112004 RCV001112005 RCV001112002 RCV001112006
NM_000180.4(GUCY2D):c.3098C>T (p.Ser1033Leu)	SNV Germline	Chr17:8015981	Conflicting classifications of pathogenicity	Condition: not provided Cone-rod dystrophy 6 Leber congenital amaurosis 1 GUCY2D-related disorder	Criteria Provided Conflicting Classifications	CA240817	rs_146149224	4 SubmittersRCV000585411 RCV001083338 RCV003982924
NM_025114.4(CEP290):c.1716A>G (p.Leu572=)	SNV Germline	Chr12:88117141	Conflicting classifications of pathogenicity	Leber congenital amaurosis not specified Meckel-Gruber syndrome Nephronophthisis Familial aplasia of the vermis Condition: not provided	Criteria Provided Conflicting Classifications	CA241104	rs_372349042	5 SubmittersRCV001275034 RCV000175368 RCV001088014 RCV000724312
NM_000180.4(GUCY2D):c.271G>C (p.Ala91Pro)	SNV Germline	Chr17:8003318	Conflicting classifications of pathogenicity	Condition: not provided Cone-rod dystrophy 6 Leber congenital amaurosis 1 GUCY2D-related disorder	Criteria Provided Conflicting Classifications	CA241298	rs_573367793	4 SubmittersRCV000175541 RCV002056936 RCV003917627
NM_000180.4(GUCY2D):c.519C>T (p.Tyr173=)	SNV Germline	Chr17:8003566	Conflicting classifications of pathogenicity	Condition: not provided Cone-rod dystrophy 6 Leber congenital amaurosis 1	Criteria Provided Conflicting Classifications	CA241300	rs_794727237	2 SubmittersRCV000175542 RCV002056937
NM_000180.4(GUCY2D):c.369C>T (p.Gly123=)	SNV Germline	Chr17:8003416	Conflicting classifications of pathogenicity	Condition: not provided Cone-rod dystrophy 6 Leber congenital amaurosis 1 not specified	Criteria Provided Conflicting Classifications	CA241302	rs_529594203	5 SubmittersRCV000415915 RCV001079674 RCV001706123
NM_020366.4(RPGRIP1):c.154C>T (p.Arg52Ter)	SNV Germline	Chr14:21294745	Pathogenic	Cone-rod dystrophy 13 Condition: not provided Leber congenital amaurosis 6 Cone-rod dystrophy 13 Leber congenital amaurosis 6	Criteria Provided Multiple Submitters No Conflicts	CA201680	rs_192003551	6 SubmittersRCV000175918 RCV000724658 RCV001261169 RCV001852161
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 Pigmented paravenous retinochoroidal atrophy Leber congenital amaurosis 8 Retinitis pigmentosa Leber congenital amaurosis 8 Retinitis pigmentosa 12 Condition: not provided Leber congenital amaurosis	Criteria Provided Conflicting Classifications	CA201752	rs_77713666	7 SubmittersRCV000176012 RCV000386258 RCV000277900 RCV000331649 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 not specified Joubert syndrome 5 Senior-Loken syndrome 6 Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Leber congenital amaurosis 10 Leber congenital amaurosis CEP290-related disorder Retinal dystrophy	Criteria Provided Conflicting Classifications	CA205610	rs_182369459	11 SubmittersRCV000176690 RCV000192651 RCV000660467 RCV001113515 RCV001082205 RCV001113514 RCV001111528 RCV001111529 RCV001275025 RCV004528939 RCV004816280
NM_000329.3(RPE65):c.168A>G (p.Pro56=)	SNV Germline	Chr1:68446787	Conflicting classifications of pathogenicity	Condition: not provided Retinitis pigmentosa 20 Leber congenital amaurosis 2 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 Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Bardet-Biedl syndrome 14 Joubert syndrome 5 Senior-Loken syndrome 6 Meckel syndrome, type 4 Leber congenital amaurosis 10 Condition: not provided Leber congenital amaurosis CEP290-related disorder	Criteria Provided Conflicting Classifications	CA202523	rs_201838492	12 SubmittersRCV000177576 RCV000198308 RCV000300808 RCV000335768 RCV000348352 RCV000401126 RCV000400157 RCV001699223 RCV001826899 RCV004528944
NM_025114.4(CEP290):c.4102G>A (p.Asp1368Asn)	SNV Germline	Chr12:88087872	Conflicting classifications of pathogenicity	Condition: not provided Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Leber congenital amaurosis not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA244173	rs_184143186	8 SubmittersRCV000177662 RCV001080328 RCV001273073 RCV003150971 RCV004975310
NM_025114.4(CEP290):c.5182G>T (p.Glu1728Ter)	SNV Germline	Chr12:88080226	Pathogenic/Likely pathogenic	Condition: not provided Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Leber congenital amaurosis 10 Leber congenital amaurosis Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA275233	rs_370119681	10 SubmittersRCV000523279 RCV001036300 RCV001376454 RCV001826904 RCV002222427 RCV003468864 RCV004816287
NM_025114.4(CEP290):c.5322C>T (p.Leu1774=)	SNV Germline	Chr12:88079134	Conflicting classifications of pathogenicity	not specified Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Joubert syndrome 5 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Condition: not provided Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Leber congenital amaurosis Inborn genetic diseases CEP290-related disorder	Criteria Provided Conflicting Classifications	CA202689	rs_117370446	15 SubmittersRCV000178010 RCV000268862 RCV000265423 RCV000320490 RCV000364677 RCV000328615 RCV000712032 RCV001082773 RCV001832019 RCV003352794 RCV004528947
NM_000180.4(GUCY2D):c.1290C>T (p.Ala430=)	SNV Germline	Chr17:8006626	Conflicting classifications of pathogenicity	Condition: not provided Cone-rod dystrophy 6 Leber congenital amaurosis 1	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 GUCY2D-related disorder	Criteria Provided Conflicting Classifications	CA245079	rs_138836357	9 SubmittersRCV000487602 RCV000989735 RCV001083929 RCV001001148 RCV004816289 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 Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Leber congenital amaurosis Condition: not provided	Criteria Provided Conflicting Classifications	CA202959	rs_191613017	5 SubmittersRCV000178636 RCV000637007 RCV001272011 RCV001697163
NM_152443.3(RDH12):c.195A>C (p.Arg65=)	SNV Germline	Chr14:67725106	Conflicting classifications of pathogenicity	Condition: not provided Leber congenital amaurosis 13 Retinitis pigmentosa	Criteria Provided Conflicting Classifications	CA246260	rs_771614823	3 SubmittersRCV000179017 RCV001430505 RCV001109344
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 Cone-rod dystrophy 6 Leber congenital amaurosis 1	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	Condition: not provided Senior-Loken syndrome 6 Familial aplasia of the vermis 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 10 Meckel syndrome, type 4 Joubert syndrome 5 Retinal dystrophy not specified CEP290-related disorder	Criteria Provided Conflicting Classifications	CA246815	rs_140236736	7 SubmittersRCV000179537 RCV001112634 RCV001085617 RCV001112630 RCV001112631 RCV001112632 RCV001112633 RCV003227695 RCV003888636 RCV003488430 RCV004539683
NM_025114.4(CEP290):c.341G>A (p.Arg114His)	SNV Germline	Chr12:88136743	Conflicting classifications of pathogenicity	not specified Condition: not provided Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Leber congenital amaurosis Joubert syndrome 5 CEP290-related disorder	Criteria Provided Conflicting Classifications	CA246817	rs_150296134	11 SubmittersRCV000179538 RCV000724859 RCV001082749 RCV001275047 RCV001526756 RCV004537490
NM_201253.3(CRB1):c.2462C>T (p.Thr821Met)	SNV Germline	Chr1:197427787	Conflicting classifications of pathogenicity	Condition: not provided Leber congenital amaurosis 8 Retinitis pigmentosa 12 Retinitis pigmentosa 12 Leber congenital amaurosis 8 Retinal dystrophy	Criteria Provided Conflicting Classifications	CA247395	rs_142857810	8 SubmittersRCV000488061 RCV001087243 RCV001376275 RCV001563786 RCV003888637
NM_001122769.3(LCA5):c.2026G>T (p.Asp676Tyr)	SNV Germline	Chr6:79487072	Conflicting classifications of pathogenicity	Condition: not provided Leber congenital amaurosis 5 Leber congenital amaurosis	Criteria Provided Conflicting Classifications	CA248276	rs_143582502	4 SubmittersRCV000180711 RCV001335589 RCV001272068
NM_025114.4(CEP290):c.4243G>T (p.Glu1415Ter)	SNV Germline	Chr12:88086450	Likely pathogenic	Senior-Loken syndrome 6 Bardet-Biedl syndrome Meckel syndrome, type 4 Leber congenital amaurosis 10 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	Likely pathogenic	Leber congenital amaurosis 16 Leber congenital amaurosis	Criteria Provided Single Submitter	CA278972	rs_863224884	2 SubmittersRCV000197888 RCV000515663
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 Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome Retinal dystrophy Bardet-Biedl syndrome 14 Leber congenital amaurosis 10	Criteria Provided Multiple Submitters No Conflicts	CA277735	rs_371525247	7 SubmittersRCV000201627 RCV000598256 RCV001382359 RCV004816348 RCV003468924 RCV004798806
NM_025114.4(CEP290):c.5344C>T (p.Arg1782Ter)	SNV Germline	Chr12:88079112	Pathogenic	Joubert syndrome 5 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Joubert syndrome 5 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome Condition: not provided Bardet-Biedl syndrome 14 CEP290-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA277810	rs_575767207	7 SubmittersRCV000201766 RCV000763310 RCV001058542 RCV000598977 RCV003468923 RCV004732784
NM_025114.4(CEP290):c.4882C>T (p.Gln1628Ter)	SNV Germline	Chr12:88083161	Pathogenic	Blindness Global developmental delay Condition: not provided Joubert syndrome 5 Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome Leber congenital amaurosis 10 Senior-Loken syndrome 6 Joubert syndrome 5 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Cystic renal dysplasia Occipital encephalocele Leber congenital amaurosis Bardet-Biedl syndrome 14 Retinal dystrophy Inborn genetic diseases CEP290-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA277760	rs_376493409	12 SubmittersRCV000414892 RCV000493605 RCV000201672 RCV000806654 RCV000763311 RCV000626966 RCV001271568 RCV003462354 RCV004816347 RCV002519581 RCV004732783
NM_025114.4(CEP290):c.4522C>T (p.Arg1508Ter)	SNV Germline	Chr12:88084768	Pathogenic	Condition: not provided Joubert syndrome 5 Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome Leber congenital amaurosis 10 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Joubert syndrome 5 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Leber congenital amaurosis Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA277724	rs_749439750	14 SubmittersRCV000521437 RCV000201597 RCV001036850 RCV002250594 RCV002485329 RCV001828040 RCV003468926 RCV003155122 RCV004816349
NM_025114.4(CEP290):c.4393C>T (p.Arg1465Ter)	SNV Germline	Chr12:88086083	Pathogenic	Joubert syndrome 5 Leber congenital amaurosis Meckel syndrome, type 4 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Joubert syndrome 5 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome Condition: not provided Leber congenital amaurosis 10 Occipital encephalocele Bardet-Biedl syndrome 14 CEP290-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA277705	rs_539400286	16 SubmittersRCV000201563 RCV001002937 RCV000502726 RCV000763314 RCV000816913 RCV001529566 RCV001589085 RCV001030764 RCV003468919 RCV004732782
NM_000554.6(CRX):c.449C>G (p.Ser150Ter)	SNV Germline	Chr19:47839516	Pathogenic/Likely pathogenic	Benign concentric annular macular dystrophy Cone-rod dystrophy 2 Leber congenital amaurosis 7 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA339650	rs_864309706	3 SubmittersRCV000203264 RCV001208760 RCV004721295
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	Toriello-Lacassie-Droste syndrome Leber congenital amaurosis	Criteria Provided Single Submitter	CA358306	rs_751218423	2 SubmittersRCV000210001 RCV000210897
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 Leber congenital amaurosis Retinitis pigmentosa 12 Leber congenital amaurosis 8 Retinal dystrophy	Criteria Provided Conflicting Classifications	CA1312195	rs_114052315	5 SubmittersRCV000262643 RCV000329706 RCV000490294 RCV001275655 RCV000946241 RCV003888643
NM_025114.4(CEP290):c.251-11T>A	SNV Germline	Chr12:88139202	Conflicting classifications of pathogenicity	Condition: not provided not specified Senior-Loken syndrome 6 Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome Joubert syndrome 5 Meckel syndrome, type 4 Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6712862	rs_200666995	7 SubmittersRCV000224686 RCV000244417 RCV001109951 RCV001518146 RCV001109952 RCV001109954 RCV001109953 RCV001109955 RCV004529386
NM_201253.3(CRB1):c.2308G>A (p.Gly770Ser)	SNV Germline	Chr1:197427633	Pathogenic/Likely pathogenic	Retinal dystrophy Leber congenital amaurosis 8 Retinitis pigmentosa 12 Leber congenital amaurosis Retinitis pigmentosa 12 Leber congenital amaurosis 8 Pigmented paravenous retinochoroidal atrophy	Criteria Provided Multiple Submitters No Conflicts	CA1312098	rs_767648174	10 SubmittersRCV000225453 RCV001069480 RCV001833240 RCV001376283 RCV003454681 RCV003454682
NM_201253.3(CRB1):c.2833G>A (p.Gly945Arg)	SNV Germline	Chr1:197429605	Conflicting classifications of pathogenicity	Retinal dystrophy Leber congenital amaurosis 8 Retinitis pigmentosa 12	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 Leber congenital amaurosis 8 Retinitis pigmentosa 12	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	Criteria Provided Multiple Submitters No Conflicts	CA10581632	rs_878853367	3 SubmittersRCV000225544 RCV002519764
NM_000329.3(RPE65):c.726-2A>C	SNV Germline	Chr1:68439325	Pathogenic	Retinal dystrophy Retinitis pigmentosa 20 Leber congenital amaurosis 2	Criteria Provided Single Submitter	CA10581648	rs_878853372	2 SubmittersRCV000225374 RCV003765455
NM_025114.4(CEP290):c.1781T>A (p.Leu594Ter)	SNV Germline	Chr12:88117076	Pathogenic	Retinal dystrophy Bardet-Biedl syndrome 14 Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Condition: not provided Leber congenital amaurosis 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	CA6712475	rs_371496675	7 SubmittersRCV000225634 RCV003463626 RCV001389936 RCV000522611 RCV001274126 RCV002500754 RCV004532829
NM_025114.4(CEP290):c.297+1G>T	SNV Germline	Chr12:88139144	Pathogenic	Retinal dystrophy Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Bardet-Biedl syndrome 14 Condition: not provided Leber congenital amaurosis Meckel syndrome, type 4	Criteria Provided Multiple Submitters No Conflicts	CA10581686	rs_878853360	6 SubmittersRCV000225517 RCV001223284 RCV003469116 RCV001782716 RCV001833239 RCV003155133
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 Leber congenital amaurosis 6 Cone-rod dystrophy 13	Criteria Provided Single Submitter	CA7089216	rs_577932201	2 SubmittersRCV000225680 RCV002516255
NM_152443.3(RDH12):c.848+2T>C	SNV Germline	Chr14:67729382	Pathogenic	Retinal dystrophy Leber congenital amaurosis 13 Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA10581695	rs_878853338	4 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	4 SubmittersRCV000225474 RCV001053170 RCV001828100
NM_000180.4(GUCY2D):c.380C>T (p.Pro127Leu)	SNV Germline	Chr17:8003427	Conflicting classifications of pathogenicity	Retinal dystrophy Cone-rod dystrophy 6 Leber congenital amaurosis 1	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	Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6711411	rs_572443869	3 SubmittersRCV000226860 RCV001109944 RCV001109946 RCV001109945 RCV001109947 RCV001109948 RCV004725118
NM_025114.4(CEP290):c.4938A>G (p.Lys1646=)	SNV Germline	Chr12:88083105	Conflicting classifications of pathogenicity	Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 Bardet-Biedl syndrome 14 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	Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 Bardet-Biedl syndrome 14 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	7 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 Bardet-Biedl syndrome 14 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Condition: not provided Senior-Loken syndrome 6 Meckel-Gruber syndrome Familial aplasia of the vermis Nephronophthisis Leber congenital amaurosis	Criteria Provided Conflicting Classifications	CA6711707	rs_11104729	11 SubmittersRCV000246283 RCV000297940 RCV000338834 RCV000342377 RCV000391752 RCV000514061 RCV000402056 RCV001084053 RCV001828148
NM_025114.4(CEP290):c.4806G>A (p.Thr1602=)	SNV Germline	Chr12:88083853	Conflicting classifications of pathogenicity	not specified Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Joubert syndrome 5 Meckel-Gruber syndrome Familial aplasia of the vermis Nephronophthisis Condition: not provided Leber congenital amaurosis	Criteria Provided Conflicting Classifications	CA6711863	rs_201614215	8 SubmittersRCV000243671 RCV000270848 RCV000283968 RCV000328558 RCV000338967 RCV000383188 RCV000860688 RCV001546981 RCV001833282
NM_025114.4(CEP290):c.1558T>C (p.Phe520Leu)	SNV Germline	Chr12:88118708	Conflicting classifications of pathogenicity	not specified Bardet-Biedl syndrome 14 Joubert syndrome 5 Meckel-Gruber syndrome Familial aplasia of the vermis Nephronophthisis Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Condition: not provided	Criteria Provided Conflicting Classifications	CA6712524	rs_147371999	8 SubmittersRCV000254461 RCV001113718 RCV001113719 RCV001086907 RCV001109702 RCV001109701 RCV001109703 RCV001572697
NM_025114.4(CEP290):c.1298A>G (p.Asp433Gly)	SNV Germline	Chr12:88121058	Conflicting classifications of pathogenicity	not specified Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Bardet-Biedl syndrome 14 Joubert syndrome 5 Senior-Loken syndrome 6 Meckel syndrome, type 4 Leber congenital amaurosis 10 Leber congenital amaurosis Condition: not provided	Criteria Provided Conflicting Classifications	CA6712583	rs_200211587	9 SubmittersRCV000244107 RCV000860381 RCV001109774 RCV001113800 RCV001113801 RCV001113802 RCV001113799 RCV001275038 RCV001311004
NM_020366.4(RPGRIP1):c.1920C>T (p.Ala640=)	SNV Germline	Chr14:21324775	Conflicting classifications of pathogenicity	not specified Leber congenital amaurosis 6 Cone-rod dystrophy 13 Cone-rod dystrophy 13 Leber congenital amaurosis 6 Condition: not provided	Criteria Provided Conflicting Classifications	CA7089121	rs_368434311	5 SubmittersRCV000246883 RCV000333550 RCV000388083 RCV000952570 RCV003401208
NM_014336.5(AIPL1):c.-17C>A	SNV Germline	Chr17:6435121	Conflicting classifications of pathogenicity	not specified Retinitis Pigmentosa, Dominant Retinitis Pigmentosa, Recessive Leber congenital amaurosis 4	Criteria Provided Conflicting Classifications	CA8328687	rs_188246267	2 SubmittersRCV000251131 RCV000325640 RCV000296424 RCV000382676
NM_201253.3(CRB1):c.584G>T (p.Cys195Phe)	SNV Germline	Chr1:197328935	Pathogenic/Likely pathogenic	Condition: not provided Retinal dystrophy Retinitis pigmentosa 12 Macular dystrophy Retinitis pigmentosa 12 Pigmented paravenous retinochoroidal atrophy 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	CA1311659	rs_764256655	9 SubmittersRCV000255600 RCV001075823 RCV001542640 RCV000656138 RCV002500956 RCV003454773 RCV001040337 RCV003454774
NM_022787.4(NMNAT1):c.507G>A (p.Trp169Ter)	SNV Germline	Chr1:9982368	Pathogenic	Leber congenital amaurosis 9 Condition: not provided Inborn genetic diseases NMNAT1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA579271	rs_371526758	6 SubmittersRCV000030768 RCV000255071 RCV004649113 RCV004757984
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	Meckel-Gruber syndrome Familial aplasia of the vermis Nephronophthisis Condition: not provided Joubert syndrome 5 Retinal dystrophy Leber congenital amaurosis Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Leber congenital amaurosis 10 Joubert syndrome 5	Criteria Provided Multiple Submitters No Conflicts	CA6712427	rs_780225183	8 SubmittersRCV000636991 RCV000313260 RCV001199213 RCV001075417 RCV001833301 RCV003463734 RCV002500965
NM_020366.4(RPGRIP1):c.2668C>T (p.Arg890Ter)	SNV Germline	Chr14:21326131	Pathogenic	Condition: not provided Cone-rod dystrophy 13 Leber congenital amaurosis 6	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 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 not specified Meckel syndrome, type 4 Joubert syndrome 5 Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis CEP290-related disorder Inborn genetic diseases Leber congenital amaurosis Retinitis pigmentosa Condition: not provided Kidney disorder Stuve-Wiedemann syndrome 2	Criteria Provided Conflicting Classifications	CA6712623	rs_201988582	14 SubmittersRCV000280320 RCV000320212 RCV000342452 RCV000354111 RCV000374721 RCV000396707 RCV000637003 RCV000714822 RCV001265795 RCV001275039 RCV001589313 RCV001580478 RCV002294212 RCV003319345
NM_025114.4(CEP290):c.2722C>T (p.Arg908Ter)	SNV Germline	Chr12:88106770	Pathogenic	Condition: not provided Cone-rod dystrophy Joubert syndrome 1 Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome CEP290-related disorder Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 Joubert syndrome 5 Bardet-Biedl syndrome 14 Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA10603872	rs_886042153	11 SubmittersRCV000382757 RCV000787815 RCV000988885 RCV001380938 RCV002222465 RCV002479997 RCV003447521 RCV003469220 RCV004816477
NM_000329.3(RPE65):c.331C>T (p.Pro111Ser)	SNV Germline	Chr1:68444798	Pathogenic	Condition: not provided Retinitis pigmentosa 20 Leber congenital amaurosis 2 RPE65-related recessive retinopathy Leber congenital amaurosis 2	Reviewed By Expert Panel	CA10603953	rs_886042220	4 SubmittersRCV000288725 RCV002519096 RCV003765588 RCV004567825
NM_025114.4(CEP290):c.5803G>T (p.Glu1935Ter)	SNV Germline	Chr12:88071833	Pathogenic/Likely pathogenic	Condition: not provided Leber congenital amaurosis Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome Bardet-Biedl syndrome 14 CEP290-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA10604125	rs_886042360	6 SubmittersRCV000593831 RCV001199656 RCV001384490 RCV003469223 RCV004732816
NM_025114.4(CEP290):c.4476A>G (p.Glu1492=)	SNV Germline	Chr12:88084814	Conflicting classifications of pathogenicity	not specified Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome Joubert syndrome 5 Meckel syndrome, type 4 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Condition: not provided	Criteria Provided Conflicting Classifications	CA6711925	rs_181248369	4 SubmittersRCV000276958 RCV000863632 RCV001113143 RCV001114512 RCV001114513 RCV001113144 RCV001113145 RCV001697702
NM_020366.4(RPGRIP1):c.1753C>T (p.Pro585Ser)	SNV Germline	Chr14:21321995	Conflicting classifications of pathogenicity	Condition: not provided Cone-rod dystrophy 13 Leber congenital amaurosis 6 Leber congenital amaurosis 6 Cone-rod dystrophy 13 not specified Retinal dystrophy	Criteria Provided Conflicting Classifications	CA7089060	rs_147586703	11 SubmittersRCV000325954 RCV000763912 RCV001111169 RCV001800646 RCV002282101 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	not specified Cone-rod dystrophy 13 Leber congenital amaurosis 6 Cone-rod dystrophy 13 Leber congenital amaurosis 6 Condition: not provided RPGRIP1-related disorder Retinal dystrophy	Criteria Provided Conflicting Classifications	CA7089204	rs_145896974	11 SubmittersRCV000303580 RCV000339400 RCV000396376 RCV000641902 RCV001699333 RCV003920089 RCV004816497
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	Criteria Provided Conflicting Classifications	CA7088688	rs_186266220	5 SubmittersRCV000276671 RCV000322396 RCV000358467 RCV000959229 RCV003940004
NM_152443.3(RDH12):c.869T>G (p.Val290Gly)	SNV Germline	Chr14:67733766	Conflicting classifications of pathogenicity	Condition: not provided Leber congenital amaurosis 13 Retinal dystrophy not specified Leber congenital amaurosis	Criteria Provided Conflicting Classifications	CA7238874	rs_61740289	6 SubmittersRCV000293076 RCV001041798 RCV001075352 RCV003155148 RCV001277208
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 Leber congenital amaurosis 8 Retinitis pigmentosa 12 Retinal dystrophy CRB1-related disorder	Criteria Provided Conflicting Classifications	CA1312210	rs_114630940	5 SubmittersRCV000376545 RCV001275656 RCV001080703 RCV003888680 RCV004529472
NM_025114.4(CEP290):c.4437+1G>A	SNV Germline	Chr12:88086038	Pathogenic/Likely pathogenic	Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome Condition: not provided CEP290-related disorder Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA6711940	rs_760915898	9 SubmittersRCV000473837 RCV000498064 RCV000779117 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_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 Retinitis pigmentosa Condition: not provided Leber congenital amaurosis 8 Retinitis pigmentosa 12 Leber congenital amaurosis	Criteria Provided Conflicting Classifications	CA1312032	rs_144436610	7 SubmittersRCV000313740 RCV000363592 RCV000407701 RCV000585260 RCV001082136 RCV001833395
NM_201253.3(CRB1):c.2272A>T (p.Ser758Cys)	SNV Germline	Chr1:197427597	Conflicting classifications of pathogenicity	Condition: not provided Leber congenital amaurosis 8 Retinitis pigmentosa 12 Leber congenital amaurosis	Criteria Provided Conflicting Classifications	CA1312087	rs_201700675	3 SubmittersRCV000371225 RCV001067120 RCV001828271
NM_025114.4(CEP290):c.6645+1G>A	SNV Germline	Chr12:88059897	Conflicting classifications of pathogenicity	Joubert syndrome 5 Condition: not provided Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome Meckel syndrome, type 4 Senior-Loken syndrome 6 Meckel syndrome, type 4 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 Bardet-Biedl syndrome 14 CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6711459	rs_201218801	10 SubmittersRCV000454208 RCV000497486 RCV000801486 RCV001331377 RCV001833396 RCV002467720 RCV002522012 RCV003463776 RCV004537606
NM_201253.3(CRB1):c.1172-15T>A	SNV Germline	Chr1:197420985	Conflicting classifications of pathogenicity	Pigmented paravenous retinochoroidal atrophy Leber congenital amaurosis Retinitis Pigmentosa, Recessive Leber congenital amaurosis 8 Retinitis pigmentosa 12	Criteria Provided Conflicting Classifications	CA1311873	rs_375141011	2 SubmittersRCV000304813 RCV000336321 RCV000401040 RCV001491386
NM_201253.3(CRB1):c.2419C>T (p.Leu807=)	SNV Germline	Chr1:197427744	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	CA1312121	rs_371089348	2 SubmittersRCV000306210 RCV000359746 RCV000391747 RCV000951208
NM_201253.3(CRB1):c.3878+15A>T	SNV Germline	Chr1:197438690	Conflicting classifications of pathogenicity	Leber congenital amaurosis 8 Retinitis pigmentosa Leber congenital amaurosis 8 Retinitis pigmentosa 12 Pigmented paravenous retinochoroidal atrophy	Criteria Provided Conflicting Classifications	CA1312424	rs_200217112	2 SubmittersRCV000279430 RCV000336749 RCV001444410 RCV000400725
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 Retinitis pigmentosa Retinitis pigmentosa 12 Leber congenital amaurosis 8 Leber congenital amaurosis	Criteria Provided Conflicting Classifications	CA1312077	rs_140494140	3 SubmittersRCV000266368 RCV000360994 RCV001242513 RCV001828286
NM_201253.3(CRB1):c.2230C>A (p.Arg744=)	SNV Germline	Chr1:197427555	Conflicting classifications of pathogenicity	Retinitis pigmentosa Leber congenital amaurosis 8 Pigmented paravenous retinochoroidal atrophy not specified Retinal dystrophy Leber congenital amaurosis 8 Retinitis pigmentosa 12 Condition: not provided	Criteria Provided Conflicting Classifications	CA1312078	rs_150412614	6 SubmittersRCV000281831 RCV000317013 RCV000371666 RCV000418233 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 Retinitis pigmentosa Pigmented paravenous retinochoroidal atrophy Leber congenital amaurosis 8 Retinitis pigmentosa 12	Criteria Provided Conflicting Classifications	CA1312328	rs_116246250	2 SubmittersRCV000269228 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 Pigmented paravenous retinochoroidal atrophy Leber congenital amaurosis 8 Retinitis pigmentosa 12 Leber congenital amaurosis Retinitis pigmentosa 12 Retinal dystrophy CRB1-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA1311688	rs_114846212	8 SubmittersRCV000285066 RCV000347681 RCV000384124 RCV000945440 RCV001271894 RCV003454863 RCV003888696 RCV004537638 RCV004567846
NM_201253.3(CRB1):c.1752C>T (p.Asp584=)	SNV Germline	Chr1:197421580	Conflicting classifications of pathogenicity	Retinitis pigmentosa Leber congenital amaurosis 8 Pigmented paravenous retinochoroidal atrophy Leber congenital amaurosis Leber congenital amaurosis 8 Retinitis pigmentosa 12 Retinal dystrophy	Criteria Provided Conflicting Classifications	CA1311978	rs_750442312	4 SubmittersRCV000279892 RCV000334922 RCV000400239 RCV001833418 RCV000893286 RCV003888697
NM_201253.3(CRB1):c.2010T>C (p.Cys670=)	SNV Germline	Chr1:197421838	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	CA1312017	rs_201949837	2 SubmittersRCV000293851 RCV000348791 RCV000401010 RCV001435530
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 Leber congenital amaurosis 8 Retinitis pigmentosa 12 Retinitis pigmentosa Retinal dystrophy	Criteria Provided Conflicting Classifications	CA1312377	rs_142090517	3 SubmittersRCV000272687 RCV000320691 RCV000964610 RCV000377313 RCV003888699
NM_201253.3(CRB1):c.3750-3T>C	SNV Germline	Chr1:197438544	Conflicting classifications of pathogenicity	Retinitis pigmentosa Pigmented paravenous retinochoroidal atrophy Leber congenital amaurosis 8 Condition: not provided Leber congenital amaurosis 8 Retinitis pigmentosa 12	Criteria Provided Conflicting Classifications	CA1312396	rs_187937543	3 SubmittersRCV000285227 RCV000342421 RCV000371471 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	Criteria Provided Conflicting Classifications	CA2170027	rs_769501717	2 SubmittersRCV000395001 RCV001465808
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	Retinitis pigmentosa Leber congenital amaurosis 11 Condition: not provided IMPDH1-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4471065	rs_144659635	7 SubmittersRCV000347099 RCV000287544 RCV000521919 RCV004544684 RCV003168555
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 Klippel-Feil syndrome 1, autosomal dominant Microphthalmia, isolated, with coloboma 6 Leber congenital amaurosis 17 Isolated microphthalmia 4	Criteria Provided Conflicting Classifications	CA4815342	rs_140782427	4 SubmittersRCV001027714 RCV001044903
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	3 SubmittersRCV000260046 RCV000945780 RCV001272071
NM_001122769.3(LCA5):c.1097T>C (p.Leu366Ser)	SNV Germline	Chr6:79491589	Conflicting classifications of pathogenicity	Leber congenital amaurosis 5 Condition: not provided Leber congenital amaurosis Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3900944	rs_200988021	4 SubmittersRCV000393430 RCV000946289 RCV001272073 RCV002524508
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 not specified Retinitis pigmentosa Condition: not provided	Criteria Provided Conflicting Classifications	CA3901128	rs_200395970	5 SubmittersRCV000400678 RCV001553635 RCV001199700 RCV001861293
NM_000883.4(IMPDH1):c.1653C>T (p.His551=)	SNV Germline	Chr7:128394497	Conflicting classifications of pathogenicity	Leber congenital amaurosis 11 Retinitis pigmentosa Condition: not provided	Criteria Provided Conflicting Classifications	CA4470765	rs_147882304	2 SubmittersRCV000363032 RCV000396001 RCV001518880
NM_000883.4(IMPDH1):c.888C>T (p.Ile296=)	SNV Germline	Chr7:128398600	Conflicting classifications of pathogenicity	Retinitis pigmentosa Leber congenital amaurosis 11 Condition: not provided	Criteria Provided Conflicting Classifications	CA4470993	rs_72624957	2 SubmittersRCV000342291 RCV000381950 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 Inborn genetic diseases not specified Condition: not provided Klippel-Feil syndrome 1, autosomal dominant Microphthalmia, isolated, with coloboma 6 Isolated microphthalmia 4 Leber congenital amaurosis 17	Criteria Provided Conflicting Classifications	CA10631741	rs_886063208	5 SubmittersRCV000298662 RCV004022085 RCV004689724 RCV001200311 RCV001861334
NM_025114.4(CEP290):c.4087C>T (p.Arg1363Trp)	SNV Germline	Chr12:88087887	Conflicting classifications of pathogenicity	Senior-Loken syndrome 6 Meckel syndrome, type 4 Leber congenital amaurosis 10 Leber congenital amaurosis Joubert syndrome 5 Kidney disorder Bardet-Biedl syndrome 14 Retinal dystrophy CEP290-related disorder Condition: not provided Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome	Criteria Provided Conflicting Classifications	CA6712028	rs_181121175	8 SubmittersRCV000389733 RCV000345714 RCV000400374 RCV001273074 RCV000288370 RCV002294263 RCV000291084 RCV003888722 RCV004537751 RCV000548918 RCV001085312
NM_025114.4(CEP290):c.1549T>C (p.Leu517=)	SNV Germline	Chr12:88118717	Conflicting classifications of pathogenicity	Senior-Loken syndrome 6 Condition: not provided Meckel syndrome, type 4 Leber congenital amaurosis 10 Joubert syndrome 5 Bardet-Biedl syndrome 14 Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome	Criteria Provided Conflicting Classifications	CA6712526	rs_752942122	3 SubmittersRCV000360538 RCV000728042 RCV000305920 RCV000335728 RCV000398619 RCV000299546 RCV001079199
NM_025114.4(CEP290):c.-41C>T	SNV Germline	Chr12:88141913	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 not specified Leber congenital amaurosis 10 Joubert syndrome 5 Meckel syndrome, type 4 CEP290-related disorder	Criteria Provided Conflicting Classifications	CA10633653	rs_759820573	3 SubmittersRCV000281237 RCV000338378 RCV000422198 RCV000330322 RCV000372028 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 Cone-rod dystrophy 13 Leber congenital amaurosis 6	Criteria Provided Conflicting Classifications	CA7088724	rs_371762530	3 SubmittersRCV000329549 RCV000384076 RCV000983971
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 RCV000398658 RCV001513783
NM_152443.3(RDH12):c.570C>T (p.Ser190=)	SNV Germline	Chr14:67727102	Conflicting classifications of pathogenicity	Leber congenital amaurosis Leber congenital amaurosis 13 Retinitis pigmentosa Retinitis Pigmentosa, Recessive Retinal dystrophy	Criteria Provided Conflicting Classifications	CA7238750	rs_79869437	4 SubmittersRCV001275433 RCV000951682 RCV001109349 RCV000346851 RCV003888728
NM_152443.3(RDH12):c.701G>A (p.Arg234His)	SNV Germline	Chr14:67729233	Conflicting classifications of pathogenicity	Retinitis pigmentosa Macular dystrophy Leber congenital amaurosis 13 Leber congenital amaurosis Retinal dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA7238798	rs_750636662	9 SubmittersRCV000342637 RCV000993746 RCV001243727 RCV001833459 RCV003324525 RCV001753776
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	Senior-Loken syndrome 6 Meckel syndrome, type 4 Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome Bardet-Biedl syndrome 14 CEP290-related disorder Leber congenital amaurosis 10 Joubert syndrome 5	Criteria Provided Conflicting Classifications	CA6711281	rs_765709669	3 SubmittersRCV000339178 RCV000401265 RCV001410302 RCV000280658 RCV004537747 RCV000286608 RCV000378693
NM_025114.4(CEP290):c.7209+7T>G	SNV Germline	Chr12:88050347	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome Joubert syndrome 5 Senior-Loken syndrome 6 Condition: not provided Leber congenital amaurosis 10	Criteria Provided Conflicting Classifications	CA6711328	rs_745813087	3 SubmittersRCV000323734 RCV000270876 RCV001409432 RCV000322071 RCV000283328 RCV000729391 RCV000380635
NM_025114.4(CEP290):c.5764A>C (p.Ile1922Leu)	SNV Germline	Chr12:88071872	Conflicting classifications of pathogenicity	Joubert syndrome 5 not specified Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Leber congenital amaurosis 10 Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome	Criteria Provided Conflicting Classifications	CA6711648	rs_746949236	3 SubmittersRCV000391502 RCV000603796 RCV000339249 RCV000303118 RCV000398921 RCV000347524 RCV001341200
NM_025114.4(CEP290):c.3574-15T>A	SNV Germline	Chr12:88089502	Conflicting classifications of pathogenicity	Meckel syndrome, type 4 Senior-Loken syndrome 6 Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Joubert syndrome 5	Criteria Provided Conflicting Classifications	CA6712114	rs_565414938	2 SubmittersRCV000272452 RCV000267083 RCV001513375 RCV000378166 RCV000321121 RCV000324529
NM_025114.4(CEP290):c.2174A>C (p.Glu725Ala)	SNV Germline	Chr12:88111737	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 14 Joubert syndrome 5 Meckel syndrome, type 4 Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome Retinal dystrophy Joubert syndrome 5 Senior-Loken syndrome 6 Meckel syndrome, type 4 Leber congenital amaurosis 10 CEP290-related disorder Senior-Loken syndrome 6 Microcephaly Condition: not provided Leber congenital amaurosis 10	Criteria Provided Conflicting Classifications	CA6712389	rs_375038986	8 SubmittersRCV000371328 RCV000365084 RCV000307295 RCV000861492 RCV003888723 RCV002467728 RCV004732842 RCV000310425 RCV001252733 RCV001562789 RCV000400672
NM_025114.4(CEP290):c.54G>A (p.Leu18=)	SNV Germline	Chr12:88141254	Conflicting classifications of pathogenicity	Joubert syndrome 5 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome Meckel syndrome, type 4 Bardet-Biedl syndrome 14	Criteria Provided Conflicting Classifications	CA10638700	rs_886049885	2 SubmittersRCV000295236 RCV000352716 RCV000325527 RCV001421212 RCV000382505 RCV000386249
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 Condition: not provided Cone-rod dystrophy 13 Leber congenital amaurosis 6	Criteria Provided Conflicting Classifications	CA7088532	rs_201384449	4 SubmittersRCV000285535 RCV000345131 RCV000416234 RCV001079403
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.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 Leber congenital amaurosis 13 Retinal dystrophy Retinitis pigmentosa	Criteria Provided Conflicting Classifications	CA7238660	rs_552516182	4 SubmittersRCV000381378 RCV001850657 RCV003888726 RCV001109345
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 Inborn genetic diseases Leber congenital amaurosis 13 Retinitis pigmentosa	Criteria Provided Conflicting Classifications	CA7238787	rs_769317754	4 SubmittersRCV000302468 RCV001275436 RCV002520913 RCV000955105 RCV001111665
NM_018418.5(SPATA7):c.387G>A (p.Pro129=)	SNV Germline	Chr14:88426246	Conflicting classifications of pathogenicity	Retinitis pigmentosa Leber congenital amaurosis 3	Criteria Provided Conflicting Classifications	CA7298529	rs_199727517	2 SubmittersRCV000389308 RCV000952248
NM_025114.4(CEP290):c.7186G>T (p.Asp2396Tyr)	SNV Germline	Chr12:88050377	Conflicting classifications of pathogenicity	Joubert syndrome 5 Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome Bardet-Biedl syndrome 14 not specified Retinal dystrophy Leber congenital amaurosis 10 Senior-Loken syndrome 6 Leber congenital amaurosis Condition: not provided Meckel syndrome, type 4	Criteria Provided Conflicting Classifications	CA6711331	rs_189556433	7 SubmittersRCV000374397 RCV000465588 RCV000335271 RCV001700050 RCV003888721 RCV000282628 RCV000295385 RCV001276480 RCV001545810 RCV000400288
NM_025114.4(CEP290):c.5709+12A>G	SNV Germline	Chr12:88077210	Conflicting classifications of pathogenicity	Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome Senior-Loken syndrome 6 Joubert syndrome 5	Criteria Provided Conflicting Classifications	CA6711673	rs_371010287	2 SubmittersRCV000259439 RCV000300620 RCV000355216 RCV002056336 RCV000304102 RCV000354211
NM_025114.4(CEP290):c.4151G>A (p.Arg1384His)	SNV Germline	Chr12:88087823	Conflicting classifications of pathogenicity	Leber congenital amaurosis 10 Joubert syndrome 5 Meckel syndrome, type 4 Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome Senior-Loken syndrome 6 CEP290-related disorder not specified Bardet-Biedl syndrome 14 Leber congenital amaurosis	Criteria Provided Conflicting Classifications	CA6712022	rs_143152287	5 SubmittersRCV000268181 RCV000360821 RCV000303676 RCV001347081 RCV000316272 RCV004732840 RCV000603267 RCV000354663 RCV001273072
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 Nephronophthisis Meckel-Gruber syndrome Familial aplasia of the vermis Retinal dystrophy Condition: not provided Leber congenital amaurosis Retinitis pigmentosa Inborn genetic diseases CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6712084	rs_139998038	11 SubmittersRCV000276434 RCV000289191 RCV000327895 RCV000333827 RCV000381363 RCV000557002 RCV001074452 RCV001555535 RCV001273076 RCV001590930 RCV002520840 RCV004544543
NM_025114.4(CEP290):c.2616G>A (p.Ser872=)	SNV Germline	Chr12:88106876	Conflicting classifications of pathogenicity	Senior-Loken syndrome 6 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 not specified Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome Joubert syndrome 5 Leber congenital amaurosis 10 CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6712296	rs_776360559	4 SubmittersRCV000282243 RCV000394763 RCV000399710 RCV000605884 RCV001245594 RCV000337086 RCV000350122 RCV004544544
NM_025114.4(CEP290):c.1908A>T (p.Lys636Asn)	SNV Germline	Chr12:88115099	Conflicting classifications of pathogenicity	Leber congenital amaurosis 10 Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome Leber congenital amaurosis Bardet-Biedl syndrome 14 Joubert syndrome 5 Senior-Loken syndrome 6 Meckel syndrome, type 4 Leber congenital amaurosis 10 Condition: not provided Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5	Criteria Provided Conflicting Classifications	CA6712437	rs_199747962	5 SubmittersRCV000311480 RCV000860718 RCV001833458 RCV000351341 RCV002467729 RCV002461069 RCV000315150 RCV000390499 RCV000357069
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 Joubert syndrome 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA10642542	rs_139415563	2 SubmittersRCV000266217 RCV000309585 RCV000305052 RCV000357550 RCV000402356 RCV001642965
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 Cone-rod dystrophy 2 Leber congenital amaurosis 7	Criteria Provided Conflicting Classifications	CA10643083	rs_189556251	1 SubmittersRCV000307672 RCV000361147 RCV000401185
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	Leber congenital amaurosis 10 Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome Joubert syndrome 5 Bardet-Biedl syndrome 14 CEP290-related disorder Senior-Loken syndrome 6 Meckel syndrome, type 4	Criteria Provided Conflicting Classifications	CA6711985	rs_377614744	3 SubmittersRCV000376492 RCV000869776 RCV000328955 RCV000271533 RCV004537749 RCV000306869 RCV000363839
NM_025114.4(CEP290):c.1623+10G>T	SNV Germline	Chr12:88118633	Conflicting classifications of pathogenicity	Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome Meckel syndrome, type 4 Joubert syndrome 5	Criteria Provided Conflicting Classifications	CA6712516	rs_377529198	2 SubmittersRCV000327713 RCV000287480 RCV000272744 RCV000981128 RCV000376587 RCV000382304
NM_025114.4(CEP290):c.503G>A (p.Arg168His)	SNV Germline	Chr12:88130558	Conflicting classifications of pathogenicity	Joubert syndrome 5 Retinitis pigmentosa Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome Leber congenital amaurosis Senior-Loken syndrome 6 Meckel syndrome, type 4 not specified Retinal dystrophy Leber congenital amaurosis 10 CEP290-related disorder Bardet-Biedl syndrome 14	Criteria Provided Conflicting Classifications	CA6712768	rs_200063017	7 SubmittersRCV000263394 RCV000787814 RCV000637006 RCV001275046 RCV000373256 RCV000355828 RCV003330639 RCV003888725 RCV000316286 RCV004537752 RCV000285505
NM_020366.4(RPGRIP1):c.218+13C>G	SNV Germline	Chr14:21294822	Conflicting classifications of pathogenicity	Cone-rod dystrophy 13 Leber congenital amaurosis 6 not specified Cone-rod dystrophy 13 Leber congenital amaurosis 6 Condition: not provided	Criteria Provided Conflicting Classifications	CA7088596	rs_200225522	5 SubmittersRCV000291173 RCV000394793 RCV000425637 RCV001512676 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 Condition: not provided Cone-rod dystrophy 13 Leber congenital amaurosis 6	Criteria Provided Conflicting Classifications	CA7088903	rs_372186092	3 SubmittersRCV000300508 RCV000355383 RCV000761864 RCV001088261
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 Cone-rod dystrophy 13 Leber congenital amaurosis 6	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 Retinitis pigmentosa Cone-rod dystrophy 2 Leber congenital amaurosis 7 Retinal dystrophy	Criteria Provided Conflicting Classifications	CA9544368	rs_139340178	7 SubmittersRCV000280624 RCV000401704 RCV000878021 RCV000787830 RCV001087610 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 Retinitis Pigmentosa, Dominant Leber congenital amaurosis 4	Criteria Provided Conflicting Classifications	CA10650670	rs_145706166	1 SubmittersRCV000280028 RCV000351354 RCV000372318
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 Leber congenital amaurosis 4 Retinal dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA8328414	rs_138585919	4 SubmittersRCV000332251 RCV000385713 RCV000981801 RCV001075005 RCV003456394
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 Retinitis pigmentosa Cone-rod dystrophy 2	Criteria Provided Conflicting Classifications	CA10652624	rs_543729483	1 SubmittersRCV000293631 RCV000348576 RCV000401350
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 Leber congenital amaurosis 8 Retinitis pigmentosa 12 Retinitis pigmentosa 12 Condition: not provided Pigmented paravenous retinochoroidal atrophy CRB1-related disorder Leber congenital amaurosis 8	Criteria Provided Multiple Submitters No Conflicts	CA1312130	rs_116471343	11 SubmittersRCV000414087 RCV000986491 RCV001073689 RCV001064315 RCV001376383 RCV001810876 RCV003137989 RCV004739713 RCV003475999
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 Meckel-Gruber syndrome Familial aplasia of the vermis Nephronophthisis not specified Leber congenital amaurosis 10 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA6712782	rs_757641323	7 SubmittersRCV000414162 RCV000552078 RCV000999862 RCV002470852 RCV003463818
NM_000329.3(RPE65):c.1338+1G>A	SNV Germline	Chr1:68431281	Pathogenic	Abnormality of vision Abnormal electroretinogram Congenital blindness Retinal degeneration Leber congenital amaurosis 2 Retinitis pigmentosa 20 Retinitis pigmentosa 20 Leber congenital amaurosis 2 Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA16043370	rs_1057518922	4 SubmittersRCV000415360 RCV001066256 RCV001198362 RCV003470368 RCV004816644
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_000180.4(GUCY2D):c.1315G>A (p.Gly439Arg)	SNV Germline	Chr17:8006651	Conflicting classifications of pathogenicity	Abnormal electroretinogram Nystagmus Condition: not provided Cone-rod dystrophy 6 Leber congenital amaurosis 1 Choroidal dystrophy, central areolar, 1 GUCY2D-related disorder	Criteria Provided Conflicting Classifications	CA8365708	rs_140638938	4 SubmittersRCV000415352 RCV000487886 RCV001078961 RCV001198299 RCV004748751
NM_000329.3(RPE65):c.130C>T (p.Arg44Ter)	SNV Germline	Chr1:68446825	Pathogenic	Condition: not provided Leber congenital amaurosis 2 Retinitis pigmentosa 20 Retinitis pigmentosa RPE65-related disorder Leber congenital amaurosis RPE65-related recessive retinopathy Leber congenital amaurosis 2 Retinal dystrophy	Reviewed By Expert Panel	CA902588	rs_368088025	13 SubmittersRCV000416243 RCV000528380 RCV000787883 RCV001249416 RCV001275339 RCV002466496 RCV003470371 RCV003889879
NM_020366.4(RPGRIP1):c.268G>A (p.Val90Ile)	SNV Germline	Chr14:21301015	Conflicting classifications of pathogenicity	Condition: not provided Leber congenital amaurosis 6 Cone-rod dystrophy 13 Cone-rod dystrophy 13 Leber congenital amaurosis 6 Retinal dystrophy Cone dystrophy	Criteria Provided Conflicting Classifications	CA16043847	rs_1057519200	5 SubmittersRCV000415874 RCV001800663 RCV001800664 RCV001359271 RCV004816650 RCV001199770
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 Leber congenital amaurosis 8 Retinitis pigmentosa 12 Inborn genetic diseases Leber congenital amaurosis Leber congenital amaurosis 8	Criteria Provided Conflicting Classifications	CA1312198	rs_140648074	6 SubmittersRCV000415891 RCV001270085 RCV001563885 RCV001242512 RCV002521478 RCV001828390 RCV001563884
NM_025114.4(CEP290):c.523C>A (p.Gln175Lys)	SNV Germline	Chr12:88130414	Conflicting classifications of pathogenicity	Condition: not provided Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Senior-Loken syndrome 6 Leber congenital amaurosis 10 Joubert syndrome 5 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Intellectual disability Leber congenital amaurosis CEP290-related disorder Retinal dystrophy	Criteria Provided Conflicting Classifications	CA6712745	rs_202159966	8 SubmittersRCV000428640 RCV000809280 RCV001109868 RCV001109869 RCV001109866 RCV001109867 RCV001110658 RCV001252443 RCV001275045 RCV004530521 RCV004816652
NM_025114.4(CEP290):c.6629G>A (p.Arg2210His)	SNV Germline	Chr12:88059914	Conflicting classifications of pathogenicity	Condition: not provided Meckel syndrome, type 4 Joubert syndrome 5 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Leber congenital amaurosis Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Retinal dystrophy	Criteria Provided Conflicting Classifications	CA6711461	rs_371833544	6 SubmittersRCV000417476 RCV000765111 RCV001276484 RCV001245037 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 Meckel-Gruber syndrome Nephronophthisis Familial aplasia of the vermis 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	not specified Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Leber congenital amaurosis 10 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Joubert syndrome 5 Meckel syndrome, type 4 Condition: not provided	Criteria Provided Conflicting Classifications	CA6712563	rs_200328638	4 SubmittersRCV000441785 RCV000474649 RCV001112008 RCV001112451 RCV001112007 RCV001112009 RCV001112452 RCV002510886
NM_020366.4(RPGRIP1):c.930+3A>G	SNV Germline	Chr14:21310610	Conflicting classifications of pathogenicity	not specified Condition: not provided Leber congenital amaurosis 6 Cone-rod dystrophy 13 Leber congenital amaurosis 6 Cone-rod dystrophy 13 RPGRIP1-related disorder	Criteria Provided Conflicting Classifications	CA7088791	rs_150107283	6 SubmittersRCV000417812 RCV000585329 RCV001113069 RCV001083158 RCV001113068 RCV003932581
NM_025114.4(CEP290):c.1729C>T (p.Leu577=)	SNV Germline	Chr12:88117128	Conflicting classifications of pathogenicity	Condition: not provided Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel-Gruber syndrome Familial aplasia of the vermis Nephronophthisis	Criteria Provided Conflicting Classifications	CA6712482	rs_201295052	8 SubmittersRCV000733432 RCV001109606 RCV001109607 RCV001109608 RCV001111898 RCV001111899 RCV001084047
NM_020366.4(RPGRIP1):c.3565C>T (p.Arg1189Ter)	SNV Germline	Chr14:21345145	Pathogenic	Condition: not provided Cone-rod dystrophy 13 Leber congenital amaurosis 6 Leber congenital amaurosis 6 Cone-rod dystrophy 13	Criteria Provided Multiple Submitters No Conflicts	CA7089550	rs_752175052	6 SubmittersRCV000428349 RCV001387165 RCV001261193 RCV001800668
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_025114.4(CEP290):c.4705-1G>T	SNV Germline	Chr12:88083955	Pathogenic/Likely pathogenic	Condition: not provided Familial aplasia of the vermis Meckel-Gruber syndrome Nephronophthisis Joubert syndrome 5 Leber congenital amaurosis CEP290-related disorder Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA6711875	rs_777464278	5 SubmittersRCV000479832 RCV001060437 RCV001335139 RCV003324527 RCV004527588 RCV003470556
NM_018418.5(SPATA7):c.923G>A (p.Cys308Tyr)	SNV Germline	Chr14:88429358	Conflicting classifications of pathogenicity	Condition: not provided Leber congenital amaurosis 3	Criteria Provided Conflicting Classifications	CA7298651	rs_138190453	2 SubmittersRCV000481403 RCV001085427
NM_018418.5(SPATA7):c.1238A>G (p.His413Arg)	SNV Germline	Chr14:88437860	Conflicting classifications of pathogenicity	Condition: not provided Leber congenital amaurosis 3	Criteria Provided Conflicting Classifications	CA7298781	rs_149478294	2 SubmittersRCV000486342 RCV001085445
NM_201253.3(CRB1):c.481G>A (p.Ala161Thr)	SNV Germline	Chr1:197328832	Conflicting classifications of pathogenicity	Condition: not provided Retinitis pigmentosa 12 Retinitis pigmentosa 12 Leber congenital amaurosis 8	Criteria Provided Conflicting Classifications	CA16621582	rs_1064797126	3 SubmittersRCV000488223 RCV001591128 RCV001072005
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 6 Leber congenital amaurosis Cone-rod dystrophy 13	Criteria Provided Multiple Submitters No Conflicts	CA16621652	rs_1064797182	3 SubmittersRCV000487634 RCV001800703 RCV001199768 RCV001800704
NM_014336.5(AIPL1):c.140C>G (p.Thr47Arg)	SNV Germline	Chr17:6434055	Conflicting classifications of pathogenicity	Condition: not provided Leber congenital amaurosis 4 not specified	Criteria Provided Conflicting Classifications	CA8328611	rs_150656720	5 SubmittersRCV000488128 RCV001081379 RCV001700132
NM_000180.4(GUCY2D):c.2122T>C (p.Trp708Arg)	SNV Germline	Chr17:8013111	Conflicting classifications of pathogenicity	Condition: not provided Cone-rod dystrophy 6 Leber congenital amaurosis 1	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 Retinal dystrophy Cone-rod dystrophy 2 Leber congenital amaurosis 7	Criteria Provided Multiple Submitters No Conflicts	CA16621743	rs_1064797247	3 SubmittersRCV000487650 RCV001073867 RCV001865500
NM_000283.4(PDE6B):c.886G>T (p.Glu296Ter)	SNV Germline	Chr4:654113	Pathogenic/Likely pathogenic	Condition: not provided Retinitis pigmentosa 40 Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA16621814	rs_1064797304	2 SubmittersRCV000488380 RCV001293398 RCV001199718
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	4 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 Retinitis pigmentosa 12 Leber congenital amaurosis 8	Criteria Provided Multiple Submitters No Conflicts	CA344037829	rs_1085307972	4 SubmittersRCV000488946 RCV001834593 RCV001851320 RCV003449262 RCV003449263
NM_201253.3(CRB1):c.2842T>C (p.Cys948Arg)	SNV Germline	Chr1:197429614	Pathogenic	Leber congenital amaurosis Leber congenital amaurosis 1 Leber congenital amaurosis 8 Retinitis pigmentosa 12 Leber congenital amaurosis 8 Pigmented paravenous retinochoroidal atrophy Retinitis pigmentosa 12 Retinal dystrophy CRB1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA344041407	rs_62645747	8 SubmittersRCV000515691 RCV000986493 RCV001250609 RCV001389640 RCV001836643 RCV003449270 RCV003987563 RCV004740266
NM_000329.3(RPE65):c.1338G>T (p.Arg446Ser)	SNV Germline	Chr1:68431282	Pathogenic	Leber congenital amaurosis Leber congenital amaurosis 2 Retinitis pigmentosa 20 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 Leber congenital amaurosis 2 Leber congenital amaurosis 2 Retinitis pigmentosa 20 RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA418279061	rs_1553152989	6 SubmittersRCV000515747 RCV002248718 RCV001865522 RCV004527377
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 Bardet-Biedl syndrome 14 Meckel syndrome, type 4	Criteria Provided Multiple Submitters No Conflicts	CA658656314	rs_1555220638	3 SubmittersRCV000515679 RCV003470596 RCV004800425
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	Condition: not provided Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome Retinal dystrophy Leber congenital amaurosis Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Meckel syndrome, type 4 Joubert syndrome 5 Joubert syndrome 5 CEP290-related disorder Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA6711850	rs_369523378	11 SubmittersRCV000498458 RCV000687629 RCV001075395 RCV001271569 RCV001535842 RCV002248731 RCV002222534 RCV003464071
NM_201253.3(CRB1):c.1183G>T (p.Glu395Ter)	SNV Germline	Chr1:197421011	Conflicting classifications of pathogenicity	Leber congenital amaurosis Retinal dystrophy Leber congenital amaurosis 8 Retinitis pigmentosa 12 Leber congenital amaurosis 8 CRB1-related disorder	Criteria Provided Conflicting Classifications	CA35893184	rs_369775002	5 SubmittersRCV000505025 RCV001074835 RCV001390794 RCV003476197 RCV004527614
NM_201253.3(CRB1):c.2129A>T (p.Glu710Val)	SNV Germline	Chr1:197427454	Pathogenic/Likely pathogenic	Retinal dystrophy Retinitis pigmentosa 12 Leber congenital amaurosis 8 Leber congenital amaurosis Condition: not provided Retinitis pigmentosa 12 Leber congenital amaurosis 8 Pigmented paravenous retinochoroidal atrophy	Criteria Provided Multiple Submitters No Conflicts	CA1312059	rs_145282040	8 SubmittersRCV000504865 RCV001053730 RCV001275649 RCV001783005 RCV003449433 RCV003449434 RCV003449435
NM_201253.3(CRB1):c.2639A>G (p.Asn880Ser)	SNV Germline	Chr1:197427964	Conflicting classifications of pathogenicity	Retinitis pigmentosa Retinitis pigmentosa 12 Leber congenital amaurosis 8 Retinitis pigmentosa 12 Leber congenital amaurosis Leber congenital amaurosis 8	Criteria Provided Conflicting Classifications	CA35901203	rs_910489135	5 SubmittersRCV000504944 RCV001067848 RCV001376401 RCV001834627 RCV003476198
NM_201253.3(CRB1):c.2842+5G>A	SNV Germline	Chr1:197429619	Pathogenic/Likely pathogenic	Retinal dystrophy Leber congenital amaurosis 8 Condition: not provided Leber congenital amaurosis 8 Retinitis pigmentosa 12 Retinitis pigmentosa 12	Criteria Provided Multiple Submitters No Conflicts	CA1312221	rs_773914330	7 SubmittersRCV000504958 RCV001250645 RCV001310547 RCV001857211 RCV003446102
NM_201253.3(CRB1):c.3676G>T (p.Gly1226Ter)	SNV Germline	Chr1:197435539	Pathogenic	Retinitis pigmentosa Retinitis pigmentosa 12 Leber congenital amaurosis 8 Leber congenital amaurosis Pigmented paravenous retinochoroidal atrophy Retinitis pigmentosa 12 Leber congenital amaurosis 8	Criteria Provided Multiple Submitters No Conflicts	CA1312374	rs_757740068	6 SubmittersRCV000504976 RCV001064730 RCV001275659 RCV003449440 RCV003228798 RCV003449439
NM_000329.3(RPE65):c.74C>T (p.Pro25Leu)	SNV Germline	Chr1:68448644	Pathogenic	Retinal dystrophy Leber congenital amaurosis 2 Retinitis pigmentosa 20 Leber congenital amaurosis 2 Retinitis pigmentosa Leber congenital amaurosis Retinitis pigmentosa 20 Leber congenital amaurosis 2 Retinitis pigmentosa 87 with choroidal involvement RPE65-related recessive retinopathy	Reviewed By Expert Panel	CA902628	rs_199683808	10 SubmittersRCV000504723 RCV001250673 RCV001377674 RCV001724032 RCV001834621 RCV002496962 RCV004527379
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.835C>T (p.Gln279Ter)

SNV
Germline

Chr6:79493636

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA204615

rs_121918165

15 SubmittersRCV000001019 RCV001003073 RCV000812173 RCV000190663 RCV001073263

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

SNV
Germline

Chr12:88077263

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA150917

rs_137852832

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

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

SNV
Germline

Chr12:88141287

Pathogenic

Joubert syndrome 5
Condition: not provided
Leber congenital amaurosis
Nephronophthisis
Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA227962

rs_62635288

6 SubmittersRCV000001398 RCV000086283 RCV000505111 RCV001328051 RCV001851540

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

SNV
Germline

Chr12:88101183

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227965

rs_281865192

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

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

SNV
Germline

Chr12:88111320

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA251751

rs_137852834

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

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

SNV
Germline

Chr12:88130324

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA114937

rs_137852835

10 SubmittersRCV000001407 RCV001257362 RCV001274134 RCV001042869 RCV001376372 RCV001781163 RCV003466779 RCV002496228 RCV003887847 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

10 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
Retinal dystrophy
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA339895

rs_75895925

9 SubmittersRCV000001462 RCV001291573 RCV002260581 RCV003887848 RCV003485517

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

13 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
Leber congenital amaurosis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA252081

rs_104894471

17 SubmittersRCV000002131 RCV001075533 RCV001254729 RCV001567801

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
Retinitis pigmentosa
Retinal dystrophy
Condition: not provided
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA252088

rs_28940315

19 SubmittersRCV000002136 RCV000993758 RCV001075855 RCV000594844 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

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

11 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
Retinal dystrophy
Leber congenital amaurosis 13
Condition: not provided
Retinitis pigmentosa
Leber congenital amaurosis
RDH12-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA115315

rs_202126574

10 SubmittersRCV000002142 RCV001073666 RCV001223788 RCV001558134 RCV000132691 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

28 SubmittersRCV000005906 RCV000086235 RCV000365317 RCV000505017 RCV001074840 RCV002496274 RCV004786238

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

SNV
Germline

Chr17:6426684

Pathogenic

Leber congenital amaurosis 4
Condition: not provided
Leber congenital amaurosis

Criteria Provided
Single Submitter

CA227892

rs_62637012

5 SubmittersRCV000005908 RCV000086231 RCV004585988

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

SNV
Germline

Chr1:197434985

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA228031

rs_62635656

10 SubmittersRCV000006084 RCV000086336 RCV001045972 RCV001250615 RCV001075294 RCV004528086 RCV003450614

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

SNV
Germline

Chr1:197427615

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA228006

rs_62635654

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA228003

rs_28939720

24 SubmittersRCV000006087 RCV000086315 RCV000809110 RCV000787576 RCV001250601 RCV001257864 RCV001826422 RCV002496280 RCV001074789 RCV001196030

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

Criteria Provided
Multiple Submitters
No Conflicts

CA203531

rs_137853137

16 SubmittersRCV000006090 RCV000787826 RCV001275651 RCV002504753 RCV003450616 RCV004739293 RCV000578757 RCV000787578 RCV000691427 RCV001250606

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
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Early-onset retinal dystrophy
Leber congenital amaurosis
Retinal dystrophy
Pigmented paravenous retinochoroidal atrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA117711

rs_62636275

14 SubmittersRCV000006093 RCV000006094 RCV000086341 RCV000648818 RCV000786009 RCV001002998 RCV001073404 RCV003450617

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_000554.6(CRX):c.239A>C (p.Glu80Ala)

SNV
Germline

Chr19:47836381

Pathogenic

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA118790

rs_104894672

12 SubmittersRCV000007843 RCV000085989 RCV001073396 RCV001386169 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

Criteria Provided
Multiple Submitters
No Conflicts

CA118791

rs_61748436

8 SubmittersRCV000007846 RCV000085990 RCV001059718 RCV001075469 RCV004755718

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
Heimler syndrome 1
Peroxisome biogenesis disorder 1A (Zellweger)
Peroxisome biogenesis disorder 1B
Peroxisomal disorder
Peroxisome biogenesis disorder 1A (Zellweger)
Peroxisome biogenesis disorder 1B
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

40 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
Cone-rod dystrophy 3
Retinitis pigmentosa 19
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Stargardt disease
Retinitis pigmentosa 19
ABCA4-related retinopathy
Leber congenital amaurosis 14
ABCA4-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA119140

rs_61751383

20 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
Congenital anomaly of kidney and urinary tract
Klippel-Feil syndrome 1, autosomal dominant
Congenital anomaly of kidney and urinary tract
Microphthalmia, isolated, with coloboma 6
Leber congenital amaurosis 17
Isolated microphthalmia 4
Klippel-Feil syndrome 1, autosomal dominant
GDF6-related disorder
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA119555

rs_121909352

11 SubmittersRCV000008876 RCV000008877 RCV000054424 RCV000353571 RCV000428033 RCV000767010 RCV001255226 RCV001255227 RCV001522988 RCV003934812 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
Leber congenital amaurosis 17
Microphthalmia, isolated, with coloboma 6
Isolated microphthalmia 4
Klippel-Feil syndrome 1, autosomal dominant
GDF6-related disorder

Criteria Provided
Conflicting Classifications

CA119556

rs_63751220

4 SubmittersRCV000008878 RCV000255695 RCV001399723 RCV003952350

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

Criteria Provided
Conflicting Classifications

CA119557

rs_121909353

5 SubmittersRCV000008879 RCV000287766 RCV000984889 RCV001429590 RCV003152588

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

SNV
Germline

Chr17:8009531

Pathogenic

Leber congenital amaurosis 1
Condition: not provided

No Assertion Criteria Provided

CA226054

rs_61749755

3 SubmittersRCV000009944 RCV000084839

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
Leber congenital amaurosis 1
Cone-rod dystrophy 6
Retinal dystrophy
Choroidal dystrophy, central areolar, 1
Leber congenital amaurosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA226085

rs_61750172

16 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)
Cone dystrophy
Cone-rod dystrophy 6
Leber congenital amaurosis 1
Retinitis pigmentosa
Visual impairment
Macular dystrophy
Cone-rod dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA226086

rs_61750173

20 SubmittersRCV000009951 RCV000084863 RCV000504851 RCV000787614 RCV001003043 RCV001228516 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
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis
RPE65-related recessive retinopathy
Retinal dystrophy

Reviewed By Expert Panel

CA226577

rs_61752895

9 SubmittersRCV000013993 RCV000085219 RCV001376448 RCV001236263 RCV001831567 RCV003460467 RCV004794340

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

SNV
Germline

Chr1:68444858

Pathogenic

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

Reviewed By Expert Panel

CA226531

rs_61752871

20 SubmittersRCV000013994 RCV000085184 RCV000527143 RCV000787698 RCV001095690 RCV001250682 RCV001257818 RCV001813981 RCV001073556 RCV001275337 RCV004595852

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
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA226509

rs_62637004

6 SubmittersRCV000013995 RCV000085169 RCV001304649 RCV003114190 RCV004801914

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

SNV
Germline

Chr1:68438228

Pathogenic

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

Reviewed By Expert Panel

CA256730

rs_121917744

8 SubmittersRCV000013996 RCV001250693 RCV000815732 RCV001826460 RCV003460468

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

SNV
Germline

Chr1:68438293

Pathogenic

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

Reviewed By Expert Panel

CA226472

rs_61752909

15 SubmittersRCV000013997 RCV000085141 RCV000986328 RCV001047062 RCV001831568 RCV002496352 RCV004814898 RCV003764564

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

Reviewed By Expert Panel

CA226519

rs_121917745

11 SubmittersRCV000013999 RCV000014000 RCV000085176 RCV000132583 RCV000816506 RCV001826461 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

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

Criteria Provided
Single Submitter

CA226083

rs_61750172

2 SubmittersRCV001854486 RCV000084861

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

SNV
Germline

Chr1:68438213

Pathogenic

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

Reviewed By Expert Panel

CA226484

rs_62653011

15 SubmittersRCV000022749 RCV000022750 RCV000085150 RCV000348257 RCV000787920 RCV001054423 RCV001275328 RCV003764626 RCV004814916

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

SNV
Germline

Chr1:68439033

Pathogenic

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

Reviewed By Expert Panel

CA226589

rs_61752904

7 SubmittersRCV000022753 RCV000085231 RCV002490403 RCV002513174 RCV003764627

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

SNV
Germline

Chr1:68431328

Likely pathogenic

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

Reviewed By Expert Panel

CA226500

rs_62636300

8 SubmittersRCV000022754 RCV000085161 RCV001054426 RCV003764628 RCV003317042 RCV004732553

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA259774

rs_387906836

5 SubmittersRCV000852373 RCV000023188 RCV004814918 RCV003556074

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

SNV
Germline

Chr6:35505751

Pathogenic/Likely pathogenic

Condition: not provided
Leber congenital amaurosis 15
Retinal dystrophy
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA259775

rs_387906837

5 SubmittersRCV001857359 RCV000023189 RCV004814919 RCV004586021

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
Nephronophthisis
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA129461

rs_387907009

6 SubmittersRCV000023758 RCV000462160 RCV000504719

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

SNV
Germline

Chr14:88416725

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA259907

rs_140287375

10 SubmittersRCV000023791 RCV001075501 RCV002260600 RCV000778417 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

Leber congenital amaurosis 9
Condition: not provided
Leber congenital amaurosis
7 conditions
Retinal dystrophy
Inborn genetic diseases
NMNAT1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA342906

rs_150726175

16 SubmittersRCV000030765 RCV000255806 RCV000504859 RCV001003567 RCV001075816 RCV004639123 RCV004757953

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
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa
Retinal dystrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
CRB1-related disorder
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis
Cone dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA228022

rs_62645748

29 SubmittersRCV000032814 RCV000032815 RCV000086331 RCV000554663 RCV000787579 RCV000505155 RCV000762874 RCV003313928 RCV001097540 RCV001275657 RCV003324500

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

SNV
Germline

Chr17:58210980

Pathogenic/Likely pathogenic

Meckel syndrome, type 1
Meckel syndrome, type 1
Leber congenital amaurosis 6
Condition: not provided
Meckel-Gruber syndrome
Familial aplasia of the vermis
Bardet-Biedl syndrome 13

Criteria Provided
Multiple Submitters
No Conflicts

CA344764

rs_386834053

6 SubmittersRCV000050040 RCV000735871 RCV000735097 RCV001853066 RCV003474638

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

SNV
Germline

Chr12:88114488

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA144389

rs_386834152

11 SubmittersRCV000050146 RCV000201755 RCV000685655 RCV000787812 RCV000787559 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
Meckel-Gruber syndrome
Nephronophthisis
Familial aplasia of the vermis
Leber congenital amaurosis
Bardet-Biedl syndrome 14
Joubert syndrome 5
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA144391

rs_386834153

9 SubmittersRCV000050147 RCV001091341 RCV001053674 RCV001274137 RCV003466923 RCV004760362 RCV004814991

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

Criteria Provided
Conflicting Classifications

CA210821

rs_397514725

5 SubmittersRCV000054426 RCV001337031 RCV001753472 RCV001853075 RCV004757958

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

SNV
Germline

Chr17:6426934

Pathogenic

Leber congenital amaurosis 4
Condition: not provided

No Assertion Criteria Provided

CA227886

rs_62637010

3 SubmittersRCV000055939 RCV000086228

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227897

rs_142326926

5 SubmittersRCV000055941 RCV000086234 RCV004732645

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
Leber congenital amaurosis 8
Retinitis pigmentosa 12
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

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

Criteria Provided
Conflicting Classifications

CA223111

rs_144822294

5 SubmittersRCV001125500 RCV001125501 RCV004732656 RCV004815007 RCV000081612

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

SNV
Germline

Chr17:6433928

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA223113

rs_62653020

9 SubmittersRCV000259077 RCV000345097 RCV000306547 RCV001080955 RCV004815008 RCV000081613

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

SNV
Germline

Chr17:6427007

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA223115

rs_62637017

10 SubmittersRCV000311702 RCV000371077 RCV001001388 RCV001086330 RCV004542792 RCV004815009 RCV000081614

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

SNV
Germline

Chr14:88426588

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA223536

rs_151338404

6 SubmittersRCV000327877 RCV000952079 RCV001699118 RCV000081956

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

SNV
Germline

Chr14:21326018

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA223562

rs_181758389

6 SubmittersRCV001002311 RCV001111274 RCV001111273 RCV001513784 RCV004815013 RCV004815014 RCV000082000

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
Leber congenital amaurosis 6
Cone-rod dystrophy 13

Criteria Provided
Multiple Submitters
No Conflicts

CA223564

rs_398124354

4 SubmittersRCV000082001 RCV000710048 RCV001800386 RCV001857395 RCV001800387

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

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

Criteria Provided
Conflicting Classifications

CA149314

rs_183655276

11 SubmittersRCV000307654 RCV000351974 RCV000402012 RCV000366483 RCV000408211 RCV000442189 RCV001082252 RCV001273070 RCV004528298 RCV000082249

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

SNV
Germline

Chr17:8006388

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA226036

rs_61749676

4 SubmittersRCV000084827 RCV001250829 RCV001377421 RCV003398694

NM_000180.4(GUCY2D):c.1236C>T (p.Asp412=)

SNV
Germline

Chr17:8006572

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA226041

rs_61749678

6 SubmittersRCV001087384 RCV001705813 RCV000084830

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

SNV
Germline

Chr17:8006679

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA226043

rs_61749679

7 SubmittersRCV000084831 RCV000989737 RCV001037164 RCV001250830 RCV004815022

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

SNV
Germline

Chr17:8007499

Conflicting classifications of pathogenicity

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

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA226062

rs_61750161

4 SubmittersRCV001047937 RCV001250870 RCV004815024 RCV000084847

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

SNV
Germline

Chr17:8013918

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA226075

rs_61750168

15 SubmittersRCV000543628 RCV000850093 RCV001075745 RCV000787613 RCV000850094 RCV002477250 RCV004748575 RCV000084856

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

Criteria Provided
Conflicting Classifications

CA226103

rs_61750182

3 SubmittersRCV000084873 RCV001075835 RCV002514512

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

SNV
Germline

Chr17:8015781

Likely pathogenic

Condition: not provided
Leber congenital amaurosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA226112

rs_61750187

4 SubmittersRCV000084879 RCV001250866

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

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA226122

rs_61749668

9 SubmittersRCV000084885 RCV000505073 RCV001053255 RCV001250822 RCV004689453

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

SNV
Germline

Chr17:8016001

Pathogenic

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

Criteria Provided
Single Submitter

CA226130

rs_61750194

3 SubmittersRCV000084889 RCV001250858 RCV002514513

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

No Assertion Criteria Provided

CA226144

rs_281865409

2 SubmittersRCV000084898 RCV001250813

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

SNV
Germline

Chr17:8003050

Pathogenic

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

Criteria Provided
Single Submitter

CA226146

rs_281865409

3 SubmittersRCV000084899 RCV001250812 RCV001388964

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

SNV
Germline

Chr17:8004065

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA226155

rs_61749673

5 SubmittersRCV000084906 RCV001250818 RCV003764783

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

SNV
Germline

Chr6:42704556

Pathogenic

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

Criteria Provided
Single Submitter

CA174960

rs_61755802

4 SubmittersRCV000085002 RCV000149469 RCV000149468 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
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Retinal dystrophy
Retinitis pigmentosa 20
Leber congenital amaurosis
Retinitis pigmentosa 20
Retinitis pigmentosa 87 with choroidal involvement
Leber congenital amaurosis 2
RPE65-related recessive retinopathy
RPE65-related disorder
Inborn genetic diseases

Reviewed By Expert Panel

CA226483

rs_61751276

24 SubmittersRCV000022752 RCV000085149 RCV000524808 RCV000505050 RCV000678614 RCV001275342 RCV002498448 RCV003460766 RCV004732661 RCV004955275

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

SNV
Germline

Chr1:68446837

Pathogenic

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

Reviewed By Expert Panel

CA226491

rs_61751281

10 SubmittersRCV001074416 RCV001047503 RCV001250675 RCV001275340 RCV002498450 RCV004527312 RCV000085155 RCV000132582

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
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis 2
RPE65-related recessive retinopathy
Leber congenital amaurosis
Inborn genetic diseases

Reviewed By Expert Panel

CA226499

rs_62636299

7 SubmittersRCV000085160 RCV001074061 RCV001323215 RCV003466997 RCV003764786 RCV004767068 RCV004955276

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

SNV
Germline

Chr1:68446824

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA226506

rs_61751282

8 SubmittersRCV000085166 RCV000701390 RCV001257816 RCV001250676 RCV001275338 RCV001808321 RCV004528783

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
Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA226513

rs_62637006

6 SubmittersRCV000085172 RCV001250694 RCV001376503 RCV002513922

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

Reviewed By Expert Panel

CA226517

rs_62653015

10 SubmittersRCV000085175 RCV001250703 RCV001854497 RCV001826773 RCV003764788

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

SNV
Unknown

Chr1:68446753

Likely pathogenic

Condition: not provided
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

CA226523

rs_61752866

2 SubmittersRCV000085179 RCV003466999

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

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

Reviewed By Expert Panel

CA226533

rs_61752873

10 SubmittersRCV001061074 RCV001275336 RCV001731373 RCV002247485 RCV003242980 RCV003764791 RCV004815048 RCV000085186

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

SNV
Germline

Chr1:68444857

Likely pathogenic

Condition: not provided
Leber congenital amaurosis 2

No Assertion Criteria Provided

CA226534

rs_61752873

2 SubmittersRCV000085187 RCV001250683

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

SNV
Germline

Chr1:68449904

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA226537

rs_281865285

4 SubmittersRCV000085190 RCV001376504 RCV001377675 RCV004815049

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

SNV
Germline

Chr1:68444825

Pathogenic

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

Reviewed By Expert Panel

CA226540

rs_62642584

11 SubmittersRCV000085192 RCV000763389 RCV001249229 RCV001275333 RCV003764793 RCV003467000 RCV004815050

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

SNV
Germline

Chr1:68444818

Likely pathogenic

Condition: not provided
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

CA226542

rs_61752875

2 SubmittersRCV000085193 RCV001588914

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
Leber congenital amaurosis
Retinitis pigmentosa 20
Retinitis pigmentosa 87 with choroidal involvement
Leber congenital amaurosis 2
Inborn genetic diseases
Retinal dystrophy
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA226545

rs_61752877

13 SubmittersRCV000085195 RCV000538669 RCV000986332 RCV001275332 RCV002490740 RCV003242981 RCV003888467 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
RPE65-related recessive retinopathy
Leber congenital amaurosis 2

Reviewed By Expert Panel

CA226550

rs_61752880

4 SubmittersRCV000085198 RCV001854498 RCV004595854 RCV004566978

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

SNV
Germline

Chr1:68444582

Likely pathogenic

Condition: not provided
Leber congenital amaurosis 2

No Assertion Criteria Provided

CA226553

rs_61752882

2 SubmittersRCV000085200 RCV001250685

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

SNV
Germline

Chr1:68440997

Pathogenic

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

Reviewed By Expert Panel

CA226557

rs_61752883

10 SubmittersRCV000085203 RCV000678617 RCV000778252 RCV001250708 RCV001245153 RCV001831894 RCV004527316

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
RPE65-related recessive retinopathy
Leber congenital amaurosis 2

Reviewed By Expert Panel

CA226559

rs_61752884

5 SubmittersRCV000085205 RCV001257821 RCV001388257 RCV004527317 RCV004566979

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

Reviewed By Expert Panel

CA226576

rs_61751277

10 SubmittersRCV000085218 RCV001250672 RCV001218527 RCV002222384 RCV003764796

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

SNV
Germline

Chr1:68439571

Pathogenic

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

Reviewed By Expert Panel

CA226579

rs_61752896

7 SubmittersRCV000085220 RCV000678618 RCV001207227 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
Retinal dystrophy
Leber congenital amaurosis
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Retinitis pigmentosa 87 with choroidal involvement
Leber congenital amaurosis 2
RPE65-related recessive retinopathy

Reviewed By Expert Panel

CA226591

rs_61751279

13 SubmittersRCV000085232 RCV000668398 RCV001074560 RCV001003189 RCV001250674 RCV002498451 RCV003460771

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

Pathogenic

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

Criteria Provided
Single Submitter

CA226599

rs_61752908

3 SubmittersRCV000085237 RCV000808234 RCV001250691

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
Stargardt disease 3
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
Age related macular degeneration 2
ABCA4-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA226973

rs_61749423

16 SubmittersRCV000085458 RCV000210310 RCV000504983 RCV004558307 RCV000408512 RCV001073628 RCV001195987 RCV004732663

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

SNV
Germline

Chr1:94021340

Pathogenic/Likely pathogenic; other

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227253

rs_61751404

20 SubmittersRCV000085683 RCV000210311 RCV000408519 RCV000505114 RCV000787504 RCV002505017 RCV004732674 RCV004760372

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

SNV
Germline

Chr19:47836308

Likely pathogenic

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

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
Cone-rod dystrophy 2
Leber congenital amaurosis 7

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

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

Criteria Provided
Conflicting Classifications

CA227619

rs_145805694

7 SubmittersRCV000374438 RCV000282603 RCV000335244 RCV001512740 RCV000085996

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

SNV
Germline

Chr19:47839492

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA227624

rs_61748442

11 SubmittersRCV000787829 RCV001089193 RCV001131569 RCV000990235 RCV001131568 RCV001257854 RCV004755770 RCV004815140 RCV000086001

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

SNV
Germline

Chr19:47839616

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA227634

rs_61748451

4 SubmittersRCV001132601 RCV001132602 RCV001132603 RCV001474134 RCV000086010

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

SNV
Germline

Chr19:47839664

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA227639

rs_61748455

4 SubmittersRCV000086014 RCV000277021 RCV000368298 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

Criteria Provided
Multiple Submitters
No Conflicts

CA227705

rs_62636511

6 SubmittersRCV000086069 RCV001542663 RCV004689604 RCV004794360

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

SNV
Germline

Chr6:35499990

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA227706

rs_141980901

9 SubmittersRCV000591717 RCV001156199 RCV001156200 RCV004734646 RCV000086070

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

SNV
Germline

Chr6:35499980

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227708

rs_281865168

8 SubmittersRCV000086071 RCV000454167 RCV000454250 RCV001257785 RCV001075035

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

SNV
Germline

Chr6:35498466

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227709

rs_281865171

11 SubmittersRCV000086072 RCV000787923 RCV001073440 RCV001376339 RCV002228330 RCV002483168

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

SNV
Germline

Chr6:35512638

Pathogenic/Likely pathogenic

Condition: not provided
Leber congenital amaurosis 15
Retinitis pigmentosa 14

Criteria Provided
Multiple Submitters
No Conflicts

CA227719

rs_281865166

5 SubmittersRCV000086081 RCV001255922 RCV001376338

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

SNV
Germline

Chr17:6433961

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA227868

rs_62635774

4 SubmittersRCV000363858 RCV001078533 RCV001125502 RCV000086214

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

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

Criteria Provided
Conflicting Classifications

CA227893

rs_62637018

3 SubmittersRCV000263430 RCV000353479 RCV001085755 RCV000086232

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

SNV
Germline

Chr17:6434107

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA227901

rs_140124986

5 SubmittersRCV000360989 RCV000303893 RCV001080115 RCV001699204 RCV000086237

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227967

rs_62640581

8 SubmittersRCV000086289 RCV001216498 RCV001199210 RCV001831897 RCV002498466 RCV003467011

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

SNV
Germline

Chr12:88083888

Pathogenic

Condition: not provided
Leber congenital amaurosis
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Bardet-Biedl syndrome 14
CEP290-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA227973

rs_62640574

5 SubmittersRCV000086293 RCV001002936 RCV001385691 RCV003467013 RCV004542803

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

SNV
Germline

Chr12:88083077

Pathogenic/Likely pathogenic

Condition: not provided
CEP290-related disorder
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Senior-Loken syndrome 6
Leber congenital amaurosis
Leber congenital amaurosis 10
Retinitis pigmentosa
CEP290-related ciliopathy
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA227975

rs_62638179

9 SubmittersRCV000086294 RCV000263885 RCV000637002 RCV001335142 RCV001276492 RCV002227445 RCV001723671 RCV004593991 RCV003467014

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

SNV
Germline

Chr1:197356990

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227987

rs_62645754

8 SubmittersRCV000086304 RCV003453010 RCV004815175 RCV001002989 RCV001857423 RCV001250593 RCV003453011 RCV002498468

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

SNV
Germline

Chr1:197421036

Pathogenic

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

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
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA227991

rs_62636282

5 SubmittersRCV000086307 RCV000310950 RCV000274599 RCV000370258 RCV001080606 RCV003888496

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

SNV
Germline

Chr1:197421266

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227993

rs_62636264

8 SubmittersRCV000086308 RCV001376374 RCV000797320 RCV001826777 RCV003453013 RCV003235040 RCV003453012

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

SNV
Germline

Chr1:197421475

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA227996

rs_62636283

5 SubmittersRCV000324209 RCV000283110 RCV000378808 RCV001084432 RCV000086310

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

SNV
Germline

Chr1:197421870

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA228000

rs_62636266

8 SubmittersRCV000086312 RCV004815176 RCV001046839 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
Leber congenital amaurosis 8
Retinitis pigmentosa 12
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

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

Criteria Provided
Conflicting Classifications

CA228017

rs_62636290

8 SubmittersRCV001526761 RCV000086327 RCV000763788 RCV001826778 RCV001239396 RCV001563888 RCV004529904 RCV004815178

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

Criteria Provided
Multiple Submitters
No Conflicts

CA203679

rs_62636273

14 SubmittersRCV000086328 RCV000542027 RCV000505142 RCV001074017 RCV001250608 RCV001275654 RCV001376474 RCV001723672 RCV003453019

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

Criteria Provided
Multiple Submitters
No Conflicts

CA228036

rs_62636276

6 SubmittersRCV000086342 RCV001075774 RCV001250617 RCV001378740 RCV003453029 RCV003453028

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

SNV
Germline

Chr1:197435183

Pathogenic

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

Criteria Provided
Single Submitter

CA228037

rs_62636276

3 SubmittersRCV000086343 RCV002514529 RCV001250629

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

Criteria Provided
Multiple Submitters
No Conflicts

CA228044

rs_281865174

5 SubmittersRCV000086348 RCV001250619 RCV001857425 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
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis
Retinitis pigmentosa 12

Criteria Provided
Conflicting Classifications

CA228050

rs_62636262

4 SubmittersRCV000086355 RCV001242505 RCV001826780 RCV001588920

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

SNV
Germline

Chr1:197328965

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA228054

rs_62645749

10 SubmittersRCV000086360 RCV000382919 RCV000288080 RCV000986485 RCV000787825 RCV001080600 RCV001251962 RCV001271893

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
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
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

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

Criteria Provided
Conflicting Classifications

CA150915

rs_61941020

18 SubmittersRCV000336982 RCV000292636 RCV000352237 RCV000399104 RCV000407985 RCV000436165 RCV001084256 RCV001826782 RCV002294031 RCV003888506 RCV000114201

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

SNV
Germline

Chr4:39273029

Conflicting classifications of pathogenicity

Senior-Loken syndrome 8
Condition: not provided
Nephronophthisis 13
Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8
Cranioectodermal dysplasia
Leber congenital amaurosis
Cranioectodermal dysplasia 4
Nephronophthisis 13

Criteria Provided
Conflicting Classifications

CA151412

rs_79436363

8 SubmittersRCV000115014 RCV000433622 RCV000850617 RCV000653250 RCV000754960 RCV001262101 RCV003224150 RCV003224149

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

SNV
Germline

Chr12:88118575

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA290037

rs_142742071

9 SubmittersRCV000124244 RCV000266641 RCV000262275 RCV000321698 RCV000297299 RCV000361419 RCV000475858 RCV001274128 RCV002294036 RCV002505080

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

SNV
Germline

Chr12:88090836

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA290039

rs_150138016

7 SubmittersRCV000124246 RCV000279934 RCV000293222 RCV000372128 RCV000337209 RCV000375509 RCV000459124 RCV001271579 RCV001812001 RCV002294037

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

SNV
Germline

Chr12:88080209

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA290041

rs_79644671

8 SubmittersRCV000124248 RCV000267777 RCV000259368 RCV000322977 RCV000319253 RCV000354431 RCV000472139 RCV001276489 RCV001812002 RCV002294038

NM_000180.4(GUCY2D):c.164C>T (p.Thr55Met)

SNV
Germline

Chr17:8003211

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA232809

rs_201414567

6 SubmittersRCV000132567 RCV000989734 RCV001079675 RCV001725998

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

SNV
Germline

Chr12:88058879

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA207418

rs_77778467

12 SubmittersRCV000132681 RCV000988879 RCV001109949 RCV001109950 RCV001272010 RCV003888568 RCV000490488 RCV001110732 RCV000193732 RCV001110731 RCV001083794

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

SNV
Germline

Chr1:197421404

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA170083

rs_114342808

12 SubmittersRCV000132698 RCV001002990 RCV000792250 RCV003453098 RCV003453099 RCV000179572 RCV001073589

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

SNV
Germline

Chr1:215650692

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA270145

rs_527236126

6 SubmittersRCV000132706 RCV000144482 RCV000675147 RCV002514760 RCV003462051 RCV003888572

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

SNV
Germline

Chr12:88118482

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA345951

rs_587783009

6 SubmittersRCV000144459 RCV001384909 RCV002492522 RCV003467201 RCV003387770 RCV003888575

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
Leber congenital amaurosis
Condition: not provided
Familial aplasia of the vermis

Criteria Provided
Multiple Submitters
No Conflicts

CA270780

rs_587783013

10 SubmittersRCV000144464 RCV000678521 RCV001262092 RCV001698972 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
Familial aplasia of the vermis
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
Joubert syndrome 5
CEP290-related disorder
Senior-Loken syndrome 6
Joubert syndrome 5
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Nephronophthisis
Familial aplasia of the vermis
Meckel-Gruber syndrome
Leber congenital amaurosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA233675

rs_201504946

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

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

SNV
Germline

Chr12:88139519

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA233682

rs_373913704

9 SubmittersRCV000723892 RCV004528882 RCV001110739 RCV003298162 RCV001079764 RCV001110738 RCV001110740 RCV001818343 RCV001109956 RCV001110741

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

SNV
Germline

Chr1:197427616

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA233861

rs_375040930

7 SubmittersRCV000153110 RCV001235069 RCV001250605 RCV001831949 RCV002247550 RCV004796048

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

SNV
Germline

Chr12:88125356

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA179860

rs_188164241

16 SubmittersRCV001110567 RCV001110568 RCV001110569 RCV004815226 RCV000658663 RCV000988890 RCV001084283 RCV001110571 RCV001275040 RCV002294046 RCV000152980 RCV001110570

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

Criteria Provided
Conflicting Classifications

CA179856

rs_117852025

14 SubmittersRCV000152970 RCV001114077 RCV001114078 RCV001114079 RCV001252445 RCV001114081 RCV001272012 RCV000224947 RCV001082043 RCV001114080

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

SNV
Germline

Chr12:88118527

Conflicting classifications of pathogenicity

Leber congenital amaurosis
Condition: not provided
CEP290-related disorder
not specified
Nephronophthisis
Familial aplasia of the vermis
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA233677

rs_727503854

5 SubmittersRCV001275036 RCV000723757 RCV004532719 RCV000152978 RCV001058824

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

SNV
Germline

Chr17:6425609

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA233457

rs_143092701

8 SubmittersRCV000723947 RCV000152763 RCV001085552 RCV004732710 RCV004815222

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

SNV
Germline

Chr1:197435029

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA233863

rs_727503889

3 SubmittersRCV000153112 RCV001526715 RCV001850090

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

SNV
Germline

Chr14:88431176

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA234982

rs_375371982

6 SubmittersRCV000153988 RCV001049973 RCV001120978 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
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Meckel syndrome, type 4
Joubert syndrome 5
Bardet-Biedl syndrome 14
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA233673

rs_73192874

4 SubmittersRCV000152976 RCV000399776 RCV000291841 RCV000346891 RCV000400108 RCV000344957 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
Leber congenital amaurosis 8
Retinitis pigmentosa 12
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/Likely pathogenic

Achromatopsia 3
Leber congenital amaurosis
Retinal dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA274008

rs_773372519

8 SubmittersRCV000169173 RCV000678548 RCV001074271 RCV001036288

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

SNV
Germline

Chr14:88391457

Likely pathogenic

Leber congenital amaurosis 3

Criteria Provided
Single Submitter

CA274500

rs_786204787

1 SubmittersRCV000169677

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

SNV
Germline

Chr1:211481236

Pathogenic

Condition: not provided
Leber congenital amaurosis 12

Criteria Provided
Single Submitter

CA274682

rs_762631020

2 SubmittersRCV001726018 RCV000170305

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

Condition: not provided
Retinal dystrophy
Leber congenital amaurosis 9

Criteria Provided
Multiple Submitters
No Conflicts

CA235735

rs_748902766

6 SubmittersRCV000171148 RCV001075815 RCV001256641

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

SNV
Germline

Chr1:197421008

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA235914

rs_767745816

8 SubmittersRCV000171226 RCV001003226 RCV001257831 RCV001852064

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

SNV
Germline

Chr19:47839341

Conflicting classifications of pathogenicity

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

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

Criteria Provided
Conflicting Classifications

CA236254

rs_770045008

7 SubmittersRCV001257784 RCV000171394 RCV004796064 RCV003888608

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

SNV
Germline

Chr1:197429555

Pathogenic/Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA279259

rs_863223341

2 SubmittersRCV003474924 RCV000201433

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

5 SubmittersRCV000174020 RCV000281510 RCV000322287 RCV000765929 RCV000877998 RCV004535194

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

SNV
Germline

Chr12:88120108

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA201235

rs_148446546

9 SubmittersRCV000174953 RCV000835406 RCV001084413 RCV001112003 RCV001112004 RCV001112005 RCV001112002 RCV001112006

NM_000180.4(GUCY2D):c.3098C>T (p.Ser1033Leu)

SNV
Germline

Chr17:8015981

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA240817

rs_146149224

4 SubmittersRCV000585411 RCV001083338 RCV003982924

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

SNV
Germline

Chr12:88117141

Conflicting classifications of pathogenicity

Leber congenital amaurosis
not specified
Meckel-Gruber syndrome
Nephronophthisis
Familial aplasia of the vermis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA241104

rs_372349042

5 SubmittersRCV001275034 RCV000175368 RCV001088014 RCV000724312

NM_000180.4(GUCY2D):c.271G>C (p.Ala91Pro)

SNV
Germline

Chr17:8003318

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA241298

rs_573367793

4 SubmittersRCV000175541 RCV002056936 RCV003917627

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

SNV
Germline

Chr17:8003566

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA241300

rs_794727237

2 SubmittersRCV000175542 RCV002056937

NM_000180.4(GUCY2D):c.369C>T (p.Gly123=)

SNV
Germline

Chr17:8003416

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA241302

rs_529594203

5 SubmittersRCV000415915 RCV001079674 RCV001706123

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

SNV
Germline

Chr14:21294745

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA201680

rs_192003551

6 SubmittersRCV000175918 RCV000724658 RCV001261169 RCV001852161

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

Criteria Provided
Conflicting Classifications

CA201752

rs_77713666

7 SubmittersRCV000176012 RCV000386258 RCV000277900 RCV000331649 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
not specified
Joubert syndrome 5
Senior-Loken syndrome 6
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Leber congenital amaurosis 10
Leber congenital amaurosis
CEP290-related disorder
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA205610

rs_182369459

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

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

SNV
Germline

Chr1:68446787

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 20
Leber congenital amaurosis 2
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
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Bardet-Biedl syndrome 14
Joubert syndrome 5
Senior-Loken syndrome 6
Meckel syndrome, type 4
Leber congenital amaurosis 10
Condition: not provided
Leber congenital amaurosis
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA202523

rs_201838492

12 SubmittersRCV000177576 RCV000198308 RCV000300808 RCV000335768 RCV000348352 RCV000401126 RCV000400157 RCV001699223 RCV001826899 RCV004528944

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

SNV
Germline

Chr12:88087872

Conflicting classifications of pathogenicity

Condition: not provided
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Leber congenital amaurosis
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA244173

rs_184143186

8 SubmittersRCV000177662 RCV001080328 RCV001273073 RCV003150971 RCV004975310

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

SNV
Germline

Chr12:88080226

Pathogenic/Likely pathogenic

Condition: not provided
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Leber congenital amaurosis 10
Leber congenital amaurosis
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA275233

rs_370119681

10 SubmittersRCV000523279 RCV001036300 RCV001376454 RCV001826904 RCV002222427 RCV003468864 RCV004816287

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

SNV
Germline

Chr12:88079134

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA202689

rs_117370446

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

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

SNV
Germline

Chr17:8006626

Conflicting classifications of pathogenicity

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

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
GUCY2D-related disorder

Criteria Provided
Conflicting Classifications

CA245079

rs_138836357

9 SubmittersRCV000487602 RCV000989735 RCV001083929 RCV001001148 RCV004816289 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
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Leber congenital amaurosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA202959

rs_191613017

5 SubmittersRCV000178636 RCV000637007 RCV001272011 RCV001697163

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

SNV
Germline

Chr14:67725106

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 13
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA246260

rs_771614823

3 SubmittersRCV000179017 RCV001430505 RCV001109344

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
Cone-rod dystrophy 6
Leber congenital amaurosis 1

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

Condition: not provided
Senior-Loken syndrome 6
Familial aplasia of the vermis
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 10
Meckel syndrome, type 4
Joubert syndrome 5
Retinal dystrophy
not specified
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA246815

rs_140236736

7 SubmittersRCV000179537 RCV001112634 RCV001085617 RCV001112630 RCV001112631 RCV001112632 RCV001112633 RCV003227695 RCV003888636 RCV003488430 RCV004539683

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

SNV
Germline

Chr12:88136743

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Leber congenital amaurosis
Joubert syndrome 5
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA246817

rs_150296134

11 SubmittersRCV000179538 RCV000724859 RCV001082749 RCV001275047 RCV001526756 RCV004537490

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

SNV
Germline

Chr1:197427787

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA247395

rs_142857810

8 SubmittersRCV000488061 RCV001087243 RCV001376275 RCV001563786 RCV003888637

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

SNV
Germline

Chr6:79487072

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 5
Leber congenital amaurosis

Criteria Provided
Conflicting Classifications

CA248276

rs_143582502

4 SubmittersRCV000180711 RCV001335589 RCV001272068

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

SNV
Germline

Chr12:88086450

Likely pathogenic

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

Likely pathogenic

Leber congenital amaurosis 16
Leber congenital amaurosis

Criteria Provided
Single Submitter

CA278972

rs_863224884

2 SubmittersRCV000197888 RCV000515663

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
Nephronophthisis
Familial aplasia of the vermis
Meckel-Gruber syndrome
Retinal dystrophy
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10

Criteria Provided
Multiple Submitters
No Conflicts

CA277735

rs_371525247

7 SubmittersRCV000201627 RCV000598256 RCV001382359 RCV004816348 RCV003468924 RCV004798806

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

SNV
Germline

Chr12:88079112

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA277810

rs_575767207

7 SubmittersRCV000201766 RCV000763310 RCV001058542 RCV000598977 RCV003468923 RCV004732784

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

SNV
Germline

Chr12:88083161

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA277760

rs_376493409

12 SubmittersRCV000414892 RCV000493605 RCV000201672 RCV000806654 RCV000763311 RCV000626966 RCV001271568 RCV003462354 RCV004816347 RCV002519581 RCV004732783

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

SNV
Germline

Chr12:88084768

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA277724

rs_749439750

14 SubmittersRCV000521437 RCV000201597 RCV001036850 RCV002250594 RCV002485329 RCV001828040 RCV003468926 RCV003155122 RCV004816349

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

SNV
Germline

Chr12:88086083

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA277705

rs_539400286

16 SubmittersRCV000201563 RCV001002937 RCV000502726 RCV000763314 RCV000816913 RCV001529566 RCV001589085 RCV001030764 RCV003468919 RCV004732782

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

SNV
Germline

Chr19:47839516

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA339650

rs_864309706

3 SubmittersRCV000203264 RCV001208760 RCV004721295

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

Toriello-Lacassie-Droste syndrome
Leber congenital amaurosis

Criteria Provided
Single Submitter

CA358306

rs_751218423

2 SubmittersRCV000210001 RCV000210897

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

Criteria Provided
Conflicting Classifications

CA1312195

rs_114052315

5 SubmittersRCV000262643 RCV000329706 RCV000490294 RCV001275655 RCV000946241 RCV003888643

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

SNV
Germline

Chr12:88139202

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712862

rs_200666995

7 SubmittersRCV000224686 RCV000244417 RCV001109951 RCV001518146 RCV001109952 RCV001109954 RCV001109953 RCV001109955 RCV004529386

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

SNV
Germline

Chr1:197427633

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA1312098

rs_767648174

10 SubmittersRCV000225453 RCV001069480 RCV001833240 RCV001376283 RCV003454681 RCV003454682

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

SNV
Germline

Chr1:197429605

Conflicting classifications of pathogenicity

Retinal dystrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12

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
Leber congenital amaurosis 8
Retinitis pigmentosa 12

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10581632

rs_878853367

3 SubmittersRCV000225544 RCV002519764

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

SNV
Germline

Chr1:68439325

Pathogenic

Retinal dystrophy
Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

CA10581648

rs_878853372

2 SubmittersRCV000225374 RCV003765455

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

SNV
Germline

Chr12:88117076

Pathogenic

Retinal dystrophy
Bardet-Biedl syndrome 14
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Condition: not provided
Leber congenital amaurosis
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

CA6712475

rs_371496675

7 SubmittersRCV000225634 RCV003463626 RCV001389936 RCV000522611 RCV001274126 RCV002500754 RCV004532829

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

SNV
Germline

Chr12:88139144

Pathogenic

Retinal dystrophy
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Bardet-Biedl syndrome 14
Condition: not provided
Leber congenital amaurosis
Meckel syndrome, type 4

Criteria Provided
Multiple Submitters
No Conflicts

CA10581686

rs_878853360

6 SubmittersRCV000225517 RCV001223284 RCV003469116 RCV001782716 RCV001833239 RCV003155133

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
Leber congenital amaurosis 6
Cone-rod dystrophy 13

Criteria Provided
Single Submitter

CA7089216

rs_577932201

2 SubmittersRCV000225680 RCV002516255

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

SNV
Germline

Chr14:67729382

Pathogenic

Retinal dystrophy
Leber congenital amaurosis 13
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA10581695

rs_878853338

4 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

4 SubmittersRCV000225474 RCV001053170 RCV001828100

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

SNV
Germline

Chr17:8003427

Conflicting classifications of pathogenicity

Retinal dystrophy
Cone-rod dystrophy 6
Leber congenital amaurosis 1

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

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

Criteria Provided
Conflicting Classifications

CA6711411

rs_572443869

3 SubmittersRCV000226860 RCV001109944 RCV001109946 RCV001109945 RCV001109947 RCV001109948 RCV004725118

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

SNV
Germline

Chr12:88083105

Conflicting classifications of pathogenicity

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

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

7 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
Bardet-Biedl syndrome 14
Joubert syndrome 5
Leber congenital amaurosis 10
Meckel syndrome, type 4
Condition: not provided
Senior-Loken syndrome 6
Meckel-Gruber syndrome
Familial aplasia of the vermis
Nephronophthisis
Leber congenital amaurosis

Criteria Provided
Conflicting Classifications

CA6711707

rs_11104729

11 SubmittersRCV000246283 RCV000297940 RCV000338834 RCV000342377 RCV000391752 RCV000514061 RCV000402056 RCV001084053 RCV001828148

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

SNV
Germline

Chr12:88083853

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711863

rs_201614215

8 SubmittersRCV000243671 RCV000270848 RCV000283968 RCV000328558 RCV000338967 RCV000383188 RCV000860688 RCV001546981 RCV001833282

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

SNV
Germline

Chr12:88118708

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712524

rs_147371999

8 SubmittersRCV000254461 RCV001113718 RCV001113719 RCV001086907 RCV001109702 RCV001109701 RCV001109703 RCV001572697

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

SNV
Germline

Chr12:88121058

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712583

rs_200211587

9 SubmittersRCV000244107 RCV000860381 RCV001109774 RCV001113800 RCV001113801 RCV001113802 RCV001113799 RCV001275038 RCV001311004

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

SNV
Germline

Chr14:21324775

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7089121

rs_368434311

5 SubmittersRCV000246883 RCV000333550 RCV000388083 RCV000952570 RCV003401208

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

SNV
Germline

Chr17:6435121

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8328687

rs_188246267

2 SubmittersRCV000251131 RCV000325640 RCV000296424 RCV000382676

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

SNV
Germline

Chr1:197328935

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 12
Macular dystrophy
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
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

CA1311659

rs_764256655

9 SubmittersRCV000255600 RCV001075823 RCV001542640 RCV000656138 RCV002500956 RCV003454773 RCV001040337 RCV003454774

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

SNV
Germline

Chr1:9982368

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA579271

rs_371526758

6 SubmittersRCV000030768 RCV000255071 RCV004649113 RCV004757984

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6712427

rs_780225183

8 SubmittersRCV000636991 RCV000313260 RCV001199213 RCV001075417 RCV001833301 RCV003463734 RCV002500965

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

SNV
Germline

Chr14:21326131

Pathogenic

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

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

Criteria Provided
Conflicting Classifications

CA6712623

rs_201988582

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

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

SNV
Germline

Chr12:88106770

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10603872

rs_886042153

11 SubmittersRCV000382757 RCV000787815 RCV000988885 RCV001380938 RCV002222465 RCV002479997 RCV003447521 RCV003469220 RCV004816477

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

SNV
Germline

Chr1:68444798

Pathogenic

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

Reviewed By Expert Panel

CA10603953

rs_886042220

4 SubmittersRCV000288725 RCV002519096 RCV003765588 RCV004567825

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

SNV
Germline

Chr12:88071833

Pathogenic/Likely pathogenic

Condition: not provided
Leber congenital amaurosis
Nephronophthisis
Familial aplasia of the vermis
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14
CEP290-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA10604125

rs_886042360

6 SubmittersRCV000593831 RCV001199656 RCV001384490 RCV003469223 RCV004732816

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

SNV
Germline

Chr12:88084814

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711925

rs_181248369

4 SubmittersRCV000276958 RCV000863632 RCV001113143 RCV001114512 RCV001114513 RCV001113144 RCV001113145 RCV001697702

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

SNV
Germline

Chr14:21321995

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7089060

rs_147586703

11 SubmittersRCV000325954 RCV000763912 RCV001111169 RCV001800646 RCV002282101 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

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

Criteria Provided
Conflicting Classifications

CA7089204

rs_145896974

11 SubmittersRCV000303580 RCV000339400 RCV000396376 RCV000641902 RCV001699333 RCV003920089 RCV004816497

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

Criteria Provided
Conflicting Classifications

CA7088688

rs_186266220

5 SubmittersRCV000276671 RCV000322396 RCV000358467 RCV000959229 RCV003940004

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

SNV
Germline

Chr14:67733766

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7238874

rs_61740289

6 SubmittersRCV000293076 RCV001041798 RCV001075352 RCV003155148 RCV001277208

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
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Retinal dystrophy
CRB1-related disorder

Criteria Provided
Conflicting Classifications

CA1312210

rs_114630940

5 SubmittersRCV000376545 RCV001275656 RCV001080703 RCV003888680 RCV004529472

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

SNV
Germline

Chr12:88086038

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6711940

rs_760915898

9 SubmittersRCV000473837 RCV000498064 RCV000779117 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_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
Retinitis pigmentosa
Condition: not provided
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis

Criteria Provided
Conflicting Classifications

CA1312032

rs_144436610

7 SubmittersRCV000313740 RCV000363592 RCV000407701 RCV000585260 RCV001082136 RCV001833395

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

SNV
Germline

Chr1:197427597

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1312087

rs_201700675

3 SubmittersRCV000371225 RCV001067120 RCV001828271

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

SNV
Germline

Chr12:88059897

Conflicting classifications of pathogenicity

Joubert syndrome 5
Condition: not provided
Nephronophthisis
Familial aplasia of the vermis
Meckel-Gruber syndrome
Meckel syndrome, type 4
Senior-Loken syndrome 6
Meckel syndrome, type 4
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
Bardet-Biedl syndrome 14
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA6711459

rs_201218801

10 SubmittersRCV000454208 RCV000497486 RCV000801486 RCV001331377 RCV001833396 RCV002467720 RCV002522012 RCV003463776 RCV004537606

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

SNV
Germline

Chr1:197420985

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1311873

rs_375141011

2 SubmittersRCV000304813 RCV000336321 RCV000401040 RCV001491386

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

SNV
Germline

Chr1:197427744

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

CA1312121

rs_371089348

2 SubmittersRCV000306210 RCV000359746 RCV000391747 RCV000951208

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

SNV
Germline

Chr1:197438690

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1312424

rs_200217112

2 SubmittersRCV000279430 RCV000336749 RCV001444410 RCV000400725

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

Criteria Provided
Conflicting Classifications

CA1312077

rs_140494140

3 SubmittersRCV000266368 RCV000360994 RCV001242513 RCV001828286

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

SNV
Germline

Chr1:197427555

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1312078

rs_150412614

6 SubmittersRCV000281831 RCV000317013 RCV000371666 RCV000418233 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
Retinitis pigmentosa
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Conflicting Classifications

CA1312328

rs_116246250

2 SubmittersRCV000269228 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
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis
Retinitis pigmentosa 12
Retinal dystrophy
CRB1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1311688

rs_114846212

8 SubmittersRCV000285066 RCV000347681 RCV000384124 RCV000945440 RCV001271894 RCV003454863 RCV003888696 RCV004537638 RCV004567846

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

SNV
Germline

Chr1:197421580

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1311978

rs_750442312

4 SubmittersRCV000279892 RCV000334922 RCV000400239 RCV001833418 RCV000893286 RCV003888697

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

SNV
Germline

Chr1:197421838

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

CA1312017

rs_201949837

2 SubmittersRCV000293851 RCV000348791 RCV000401010 RCV001435530

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
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA1312377

rs_142090517

3 SubmittersRCV000272687 RCV000320691 RCV000964610 RCV000377313 RCV003888699

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

SNV
Germline

Chr1:197438544

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1312396

rs_187937543

3 SubmittersRCV000285227 RCV000342421 RCV000371471 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

Criteria Provided
Conflicting Classifications

CA2170027

rs_769501717

2 SubmittersRCV000395001 RCV001465808

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

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

Criteria Provided
Conflicting Classifications

CA4471065

rs_144659635

7 SubmittersRCV000347099 RCV000287544 RCV000521919 RCV004544684 RCV003168555

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

Criteria Provided
Conflicting Classifications

CA4815342

rs_140782427

4 SubmittersRCV001027714 RCV001044903

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

3 SubmittersRCV000260046 RCV000945780 RCV001272071

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

SNV
Germline

Chr6:79491589

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3900944

rs_200988021

4 SubmittersRCV000393430 RCV000946289 RCV001272073 RCV002524508

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
not specified
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3901128

rs_200395970

5 SubmittersRCV000400678 RCV001553635 RCV001199700 RCV001861293

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

SNV
Germline

Chr7:128394497

Conflicting classifications of pathogenicity

Leber congenital amaurosis 11
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4470765

rs_147882304

2 SubmittersRCV000363032 RCV000396001 RCV001518880

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

SNV
Germline

Chr7:128398600

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Leber congenital amaurosis 11
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4470993

rs_72624957

2 SubmittersRCV000342291 RCV000381950 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
Inborn genetic diseases
not specified
Condition: not provided
Klippel-Feil syndrome 1, autosomal dominant
Microphthalmia, isolated, with coloboma 6
Isolated microphthalmia 4
Leber congenital amaurosis 17

Criteria Provided
Conflicting Classifications

CA10631741

rs_886063208

5 SubmittersRCV000298662 RCV004022085 RCV004689724 RCV001200311 RCV001861334

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

SNV
Germline

Chr12:88087887

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712028

rs_181121175

8 SubmittersRCV000389733 RCV000345714 RCV000400374 RCV001273074 RCV000288370 RCV002294263 RCV000291084 RCV003888722 RCV004537751 RCV000548918 RCV001085312

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

SNV
Germline

Chr12:88118717

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712526

rs_752942122

3 SubmittersRCV000360538 RCV000728042 RCV000305920 RCV000335728 RCV000398619 RCV000299546 RCV001079199

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

SNV
Germline

Chr12:88141913

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10633653

rs_759820573

3 SubmittersRCV000281237 RCV000338378 RCV000422198 RCV000330322 RCV000372028 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
Cone-rod dystrophy 13
Leber congenital amaurosis 6

Criteria Provided
Conflicting Classifications

CA7088724

rs_371762530

3 SubmittersRCV000329549 RCV000384076 RCV000983971

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 RCV000398658 RCV001513783

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

SNV
Germline

Chr14:67727102

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7238750

rs_79869437

4 SubmittersRCV001275433 RCV000951682 RCV001109349 RCV000346851 RCV003888728

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

SNV
Germline

Chr14:67729233

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7238798

rs_750636662

9 SubmittersRCV000342637 RCV000993746 RCV001243727 RCV001833459 RCV003324525 RCV001753776

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

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

Criteria Provided
Conflicting Classifications

CA6711281

rs_765709669

3 SubmittersRCV000339178 RCV000401265 RCV001410302 RCV000280658 RCV004537747 RCV000286608 RCV000378693

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

SNV
Germline

Chr12:88050347

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711328

rs_745813087

3 SubmittersRCV000323734 RCV000270876 RCV001409432 RCV000322071 RCV000283328 RCV000729391 RCV000380635

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

SNV
Germline

Chr12:88071872

Conflicting classifications of pathogenicity

Joubert syndrome 5
not specified
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Leber congenital amaurosis 10
Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA6711648

rs_746949236

3 SubmittersRCV000391502 RCV000603796 RCV000339249 RCV000303118 RCV000398921 RCV000347524 RCV001341200

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

SNV
Germline

Chr12:88089502

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712114

rs_565414938

2 SubmittersRCV000272452 RCV000267083 RCV001513375 RCV000378166 RCV000321121 RCV000324529

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

SNV
Germline

Chr12:88111737

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712389

rs_375038986

8 SubmittersRCV000371328 RCV000365084 RCV000307295 RCV000861492 RCV003888723 RCV002467728 RCV004732842 RCV000310425 RCV001252733 RCV001562789 RCV000400672

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

SNV
Germline

Chr12:88141254

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10638700

rs_886049885

2 SubmittersRCV000295236 RCV000352716 RCV000325527 RCV001421212 RCV000382505 RCV000386249

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

Criteria Provided
Conflicting Classifications

CA7088532

rs_201384449

4 SubmittersRCV000285535 RCV000345131 RCV000416234 RCV001079403

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.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
Leber congenital amaurosis 13
Retinal dystrophy
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA7238660

rs_552516182

4 SubmittersRCV000381378 RCV001850657 RCV003888726 RCV001109345

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
Inborn genetic diseases
Leber congenital amaurosis 13
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA7238787

rs_769317754

4 SubmittersRCV000302468 RCV001275436 RCV002520913 RCV000955105 RCV001111665

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

SNV
Germline

Chr14:88426246

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Leber congenital amaurosis 3

Criteria Provided
Conflicting Classifications

CA7298529

rs_199727517

2 SubmittersRCV000389308 RCV000952248

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

SNV
Germline

Chr12:88050377

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711331

rs_189556433

7 SubmittersRCV000374397 RCV000465588 RCV000335271 RCV001700050 RCV003888721 RCV000282628 RCV000295385 RCV001276480 RCV001545810 RCV000400288

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

SNV
Germline

Chr12:88077210

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711673

rs_371010287

2 SubmittersRCV000259439 RCV000300620 RCV000355216 RCV002056336 RCV000304102 RCV000354211

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

SNV
Germline

Chr12:88087823

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712022

rs_143152287

5 SubmittersRCV000268181 RCV000360821 RCV000303676 RCV001347081 RCV000316272 RCV004732840 RCV000603267 RCV000354663 RCV001273072

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
Nephronophthisis
Meckel-Gruber syndrome
Familial aplasia of the vermis
Retinal dystrophy
Condition: not provided
Leber congenital amaurosis
Retinitis pigmentosa
Inborn genetic diseases
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA6712084

rs_139998038

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

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

SNV
Germline

Chr12:88106876

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712296

rs_776360559

4 SubmittersRCV000282243 RCV000394763 RCV000399710 RCV000605884 RCV001245594 RCV000337086 RCV000350122 RCV004544544

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

SNV
Germline

Chr12:88115099

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712437

rs_199747962

5 SubmittersRCV000311480 RCV000860718 RCV001833458 RCV000351341 RCV002467729 RCV002461069 RCV000315150 RCV000390499 RCV000357069

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
Joubert syndrome 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10642542

rs_139415563

2 SubmittersRCV000266217 RCV000309585 RCV000305052 RCV000357550 RCV000402356 RCV001642965

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
Cone-rod dystrophy 2
Leber congenital amaurosis 7

Criteria Provided
Conflicting Classifications

CA10643083

rs_189556251

1 SubmittersRCV000307672 RCV000361147 RCV000401185

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

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

Criteria Provided
Conflicting Classifications

CA6711985

rs_377614744

3 SubmittersRCV000376492 RCV000869776 RCV000328955 RCV000271533 RCV004537749 RCV000306869 RCV000363839

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

SNV
Germline

Chr12:88118633

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712516

rs_377529198

2 SubmittersRCV000327713 RCV000287480 RCV000272744 RCV000981128 RCV000376587 RCV000382304

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

SNV
Germline

Chr12:88130558

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712768

rs_200063017

7 SubmittersRCV000263394 RCV000787814 RCV000637006 RCV001275046 RCV000373256 RCV000355828 RCV003330639 RCV003888725 RCV000316286 RCV004537752 RCV000285505

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

SNV
Germline

Chr14:21294822

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7088596

rs_200225522

5 SubmittersRCV000291173 RCV000394793 RCV000425637 RCV001512676 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
Condition: not provided
Cone-rod dystrophy 13
Leber congenital amaurosis 6

Criteria Provided
Conflicting Classifications

CA7088903

rs_372186092

3 SubmittersRCV000300508 RCV000355383 RCV000761864 RCV001088261

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
Cone-rod dystrophy 13
Leber congenital amaurosis 6

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

Criteria Provided
Conflicting Classifications

CA9544368

rs_139340178

7 SubmittersRCV000280624 RCV000401704 RCV000878021 RCV000787830 RCV001087610 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
Retinitis Pigmentosa, Dominant
Leber congenital amaurosis 4

Criteria Provided
Conflicting Classifications

CA10650670

rs_145706166

1 SubmittersRCV000280028 RCV000351354 RCV000372318

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
Leber congenital amaurosis 4
Retinal dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8328414

rs_138585919

4 SubmittersRCV000332251 RCV000385713 RCV000981801 RCV001075005 RCV003456394

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
Retinitis pigmentosa
Cone-rod dystrophy 2

Criteria Provided
Conflicting Classifications

CA10652624

rs_543729483

1 SubmittersRCV000293631 RCV000348576 RCV000401350

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

Criteria Provided
Multiple Submitters
No Conflicts

CA1312130

rs_116471343

11 SubmittersRCV000414087 RCV000986491 RCV001073689 RCV001064315 RCV001376383 RCV001810876 RCV003137989 RCV004739713 RCV003475999

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
Meckel-Gruber syndrome
Familial aplasia of the vermis
Nephronophthisis
not specified
Leber congenital amaurosis 10
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA6712782

rs_757641323

7 SubmittersRCV000414162 RCV000552078 RCV000999862 RCV002470852 RCV003463818

NM_000329.3(RPE65):c.1338+1G>A

SNV
Germline

Chr1:68431281

Pathogenic

Abnormality of vision
Abnormal electroretinogram
Congenital blindness
Retinal degeneration
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA16043370

rs_1057518922

4 SubmittersRCV000415360 RCV001066256 RCV001198362 RCV003470368 RCV004816644

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_000180.4(GUCY2D):c.1315G>A (p.Gly439Arg)

SNV
Germline

Chr17:8006651

Conflicting classifications of pathogenicity

Abnormal electroretinogram
Nystagmus
Condition: not provided
Cone-rod dystrophy 6
Leber congenital amaurosis 1
Choroidal dystrophy, central areolar, 1
GUCY2D-related disorder

Criteria Provided
Conflicting Classifications

CA8365708

rs_140638938

4 SubmittersRCV000415352 RCV000487886 RCV001078961 RCV001198299 RCV004748751

NM_000329.3(RPE65):c.130C>T (p.Arg44Ter)

SNV
Germline

Chr1:68446825

Pathogenic

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

Reviewed By Expert Panel

CA902588

rs_368088025

13 SubmittersRCV000416243 RCV000528380 RCV000787883 RCV001249416 RCV001275339 RCV002466496 RCV003470371 RCV003889879

NM_020366.4(RPGRIP1):c.268G>A (p.Val90Ile)

SNV
Germline

Chr14:21301015

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16043847

rs_1057519200

5 SubmittersRCV000415874 RCV001800663 RCV001800664 RCV001359271 RCV004816650 RCV001199770

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
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Inborn genetic diseases
Leber congenital amaurosis
Leber congenital amaurosis 8

Criteria Provided
Conflicting Classifications

CA1312198

rs_140648074

6 SubmittersRCV000415891 RCV001270085 RCV001563885 RCV001242512 RCV002521478 RCV001828390 RCV001563884

NM_025114.4(CEP290):c.523C>A (p.Gln175Lys)

SNV
Germline

Chr12:88130414

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712745

rs_202159966

8 SubmittersRCV000428640 RCV000809280 RCV001109868 RCV001109869 RCV001109866 RCV001109867 RCV001110658 RCV001252443 RCV001275045 RCV004530521 RCV004816652

NM_025114.4(CEP290):c.6629G>A (p.Arg2210His)

SNV
Germline

Chr12:88059914

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6711461

rs_371833544

6 SubmittersRCV000417476 RCV000765111 RCV001276484 RCV001245037 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
Meckel-Gruber syndrome
Nephronophthisis
Familial aplasia of the vermis
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

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

Criteria Provided
Conflicting Classifications

CA6712563

rs_200328638

4 SubmittersRCV000441785 RCV000474649 RCV001112008 RCV001112451 RCV001112007 RCV001112009 RCV001112452 RCV002510886

NM_020366.4(RPGRIP1):c.930+3A>G

SNV
Germline

Chr14:21310610

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7088791

rs_150107283

6 SubmittersRCV000417812 RCV000585329 RCV001113069 RCV001083158 RCV001113068 RCV003932581

NM_025114.4(CEP290):c.1729C>T (p.Leu577=)

SNV
Germline

Chr12:88117128

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6712482

rs_201295052

8 SubmittersRCV000733432 RCV001109606 RCV001109607 RCV001109608 RCV001111898 RCV001111899 RCV001084047

NM_020366.4(RPGRIP1):c.3565C>T (p.Arg1189Ter)

SNV
Germline

Chr14:21345145

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA7089550

rs_752175052

6 SubmittersRCV000428349 RCV001387165 RCV001261193 RCV001800668

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_025114.4(CEP290):c.4705-1G>T

SNV
Germline

Chr12:88083955

Pathogenic/Likely pathogenic

Condition: not provided
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome 5
Leber congenital amaurosis
CEP290-related disorder
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA6711875

rs_777464278

5 SubmittersRCV000479832 RCV001060437 RCV001335139 RCV003324527 RCV004527588 RCV003470556

NM_018418.5(SPATA7):c.923G>A (p.Cys308Tyr)

SNV
Germline

Chr14:88429358

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 3

Criteria Provided
Conflicting Classifications

CA7298651

rs_138190453

2 SubmittersRCV000481403 RCV001085427

NM_018418.5(SPATA7):c.1238A>G (p.His413Arg)

SNV
Germline

Chr14:88437860

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 3

Criteria Provided
Conflicting Classifications

CA7298781

rs_149478294

2 SubmittersRCV000486342 RCV001085445

NM_201253.3(CRB1):c.481G>A (p.Ala161Thr)

SNV
Germline

Chr1:197328832

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16621582

rs_1064797126

3 SubmittersRCV000488223 RCV001591128 RCV001072005

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 6
Leber congenital amaurosis
Cone-rod dystrophy 13

Criteria Provided
Multiple Submitters
No Conflicts

CA16621652

rs_1064797182

3 SubmittersRCV000487634 RCV001800703 RCV001199768 RCV001800704

NM_014336.5(AIPL1):c.140C>G (p.Thr47Arg)

SNV
Germline

Chr17:6434055

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 4
not specified

Criteria Provided
Conflicting Classifications

CA8328611

rs_150656720

5 SubmittersRCV000488128 RCV001081379 RCV001700132

NM_000180.4(GUCY2D):c.2122T>C (p.Trp708Arg)

SNV
Germline

Chr17:8013111

Conflicting classifications of pathogenicity

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

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
Retinal dystrophy
Cone-rod dystrophy 2
Leber congenital amaurosis 7

Criteria Provided
Multiple Submitters
No Conflicts

CA16621743

rs_1064797247

3 SubmittersRCV000487650 RCV001073867 RCV001865500

NM_000283.4(PDE6B):c.886G>T (p.Glu296Ter)

SNV
Germline

Chr4:654113

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 40
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA16621814

rs_1064797304

2 SubmittersRCV000488380 RCV001293398 RCV001199718

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

4 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
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA344037829

rs_1085307972

4 SubmittersRCV000488946 RCV001834593 RCV001851320 RCV003449262 RCV003449263

NM_201253.3(CRB1):c.2842T>C (p.Cys948Arg)

SNV
Germline

Chr1:197429614

Pathogenic

Leber congenital amaurosis
Leber congenital amaurosis 1
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12
Retinal dystrophy
CRB1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA344041407

rs_62645747

8 SubmittersRCV000515691 RCV000986493 RCV001250609 RCV001389640 RCV001836643 RCV003449270 RCV003987563 RCV004740266

NM_000329.3(RPE65):c.1338G>T (p.Arg446Ser)

SNV
Germline

Chr1:68431282

Pathogenic

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

Reviewed By Expert Panel

CA418279061

rs_1553152989

6 SubmittersRCV000515747 RCV002248718 RCV001865522 RCV004527377

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
Bardet-Biedl syndrome 14
Meckel syndrome, type 4

Criteria Provided
Multiple Submitters
No Conflicts

CA658656314

rs_1555220638

3 SubmittersRCV000515679 RCV003470596 RCV004800425

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6711850

rs_369523378

11 SubmittersRCV000498458 RCV000687629 RCV001075395 RCV001271569 RCV001535842 RCV002248731 RCV002222534 RCV003464071

NM_201253.3(CRB1):c.1183G>T (p.Glu395Ter)

SNV
Germline

Chr1:197421011

Conflicting classifications of pathogenicity

Leber congenital amaurosis
Retinal dystrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
CRB1-related disorder

Criteria Provided
Conflicting Classifications

CA35893184

rs_369775002

5 SubmittersRCV000505025 RCV001074835 RCV001390794 RCV003476197 RCV004527614

NM_201253.3(CRB1):c.2129A>T (p.Glu710Val)

SNV
Germline

Chr1:197427454

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA1312059

rs_145282040

8 SubmittersRCV000504865 RCV001053730 RCV001275649 RCV001783005 RCV003449433 RCV003449434 RCV003449435

NM_201253.3(CRB1):c.2639A>G (p.Asn880Ser)

SNV
Germline

Chr1:197427964

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA35901203

rs_910489135

5 SubmittersRCV000504944 RCV001067848 RCV001376401 RCV001834627 RCV003476198

NM_201253.3(CRB1):c.2842+5G>A

SNV
Germline

Chr1:197429619

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA1312221

rs_773914330

7 SubmittersRCV000504958 RCV001250645 RCV001310547 RCV001857211 RCV003446102

NM_201253.3(CRB1):c.3676G>T (p.Gly1226Ter)

SNV
Germline

Chr1:197435539

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA1312374

rs_757740068

6 SubmittersRCV000504976 RCV001064730 RCV001275659 RCV003449440 RCV003228798 RCV003449439

NM_000329.3(RPE65):c.74C>T (p.Pro25Leu)

SNV
Germline

Chr1:68448644

Pathogenic

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

Reviewed By Expert Panel

CA902628

rs_199683808

10 SubmittersRCV000504723 RCV001250673 RCV001377674 RCV001724032 RCV001834621 RCV002496962 RCV004527379

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA141864468

rs_866395428

6 SubmittersRCV000624398 RCV000504935 RCV000505126 RCV001834629 RCV001382408

NM_020366.4(RPGRIP1):c.2398G>A (p.Glu800Lys)

SNV
Germline

Chr14:21325861

Pathogenic

Abnormality of the eye
Cone-rod dystrophy 13
Leber congenital amaurosis 6
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA7089253

rs_565837539

3 SubmittersRCV000504829 RCV001215982 RCV002230986

NM_020366.4(RPGRIP1):c.2941C>T (p.Arg981Ter)

SNV
Germline

Chr14:21328469

Pathogenic

Leber congenital amaurosis
Leber congenital amaurosis 1
Leber congenital amaurosis 6
Leber congenital amaurosis 6
Cone-rod dystrophy 13
Cone-rod dystrophy 13

Criteria Provided
Multiple Submitters
No Conflicts

CA7089380

rs_780667159

7 SubmittersRCV000504726 RCV000989177 RCV001261192 RCV001382205 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
Cone-rod dystrophy 2
Leber congenital amaurosis 7

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

Cone dystrophy
Leber congenital amaurosis 9

No Assertion Criteria Provided

rs_1271498710

2 SubmittersRCV000664187 RCV001372429

NM_025114.4(CEP290):c.1066-1G>A

SNV
Germline

Chr12:88125370

Pathogenic

not specified
Nephronophthisis
Familial aplasia of the vermis
Meckel-Gruber 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

CA241154824

rs_965522059

5 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

Criteria Provided
Conflicting Classifications

CA422808630

rs_780682072

2 SubmittersRCV000512803 RCV001482580

NM_000180.4(GUCY2D):c.74C>T (p.Ser25Phe)

SNV
Germline

Chr17:8003121

Conflicting classifications of pathogenicity

Condition: not provided
Progressive cone dystrophy (without rod involvement)
Cone-rod dystrophy 6
Leber congenital amaurosis 1
GUCY2D-related disorder

Criteria Provided
Conflicting Classifications

CA8365468

rs_557108466

4 SubmittersRCV000512972 RCV000787615 RCV001082983 RCV003915422

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385977034

rs_1555220625

6 SubmittersRCV000519595 RCV001058827 RCV003155226 RCV003470660 RCV002497033

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

Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis 2

Criteria Provided
Conflicting Classifications

CA340748948

rs_1553153597

2 SubmittersRCV000553292 RCV002287424

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6711506

rs_766670248

4 SubmittersRCV000555880 RCV001276485 RCV002491001 RCV003470742

NM_025114.4(CEP290):c.384T>C (p.Asp128=)

SNV
Germline

Chr12:88136700

Conflicting classifications of pathogenicity

Nephronophthisis
Meckel-Gruber syndrome
Familial aplasia of the vermis
Joubert syndrome 5
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
not specified
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA6712816

rs_76267039

4 SubmittersRCV000550067 RCV001112627 RCV001112629 RCV001112628 RCV001110659 RCV001110660 RCV001821528 RCV003889921

NM_025114.4(CEP290):c.6392A>G (p.Glu2131Gly)

SNV
Germline

Chr12:88060960

Conflicting classifications of pathogenicity

Nephronophthisis
Meckel-Gruber syndrome
Familial aplasia of the vermis
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Joubert syndrome 5
Meckel syndrome, type 4
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.180+1G>A

SNV
Germline

Chr12:88140955

Pathogenic/Likely pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Familial aplasia of the vermis
Leber congenital amaurosis
Condition: not provided
Retinitis pigmentosa
Meckel syndrome, type 4
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Joubert syndrome 5
Meckel syndrome, type 4

Criteria Provided
Multiple Submitters
No Conflicts

CA6712897

rs_758593134

7 SubmittersRCV000542843 RCV000787558 RCV001091342 RCV001199655 RCV002289749 RCV002497107

NM_000180.4(GUCY2D):c.2598G>C (p.Lys866Asn)

SNV
Germline

Chr17:8014880

Pathogenic

Cone-rod dystrophy 6
Leber congenital amaurosis 1
Cone-rod dystrophy 6
Leber congenital amaurosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA8366175

rs_201587670

3 SubmittersRCV000556412 RCV000989743 RCV001250816

NM_206933.4(USH2A):c.4957C>T (p.Arg1653Ter)

SNV
Germline

Chr1:216086749

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA1395583

rs_754768875

11 SubmittersRCV000578898 RCV000670513 RCV000787898 RCV000787731 RCV003889925 RCV003465286

NM_020366.4(RPGRIP1):c.1792C>T (p.Arg598Ter)

SNV
Germline

Chr14:21324647

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA7089094

rs_775935766

5 SubmittersRCV000578972 RCV001238568 RCV001800794 RCV003420017 RCV003226328

NM_152443.3(RDH12):c.250C>T (p.Arg84Ter)

SNV
Germline

Chr14:67725161

Pathogenic/Likely pathogenic

Condition: not provided
Leber congenital amaurosis 13
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA390148606

rs_1349849938

6 SubmittersRCV000578516 RCV001058196 RCV004817774

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

Conflicting classifications of pathogenicity

Leber congenital amaurosis with early-onset deafness
Condition: not provided

Criteria Provided
Conflicting Classifications

CA375756091

rs_1554786802

6 SubmittersRCV000584738 RCV001755979

NM_025114.4(CEP290):c.5012+2T>C

SNV
Germline

Chr12:88083029

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6711432

rs_760540562

7 SubmittersRCV000596012 RCV000636987 RCV002294351 RCV002282253 RCV002250666 RCV002506412 RCV003459464

NM_020366.4(RPGRIP1):c.74C>T (p.Pro25Leu)

SNV
Germline

Chr14:21288050

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7088535

rs_199590641

3 SubmittersRCV000598475 RCV001087237 RCV001800820 RCV001800819

NM_020366.4(RPGRIP1):c.1236G>A (p.Gln412=)

SNV
Germline

Chr14:21317780

Conflicting classifications of pathogenicity

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA7088985

rs_751342895

3 SubmittersRCV000592649 RCV001854022 RCV002282254

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
Nephronophthisis
Meckel-Gruber syndrome
Familial aplasia of the vermis
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
Leber congenital amaurosis 6
Cone-rod dystrophy 13
Leber congenital amaurosis 6
Cone-rod dystrophy 13

Criteria Provided
Multiple Submitters
No Conflicts

CA388869332

rs_1429786931

10 SubmittersRCV000597545 RCV001074918 RCV001261185 RCV001800828 RCV001389835

NM_000180.4(GUCY2D):c.2034C>T (p.Phe678=)

SNV
Germline

Chr17:8012527

Conflicting classifications of pathogenicity

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

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
Cone-rod dystrophy 13
Leber congenital amaurosis 6
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
Retinitis pigmentosa 12
Leber congenital amaurosis 8
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
Leber congenital amaurosis 1
Cone-rod dystrophy 6
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
Meckel syndrome, type 4
Joubert syndrome 5
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
CEP290-related disorder
Meckel-Gruber syndrome
Nephronophthisis
Familial aplasia of the vermis
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA385980064

rs_1170451277

5 SubmittersRCV000627200 RCV000763316 RCV000779118 RCV000814304 RCV003465363

NM_025114.4(CEP290):c.1523-1G>T

SNV
Germline

Chr12:88118744

Likely pathogenic

Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6712624

rs_776645403

8 SubmittersRCV000636983 RCV000763317 RCV001274130 RCV001356853 RCV003459522 RCV004732982

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
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinal dystrophy

Criteria Provided
Conflicting Classifications

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
RPE65-related recessive retinopathy
Condition: not provided

Reviewed By Expert Panel

rs_1169420841

4 SubmittersRCV000672144 RCV004801923 RCV004788098

NM_000329.3(RPE65):c.755T>C (p.Phe252Ser)

SNV
Germline

Chr1:68439294

Likely pathogenic

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

Reviewed By Expert Panel

rs_1553153135

5 SubmittersRCV000672055 RCV001549804 RCV004527392 RCV004768542

NM_000329.3(RPE65):c.718G>T (p.Val240Phe)

SNV
Germline

Chr1:68439568

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_192907397

4 SubmittersRCV001244442 RCV000754973 RCV003232070

NM_000329.3(RPE65):c.242G>T (p.Arg81Ile)

SNV
Germline

Chr1:68446713

Pathogenic

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

Reviewed By Expert Panel

rs_1429137932

6 SubmittersRCV000754977 RCV001053470 RCV001098873 RCV001098872 RCV001756143 RCV004527393

NM_152443.3(RDH12):c.524C>T (p.Ser175Leu)

SNV
Germline

Chr14:67727056

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_116733939

12 SubmittersRCV000754982 RCV000993755 RCV001584547 RCV004817913

NM_000329.3(RPE65):c.1399C>T (p.Pro467Ser)

SNV
Germline

Chr1:68431116

Pathogenic

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

Reviewed By Expert Panel

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

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

rs_554396590

2 SubmittersRCV000678628 RCV002532181

NM_000180.4(GUCY2D):c.2303G>A (p.Arg768Gln)

SNV
Germline

Chr17:8013919

Pathogenic/Likely pathogenic

Leber congenital amaurosis 1
Leber congenital amaurosis
Condition: not provided
Cone-rod dystrophy 6
Leber congenital amaurosis 1
POLR3-related leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_750889782

6 SubmittersRCV000678575 RCV001003041 RCV001784301 RCV003768027 RCV004760694

NM_000554.6(CRX):c.205C>T (p.Arg69Cys)

SNV
Germline

Chr19:47836347

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_771551785

4 SubmittersRCV000678552 RCV001074637 RCV002531393

NM_201253.3(CRB1):c.2548G>A (p.Gly850Ser)

SNV
Germline

Chr1:197427873

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_776591659

3 SubmittersRCV000684930 RCV001542641 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

rs_1566341956

1 SubmittersRCV000701424

NM_025114.4(CEP290):c.508A>T (p.Lys170Ter)

SNV
Germline

Chr12:88130553

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_772170760

6 SubmittersRCV000701688 RCV001073334 RCV001825379 RCV002499260 RCV002536346 RCV003465619

NM_020366.4(RPGRIP1):c.931-2A>G

SNV
Germline

Chr14:21311822

Likely pathogenic

Leber congenital amaurosis 6
Cone-rod dystrophy 13

Criteria Provided
Single Submitter

rs_374188857

1 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
RPGRIP1L-related disorder
Leber congenital amaurosis 6
Cone-rod dystrophy 13
RPGRIP1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_75459701

5 SubmittersRCV000686083 RCV000760501 RCV000779133 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

rs_1264794214

2 SubmittersRCV000696451

NM_014336.5(AIPL1):c.238C>T (p.Arg80Trp)

SNV
Germline

Chr17:6433957

Conflicting classifications of pathogenicity

Leber congenital amaurosis 4
Leber congenital amaurosis
not specified

Criteria Provided
Conflicting Classifications

rs_748210823

3 SubmittersRCV000685799 RCV001199638 RCV004526752

NM_000180.4(GUCY2D):c.2618C>G (p.Pro873Arg)

SNV
Germline

Chr17:8014900

Pathogenic

Night blindness, congenital stationary, type1i
Retinal dystrophy
Cone-rod dystrophy
Leber congenital amaurosis 1
Cone-rod dystrophy 6

Criteria Provided
Multiple Submitters
No Conflicts

rs_1567961680

4 SubmittersRCV002250683 RCV001074400 RCV002267739 RCV000697191

NM_000180.4(GUCY2D):c.3224+1G>C

SNV
Germline

Chr17:8016291

Pathogenic

Cone-rod dystrophy 6
Leber congenital amaurosis 1
Leber congenital amaurosis 1
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_757823463

3 SubmittersRCV000704819 RCV001729691 RCV004817943

NM_025114.4(CEP290):c.2479C>G (p.Leu827Val)

SNV
Germline

Chr12:88109070

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_201569048

7 SubmittersRCV000689950 RCV001115045 RCV001115042 RCV001115041 RCV001115043 RCV001115044 RCV001829910 RCV001756171 RCV002477547 RCV004026344 RCV004527741

NM_020366.4(RPGRIP1):c.2440C>T (p.Arg814Ter)

SNV
Germline

Chr14:21325903

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_759940113

6 SubmittersRCV000710047 RCV000762921 RCV000754600 RCV001724145 RCV001800862

NM_025114.4(CEP290):c.2251C>T (p.Arg751Ter)

SNV
Germline

Chr12:88111318

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_753884599

6 SubmittersRCV000710064 RCV001868322 RCV002493254 RCV003141716 RCV003465647 RCV004817947

NM_201253.3(CRB1):c.70+1G>A

SNV
Germline

Chr1:197268483

Pathogenic

Leber congenital amaurosis 8

Criteria Provided
Single Submitter

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

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

rs_1558133731

2 SubmittersRCV000754590 RCV002532969

NM_000329.3(RPE65):c.825C>G (p.Tyr275Ter)

SNV
Germline

Chr1:68439224

Pathogenic

Congenital isolated adrenocorticotropic hormone deficiency
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Retinitis pigmentosa
Leber congenital amaurosis 2
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_988133284

5 SubmittersRCV000754599 RCV001382566 RCV001731903 RCV004569407 RCV004817950

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

rs_771116776

1 SubmittersRCV000714540 RCV000714541

NM_000180.4(GUCY2D):c.2766C>G (p.Tyr922Ter)

SNV
Germline

Chr17:8015048

Pathogenic

Cone-rod dystrophy 6
Choroidal dystrophy, central areolar, 1
Leber congenital amaurosis 1

Criteria Provided
Single Submitter

rs_1006935198

1 SubmittersRCV000714545 RCV000714547 RCV000714546

NM_000180.4(GUCY2D):c.921C>T (p.Ala307=)

SNV
Germline

Chr17:8004051

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_148136213

4 SubmittersRCV000728314 RCV001088183 RCV001700453

NM_000329.3(RPE65):c.94+10G>A

SNV
Germline

Chr1:68448614

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_777879312

3 SubmittersRCV000729049 RCV001468497 RCV001825450

NM_000180.4(GUCY2D):c.2384G>A (p.Arg795Gln)

SNV
Germline

Chr17:8014000

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_61750171

4 SubmittersRCV000732735 RCV001250839 RCV003768224 RCV004817960

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

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 8
Retinitis pigmentosa 12
Leber congenital amaurosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_751691851

4 SubmittersRCV000755992 RCV001049610 RCV001825490 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

rs_775105018

3 SubmittersRCV000756220 RCV001078901 RCV004748961

NM_201253.3(CRB1):c.1084C>T (p.Gln362Ter)

SNV
Germline

Chr1:197356926

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_778627080

5 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

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

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

rs_1445892049

2 SubmittersRCV000762200 RCV002061033

NM_201253.3(CRB1):c.3997G>A (p.Glu1333Lys)

SNV
Germline

Chr1:197442284

Conflicting classifications of pathogenicity

Leber congenital amaurosis
Retinal dystrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12
not specified
CRB1-related disorder

Criteria Provided
Conflicting Classifications

rs_137853136

5 SubmittersRCV001825517 RCV001073728 RCV001201620 RCV003323720 RCV004527798

NM_020366.4(RPGRIP1):c.2662C>T (p.Arg888Ter)

SNV
Germline

Chr14:21326125

Conflicting classifications of pathogenicity

RPGRIP1L-related disorder
Leber congenital amaurosis 6
Cone-rod dystrophy 13
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1030149008

3 SubmittersRCV000779134 RCV001800879 RCV001800880 RCV001091752

NM_014336.5(AIPL1):c.985C>T (p.Gln329Ter)

SNV
Germline

Chr17:6425630

Conflicting classifications of pathogenicity

AIPL1-related disorder
Leber congenital amaurosis

Criteria Provided
Conflicting Classifications

rs_1208703297

2 SubmittersRCV000778508 RCV002509532

NM_014336.5(AIPL1):c.94C>T (p.Arg32Ter)

SNV
Germline

Chr17:6435011

Conflicting classifications of pathogenicity

AIPL1-related disorder
Leber congenital amaurosis 4

Criteria Provided
Conflicting Classifications

rs_139305531

2 SubmittersRCV000778509 RCV001390292

NM_201253.3(CRB1):c.2230C>T (p.Arg744Ter)

SNV
Germline

Chr1:197427555

Pathogenic/Likely pathogenic

Leber congenital amaurosis
Leber congenital amaurosis 8
Early-onset retinal dystrophy
Retinal dystrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_150412614

11 SubmittersRCV001002994 RCV001250600 RCV000786007 RCV001075564 RCV001869175 RCV003453619 RCV003453620

NM_201253.3(CRB1):c.2673C>A (p.Cys891Ter)

SNV
Germline

Chr1:197427998

Pathogenic

Early-onset retinal dystrophy
Leber congenital amaurosis 8
Condition: not provided

Criteria Provided
Single Submitter

rs_759662695

3 SubmittersRCV000786008 RCV001250630 RCV003141768

NM_022787.4(NMNAT1):c.205A>T (p.Met69Leu)

SNV
Germline

Chr1:9975681

Likely pathogenic

Leber congenital amaurosis 9

No Assertion Criteria Provided

rs_372066126

1 SubmittersRCV000787026

NM_201253.3(CRB1):c.1892A>G (p.Tyr631Cys)

SNV
Germline

Chr1:197421720

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1271816211

6 SubmittersRCV000787575 RCV000795927 RCV001250596 RCV001830677 RCV001766622

NM_201253.3(CRB1):c.3121A>G (p.Met1041Val)

SNV
Germline

Chr1:197434984

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_781705903

4 SubmittersRCV000787580 RCV001869189 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

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
Leber congenital amaurosis 13
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_368489658

5 SubmittersRCV000787671 RCV001830679 RCV001377219 RCV004818012

NM_014336.5(AIPL1):c.815G>C (p.Arg272Pro)

SNV
Unknown

Chr17:6425800

Pathogenic

Leber congenital amaurosis

No Assertion Criteria Provided

rs_1284009768

1 SubmittersRCV000787531

NM_014336.5(AIPL1):c.465G>T (p.Gln155His)

SNV
Germline

Chr17:6428318

Pathogenic/Likely pathogenic

Leber congenital amaurosis
Leber congenital amaurosis 4
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_758001091

4 SubmittersRCV000787530 RCV003485643 RCV004794454

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

Criteria Provided
Single Submitter

rs_1437021651

2 SubmittersRCV000787585 RCV001869190

NM_025114.4(CEP290):c.5587-1G>C

SNV
Germline

Chr12:88077345

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

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

rs_1571170561

3 SubmittersRCV000787882 RCV002535759 RCV004595858

NM_000883.4(IMPDH1):c.1598A>G (p.Gln533Arg)

SNV
Germline

Chr7:128394552

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Leber congenital amaurosis 11
Retinal dystrophy

Criteria Provided
Conflicting Classifications

rs_144498273

6 SubmittersRCV000878134 RCV000787840 RCV001159891 RCV004818020

NM_001346022.3(USP45):c.935G>A (p.Arg312Gln)

SNV
Germline

Chr6:99468617

Pathogenic

Leber congenital amaurosis 19

No Assertion Criteria Provided

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
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_748798324

3 SubmittersRCV000791169 RCV000791170 RCV000791168 RCV004818030

NM_201253.3(CRB1):c.2425C>T (p.Gln809Ter)

SNV
Germline

Chr1:197427750

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

rs_1571540037

1 SubmittersRCV000801518

NM_201253.3(CRB1):c.3037C>T (p.Gln1013Ter)

SNV
Germline

Chr1:197434900

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

rs_143511261

3 SubmittersRCV000817389 RCV001250612

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_763324776

3 SubmittersRCV000816727 RCV003446450 RCV003473495

NM_000329.3(RPE65):c.1205G>A (p.Trp402Ter)

SNV
Germline

Chr1:68431509

Pathogenic

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

Reviewed By Expert Panel

rs_774130993

8 SubmittersRCV000817537 RCV001089892 RCV001075233 RCV001593012 RCV001830793 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

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

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
Familial aplasia of the vermis
Nephronophthisis
Joubert syndrome 1
Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Joubert syndrome 5
Bardet-Biedl syndrome 14
Retinitis pigmentosa
CEP290-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_778030031

6 SubmittersRCV000815985 RCV000988881 RCV002495153 RCV003467476 RCV003324535 RCV004733054

NM_025114.4(CEP290):c.3802C>T (p.Gln1268Ter)

SNV
Germline

Chr12:88089259

Pathogenic

Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Leber congenital amaurosis
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

rs_1468942944

3 SubmittersRCV000823686 RCV001830822 RCV003467520

NM_025114.4(CEP290):c.1645C>T (p.Arg549Ter)

SNV
Germline

Chr12:88118549

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_760415289

9 SubmittersRCV000810414 RCV001091339 RCV001274127 RCV002487758 RCV003467439 RCV004733051 RCV004818045

NM_025114.4(CEP290):c.322C>T (p.Arg108Ter)

SNV
Germline

Chr12:88136762

Pathogenic

Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Night blindness
Leber congenital amaurosis
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
CEP290-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_1290241933

7 SubmittersRCV000810939 RCV001030763 RCV001274136 RCV001542774 RCV002290458 RCV004733052

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

rs_759408031

5 SubmittersRCV000797267 RCV001277204 RCV002267742 RCV003889988

NM_152443.3(RDH12):c.609C>A (p.Ser203Arg)

SNV
Germline

Chr14:67727141

Pathogenic/Likely pathogenic

Leber congenital amaurosis 13
Leber congenital amaurosis
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_753959716

5 SubmittersRCV000821787 RCV001830813 RCV004794462

NM_152443.3(RDH12):c.883C>T (p.Arg295Ter)

SNV
Germline

Chr14:67733780

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_200387832

8 SubmittersRCV001171676 RCV000811812 RCV000993757 RCV001074674

NM_001122769.3(LCA5):c.190+1G>A

SNV
Germline

Chr6:79518704

Likely pathogenic

Condition: not provided
Retinal dystrophy
Leber congenital amaurosis 5

Criteria Provided
Multiple Submitters
No Conflicts

rs_746351112

3 SubmittersRCV000792715 RCV001075221 RCV003467331

NM_004744.5(LRAT):c.40G>T (p.Glu14Ter)

SNV
Germline

Chr4:154744366

Likely pathogenic

Leber congenital amaurosis

Criteria Provided
Single Submitter

rs_768255532

1 SubmittersRCV000826116

NM_025114.4(CEP290):c.4805C>T (p.Thr1602Met)

SNV
Germline

Chr12:88083854

Conflicting classifications of pathogenicity

Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Meckel syndrome, type 4
Leber congenital amaurosis
Bardet-Biedl syndrome 14
Retinal dystrophy
CEP290-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_369451049

7 SubmittersRCV001244303 RCV001000093 RCV001830860 RCV003448352 RCV003889992 RCV004538167 RCV004029250

NM_000180.4(GUCY2D):c.1633C>T (p.Gln545Ter)

SNV
Germline

Chr17:8007997

Pathogenic

Leber congenital amaurosis 1
Night blindness, congenital stationary, type1i
GUCY2D-related disorder
Cone-rod dystrophy 6
Leber congenital amaurosis 1

Criteria Provided
Single Submitter

rs_1290420698

3 SubmittersRCV000850097 RCV000850098 RCV004726700 RCV003768615

NM_025114.4(CEP290):c.5164A>G (p.Thr1722Ala)

SNV
Germline

Chr12:88080244

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Familial aplasia of the vermis
Nephronophthisis
Leber congenital amaurosis
Joubert syndrome 5
Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6
Condition: not provided
CEP290-related disorder

Criteria Provided
Conflicting Classifications

rs_375817905

5 SubmittersRCV000862577 RCV001273060 RCV003227872 RCV003313158 RCV004538193

NM_025114.4(CEP290):c.2090C>G (p.Ala697Gly)

SNV
Germline

Chr12:88111821

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_200454865

7 SubmittersRCV000860704 RCV001111807 RCV001112276 RCV001111804 RCV001111805 RCV001111806 RCV001275033 RCV001546810 RCV004538174

NM_025114.4(CEP290):c.5421A>G (p.Thr1807=)

SNV
Germline

Chr12:88077862

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_370464321

3 SubmittersRCV000868428 RCV001114240 RCV001114242 RCV001112881 RCV001112880 RCV001114241 RCV001273057

NM_025114.4(CEP290):c.5127G>T (p.Gln1709His)

SNV
Germline

Chr12:88080281

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_757738553

4 SubmittersRCV000869753 RCV001110315 RCV001110316 RCV001110312 RCV001110314 RCV001110313 RCV004538287 RCV004797884

NM_025114.4(CEP290):c.2873C>T (p.Ser958Phe)

SNV
Germline

Chr12:88102956

Conflicting classifications of pathogenicity

Familial aplasia of the vermis
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
CEP290-related disorder

Criteria Provided
Conflicting Classifications

rs_546463648

4 SubmittersRCV000868237 RCV001113520 RCV001113516 RCV001113517 RCV001113518 RCV001113519 RCV001275027 RCV004540210

NM_025114.4(CEP290):c.2638G>T (p.Ala880Ser)

SNV
Germline

Chr12:88106854

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_147362398

6 SubmittersRCV000864755 RCV001111623 RCV001111624 RCV001111620 RCV001111621 RCV001111622 RCV001275029 RCV002294390 RCV003889993 RCV004538226

NM_004744.5(LRAT):c.611C>T (p.Ala204Val)

SNV
Germline

Chr4:154749054

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 14

Criteria Provided
Conflicting Classifications

rs_144754979

3 SubmittersRCV000877819 RCV003132118

NM_001122769.3(LCA5):c.1642C>T (p.Pro548Ser)

SNV
Germline

Chr6:79487456

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 5

Criteria Provided
Conflicting Classifications

rs_185347145

3 SubmittersRCV000878192 RCV001158868

NM_001122769.3(LCA5):c.902G>A (p.Arg301His)

SNV
Germline

Chr6:79492604

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 5
Leber congenital amaurosis
LCA5-related disorder

Criteria Provided
Conflicting Classifications

rs_139142572

5 SubmittersRCV000878502 RCV001160207 RCV001272075 RCV004753064

NM_001122769.3(LCA5):c.338A>G (p.Asn113Ser)

SNV
Germline

Chr6:79513594

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 5
Leber congenital amaurosis
LCA5-related disorder

Criteria Provided
Conflicting Classifications

rs_181890907

4 SubmittersRCV000878319 RCV001001709 RCV001272080 RCV004753063

NM_000883.4(IMPDH1):c.1142A>G (p.His381Arg)

SNV
Germline

Chr7:128396955

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Leber congenital amaurosis 11
Retinal dystrophy

Criteria Provided
Conflicting Classifications

rs_61751223

5 SubmittersRCV000877808 RCV001162852 RCV001162853 RCV004818072

NM_001001557.4(GDF6):c.112G>C (p.Gly38Arg)

SNV
Germline

Chr8:96160581

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_139075817

7 SubmittersRCV000878637 RCV001168053 RCV001255225 RCV001358275 RCV003955779

NM_001001557.4(GDF6):c.24C>G (p.Leu8=)

SNV
Germline

Chr8:96160669

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_369859861

3 SubmittersRCV000878606 RCV001168054 RCV003432863

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

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

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

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

Criteria Provided
Conflicting Classifications

rs_200379694

3 SubmittersRCV000951452 RCV001099307 RCV001099306 RCV001099308 RCV001271902

NM_001164688.2(RD3):c.519G>A (p.Val173=)

SNV
Germline

Chr1:211479105

Conflicting classifications of pathogenicity

Leber congenital amaurosis 12
Retinal dystrophy

Criteria Provided
Conflicting Classifications

rs_139419737

3 SubmittersRCV000952416 RCV004818087

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

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

rs_752875512

3 SubmittersRCV000952170 RCV001102428 RCV001102429 RCV001836036

NM_000329.3(RPE65):c.102C>A (p.Ile34=)

SNV
Germline

Chr1:68446853

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_146357166

3 SubmittersRCV000949153 RCV001100686 RCV001084737 RCV001100685

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

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

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
Retinitis pigmentosa
Leber congenital amaurosis 11
not specified
Retinal dystrophy

Criteria Provided
Conflicting Classifications

rs_150531977

5 SubmittersRCV000951821 RCV001160000 RCV001159999 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

rs_143796089

4 SubmittersRCV000945885 RCV001165040 RCV001165039 RCV004735905

NM_020366.4(RPGRIP1):c.2550G>A (p.Gln850=)

SNV
Germline

Chr14:21326013

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_200268506

3 SubmittersRCV000951483 RCV001111272 RCV001111271

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

Criteria Provided
Conflicting Classifications

rs_201838837

5 SubmittersRCV000945648 RCV001701368 RCV001727824 RCV001109014 RCV001109015

NM_152443.3(RDH12):c.806C>G (p.Ala269Gly)

SNV
Germline

Chr14:67729338

Conflicting classifications of pathogenicity

Leber congenital amaurosis 13
Leber congenital amaurosis
Retinal dystrophy

Criteria Provided
Conflicting Classifications

rs_116802390

5 SubmittersRCV000945760 RCV003230606 RCV001073956

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

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

rs_34331388

4 SubmittersRCV000945910 RCV001811545 RCV004749555 RCV004029774

NM_201253.3(CRB1):c.161G>T (p.Cys54Phe)

SNV
Germline

Chr1:197328512

Conflicting classifications of pathogenicity

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Retinitis pigmentosa
CRB1-related disorder

Criteria Provided
Conflicting Classifications

rs_140428156

3 SubmittersRCV000964696 RCV001100910 RCV001100639 RCV001100909 RCV004543616

NM_201253.3(CRB1):c.2874C>T (p.Ser958=)

SNV
Germline

Chr1:197434737

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_372778560

3 SubmittersRCV001097541 RCV001097542 RCV001271900 RCV000964760 RCV001099305

NM_003322.6(TULP1):c.603G>A (p.Gly201=)

SNV
Germline

Chr6:35509749

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Leber congenital amaurosis 15

Criteria Provided
Conflicting Classifications

rs_117920214

3 SubmittersRCV000960806 RCV001157949 RCV001157950

NM_000329.3(RPE65):c.1154C>T (p.Thr385Met)

SNV
Germline

Chr1:68431560

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_201379753

5 SubmittersRCV000884725 RCV001098674 RCV001098673 RCV003890011 RCV004530925

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

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

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

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

rs_371312060

3 SubmittersRCV000879291 RCV001114452 RCV001114453

NM_000180.4(GUCY2D):c.1750-7C>G

SNV
Germline

Chr17:8012137

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

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

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

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

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

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

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

rs_777211540

2 SubmittersRCV000912094 RCV001102319 RCV001102320

NM_000329.3(RPE65):c.95-10T>A

SNV
Germline

Chr1:68446870

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_547374432

4 SubmittersRCV001100688 RCV000926497 RCV001100687 RCV001729747

NM_025114.4(CEP290):c.6358-5C>T

SNV
Germline

Chr12:88060999

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_372986399

4 SubmittersRCV000915534 RCV001110040 RCV001110041 RCV001110042 RCV001110043 RCV001272014 RCV001114082 RCV004533513

NM_000329.3(RPE65):c.1430A>G (p.Asp477Gly)

SNV
Germline

Chr1:68431085

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1571158279

7 SubmittersRCV001074701 RCV000927801 RCV001034696 RCV001068036 RCV001376263 RCV002279647 RCV003117646

NM_000329.3(RPE65):c.375A>G (p.Gly125=)

SNV
Germline

Chr1:68444651

Conflicting classifications of pathogenicity

Retinitis pigmentosa 20
Leber congenital amaurosis 2
Retinitis pigmentosa
Leber congenital amaurosis 2
Leber congenital amaurosis
Retinal dystrophy

Criteria Provided
Conflicting Classifications

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

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

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

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

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
NMNAT1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_202057799

4 SubmittersRCV000981705 RCV002550566 RCV003962951 RCV004711489

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

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

rs_1571848855

1 SubmittersRCV000986482

NM_201253.3(CRB1):c.984G>A (p.Trp328Ter)

SNV
Germline

Chr1:197347475

Pathogenic

Leber congenital amaurosis 8
Leber congenital amaurosis 1
Condition: not provided
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Multiple Submitters
No Conflicts

rs_1571878277

4 SubmittersRCV003454997 RCV000986486 RCV005001126 RCV001858643 RCV003454996

NM_201253.3(CRB1):c.1633T>C (p.Ser545Pro)

SNV
Germline

Chr1:197421461

Likely pathogenic

Leber congenital amaurosis 1
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Multiple Submitters
No Conflicts

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

rs_1571525145

1 SubmittersRCV000986490

NM_201253.3(CRB1):c.3653G>A (p.Cys1218Tyr)

SNV
Germline

Chr1:197435516

Pathogenic/Likely pathogenic

Leber congenital amaurosis 1
Condition: not provided
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12
not specified

Criteria Provided
Multiple Submitters
No Conflicts

rs_1450635782

5 SubmittersRCV000986496 RCV001726405 RCV001824163 RCV001858644 RCV003331014

NM_201253.3(CRB1):c.3961T>G (p.Cys1321Gly)

SNV
Germline

Chr1:197442248

Likely pathogenic

Leber congenital amaurosis 1
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Multiple Submitters
No Conflicts

rs_62635649

7 SubmittersRCV000986497 RCV001809876 RCV002489456 RCV003455006 RCV003455005 RCV003769294

NM_000329.3(RPE65):c.1583G>T (p.Gly528Val)

SNV
Germline

Chr1:68429795

Pathogenic/Likely pathogenic

Leber congenital amaurosis 2

Criteria Provided
Multiple Submitters
No Conflicts

rs_1193631220

3 SubmittersRCV000986326

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

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

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

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

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

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
Condition: not provided
Leber congenital amaurosis 14

Criteria Provided
Conflicting Classifications

rs_1578860322

3 SubmittersRCV000987484 RCV001858669 RCV002250709

NM_006017.3(PROM1):c.1984-1G>T

SNV
Germline

Chr4:15989825

Pathogenic

Retinitis pigmentosa 41
Condition: not provided
Stargardt disease
Cone-rod dystrophy
Leber congenital amaurosis
PROM1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_373680665

6 SubmittersRCV000987420 RCV001049161 RCV002467454 RCV003324540 RCV003324541 RCV004536013

NM_006017.3(PROM1):c.784+1G>A

SNV
Germline

Chr4:16023325

Pathogenic/Likely pathogenic

Retinitis pigmentosa 41
Retinal dystrophy
Condition: not provided
Stargardt disease
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

rs_745704627

5 SubmittersRCV000987424 RCV001075553 RCV001047807 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

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

Criteria Provided
Conflicting Classifications

rs_1313593155

3 SubmittersRCV000987687 RCV001074965 RCV001240687

NM_003322.6(TULP1):c.931C>T (p.Arg311Trp)

SNV
Germline

Chr6:35506071

Conflicting classifications of pathogenicity

Leber congenital amaurosis 1
Condition: not provided
Retinitis pigmentosa 14
not specified
Leber congenital amaurosis 15
Retinitis pigmentosa 14

Criteria Provided
Conflicting Classifications

rs_373519519

5 SubmittersRCV000987688 RCV001301120 RCV001809877 RCV002271603 RCV004796336

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

rs_1178243254

3 SubmittersRCV000987743 RCV001869350 RCV003473531

NM_020366.4(RPGRIP1):c.800G>A (p.Arg267Gln)

SNV
Germline

Chr14:21303543

Conflicting classifications of pathogenicity

Leber congenital amaurosis 1
Leber congenital amaurosis 6
Cone-rod dystrophy 13

Criteria Provided
Conflicting Classifications

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_376500610

5 SubmittersRCV000989170 RCV000995111 RCV001228179 RCV001800907 RCV001800908 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

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

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

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

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

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
Condition: not provided
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

rs_766631462

10 SubmittersRCV000993753 RCV001091052 RCV001003153

NM_152443.3(RDH12):c.619A>G (p.Asn207Asp)

SNV
Germline

Chr14:67727151

Pathogenic/Likely pathogenic

Macular dystrophy
Leber congenital amaurosis 13
RDH12-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_745871149

5 SubmittersRCV000993749 RCV001255717 RCV004735926

NM_201253.3(CRB1):c.2687G>A (p.Cys896Tyr)

SNV
Germline

Chr1:197429459

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1571544334

6 SubmittersRCV001199673 RCV003769329 RCV003455016 RCV000994218 RCV004800653

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

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

rs_1182277140

3 SubmittersRCV000998655 RCV003467560

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

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

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
Leber congenital amaurosis 1
Cone-rod dystrophy 6

Criteria Provided
Multiple Submitters
No Conflicts

rs_61750173

3 SubmittersRCV001002057 RCV001075542 RCV001869428

NM_201253.3(CRB1):c.455G>A (p.Cys152Tyr)

SNV
Germline

Chr1:197328806

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1571848744

4 SubmittersRCV001074569 RCV001377780 RCV003455043 RCV001002988 RCV003455044

NM_201253.3(CRB1):c.1733T>A (p.Val578Glu)

SNV
Germline

Chr1:197421561

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1266363944

3 SubmittersRCV001002992 RCV001376464 RCV002549196

NM_201253.3(CRB1):c.1844G>T (p.Gly615Val)

SNV
Germline

Chr1:197421672

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_768905244

5 SubmittersRCV001002993 RCV001860526 RCV001593178 RCV003455045 RCV003455046

NM_201253.3(CRB1):c.2498G>A (p.Gly833Asp)

SNV
Germline

Chr1:197427823

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

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

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

rs_1581736099

2 SubmittersRCV001003239 RCV003558630

NM_001122769.3(LCA5):c.1171A>T (p.Lys391Ter)

SNV
Germline

Chr6:79489144

Pathogenic

Leber congenital amaurosis

No Assertion Criteria Provided

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
Familial aplasia of the vermis

Criteria Provided
Multiple Submitters
No Conflicts

rs_1588830568

4 SubmittersRCV001003058 RCV001376300 RCV002282421 RCV002549199

NM_025114.4(CEP290):c.5788A>T (p.Lys1930Ter)

SNV
Germline

Chr12:88071848

Pathogenic

Leber congenital amaurosis
Nephronophthisis
Familial aplasia of the vermis
Meckel-Gruber syndrome
Retinal dystrophy
Joubert syndrome 5
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

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

rs_1371805993

2 SubmittersRCV001003210 RCV001862727

NM_014336.5(AIPL1):c.215G>A (p.Trp72Ter)

SNV
Germline

Chr17:6433980

Pathogenic

Leber congenital amaurosis 4
Leber congenital amaurosis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1468041544

3 SubmittersRCV001380823 RCV001002864 RCV003226992

NM_014336.5(AIPL1):c.211G>T (p.Val71Phe)

SNV
Germline

Chr17:6433984

Pathogenic

Leber congenital amaurosis 4
Leber congenital amaurosis

Criteria Provided
Single Submitter

rs_775364986

3 SubmittersRCV001172386 RCV001002865

NM_000180.4(GUCY2D):c.1992T>G (p.His664Gln)

SNV
Germline

Chr17:8012485

Pathogenic

Leber congenital amaurosis

No Assertion Criteria Provided

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

rs_781725943

1 SubmittersRCV001003040

NM_000180.4(GUCY2D):c.2538G>C (p.Lys846Asn)

SNV
Germline

Chr17:8014726

Pathogenic

Leber congenital amaurosis 1
Cone-rod dystrophy 6
Cone-rod dystrophy

Criteria Provided
Single Submitter

rs_1598150539

2 SubmittersRCV001860527 RCV002267758

NM_201253.3(CRB1):c.4005+1G>A

SNV
Germline

Chr1:197442293

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_890453675

6 SubmittersRCV001003000 RCV004818140 RCV002549197 RCV001250622

NM_004928.3(CFAP410):c.643-2A>G

SNV
Germline

Chr21:44330328

Pathogenic

Leber congenital amaurosis

No Assertion Criteria Provided

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

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

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

rs_62653015

3 SubmittersRCV001199757 RCV004527406 RCV003769401

NM_022787.4(NMNAT1):c.629T>C (p.Ile210Thr)

SNV
Germline

Chr1:9982490

Pathogenic

Leber congenital amaurosis

Criteria Provided
Single Submitter

rs_1641970512

1 SubmittersRCV001199715

NM_022787.4(NMNAT1):c.680G>A (p.Arg227Gln)

SNV
Germline

Chr1:9982541

Conflicting classifications of pathogenicity

Retinal dystrophy
Cone-rod dystrophy
Leber congenital amaurosis 9

Criteria Provided
Conflicting Classifications

rs_751644763

3 SubmittersRCV001073398 RCV001199714 RCV001862732

NM_000883.4(IMPDH1):c.71G>C (p.Arg24Pro)

SNV
Germline

Chr7:128409831

Conflicting classifications of pathogenicity

Leber congenital amaurosis 11
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_946898300

3 SubmittersRCV001158325 RCV001158326 RCV001305635

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

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

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

Criteria Provided
Multiple Submitters
No Conflicts

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

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

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

rs_1325103400

1 SubmittersRCV001005014

NM_003322.6(TULP1):c.901C>T (p.Gln301Ter)

SNV
Germline

Chr6:35506101

Pathogenic

Retinitis pigmentosa 14
Leber congenital amaurosis
Condition: not provided
Abnormality of the eye
Autosomal recessive retinitis pigmentosa
Leber congenital amaurosis 15

Criteria Provided
Multiple Submitters
No Conflicts

rs_201070350

8 SubmittersRCV001028029 RCV001251337 RCV001054314 RCV001814258 RCV001257786 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

Criteria Provided
Multiple Submitters
No Conflicts

rs_768445391

4 SubmittersRCV001029769 RCV001073324 RCV001208105 RCV001836068

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

SNV
Germline

Chr12:88139144

Pathogenic

Leber congenital amaurosis 10
Nephronophthisis
Familial aplasia of the vermis
Meckel-Gruber 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

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

rs_1594865064

1 SubmittersRCV001029918

NM_201253.3(CRB1):c.490C>T (p.Gln164Ter)

SNV
Germline

Chr1:197328841

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

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

Criteria Provided
Single Submitter

rs_1658688864

1 SubmittersRCV001047854

NM_201253.3(CRB1):c.1136C>G (p.Ser379Ter)

SNV
Germline

Chr1:197356978

Pathogenic/Likely pathogenic

Leber congenital amaurosis 8
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Multiple Submitters
No Conflicts

rs_1660516364

2 SubmittersRCV003473646 RCV001052034

NM_201253.3(CRB1):c.2054G>T (p.Gly685Val)

SNV
Germline

Chr1:197421882

Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

rs_748175297

1 SubmittersRCV001044718

NM_201253.3(CRB1):c.2300T>C (p.Leu767Pro)

SNV
Germline

Chr1:197427625

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1451348539

6 SubmittersRCV001074779 RCV001827256 RCV001042149 RCV003455171 RCV003455172 RCV004768801 RCV003455170

NM_201253.3(CRB1):c.2570T>G (p.Leu857Arg)

SNV
Germline

Chr1:197427895

Conflicting classifications of pathogenicity

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Retinitis pigmentosa 12
not specified

Criteria Provided
Conflicting Classifications

rs_1664678030

3 SubmittersRCV001038213 RCV001376351 RCV004587017

NM_201253.3(CRB1):c.3014A>T (p.Asp1005Val)

SNV
Germline

Chr1:197434877

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_369184026

6 SubmittersRCV001049924 RCV001073588 RCV001250611 RCV001832464 RCV003455213 RCV003455212

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

rs_1665086143

1 SubmittersRCV001058927

NM_201253.3(CRB1):c.3488G>T (p.Cys1163Phe)

SNV
Germline

Chr1:197435351

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

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
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1665487563

3 SubmittersRCV001044149 RCV003455181 RCV003455182 RCV001531025

NM_201253.3(CRB1):c.4207G>C (p.Glu1403Gln)

SNV
Germline

Chr1:197477865

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

rs_1667269806

2 SubmittersRCV001065861 RCV003473688

NM_000329.3(RPE65):c.1445A>G (p.Asp482Gly)

SNV
Germline

Chr1:68431070

Conflicting classifications of pathogenicity

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_749242996

2 SubmittersRCV001054425 RCV001559438

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

Reviewed By Expert Panel

rs_34627040

4 SubmittersRCV001054822 RCV001250697 RCV001827346 RCV004527410

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

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

rs_375110174

4 SubmittersRCV001048869 RCV001073738

NM_003322.6(TULP1):c.1199G>A (p.Arg400Gln)

SNV
Germline

Chr6:35503762

Pathogenic

Condition: not provided
Leber congenital amaurosis 15
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

rs_748972748

4 SubmittersRCV001057548 RCV001255927 RCV004587030

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

rs_1766524422

2 SubmittersRCV001045145 RCV003467738

NM_001122769.3(LCA5):c.103C>T (p.Arg35Ter)

SNV
Germline

Chr6:79518792

Pathogenic/Likely pathogenic

Leber congenital amaurosis 5
Retinal dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_748370008

6 SubmittersRCV001257103 RCV004813601 RCV001046883

NM_001001557.4(GDF6):c.815C>T (p.Pro272Leu)

SNV
Germline

Chr8:96145116

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

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
Leber congenital amaurosis 17
Isolated microphthalmia 4
Microphthalmia, isolated, with coloboma 6
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_368498747

3 SubmittersRCV001070415 RCV004030747 RCV004693583

NM_025114.4(CEP290):c.2306T>C (p.Ile769Thr)

SNV
Germline

Chr12:88111263

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_199583200

5 SubmittersRCV001057249 RCV001111727 RCV001111723 RCV001111725 RCV001111724 RCV001111726 RCV001562596 RCV001832517 RCV004536115

NM_025114.4(CEP290):c.1627G>T (p.Glu543Ter)

SNV
Germline

Chr12:88118567

Pathogenic

Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Bardet-Biedl syndrome 14
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

rs_1186821575

3 SubmittersRCV001047416 RCV003467750 RCV001832446

NM_025114.4(CEP290):c.367C>T (p.Gln123Ter)

SNV
Germline

Chr12:88136717

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_770126103

5 SubmittersRCV001058714 RCV001832529 RCV002497434 RCV003462577 RCV003228800

NM_020366.4(RPGRIP1):c.1892A>G (p.His631Arg)

SNV
Germline

Chr14:21324747

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_535922252

3 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

rs_761231974

6 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

rs_752242512

5 SubmittersRCV001036749 RCV001091053 RCV001827217

NM_152443.3(RDH12):c.437T>A (p.Val146Asp)

SNV
Germline

Chr14:67726144

Pathogenic

Leber congenital amaurosis 13
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

rs_116649873

4 SubmittersRCV001043608 RCV001277203

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

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

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

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

rs_374255033

1 SubmittersRCV001052372

NM_000180.4(GUCY2D):c.1147C>T (p.Arg383Trp)

SNV
Germline

Chr17:8006483

Conflicting classifications of pathogenicity

Leber congenital amaurosis 1
Cone-rod dystrophy 6
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_545271894

2 SubmittersRCV001040345 RCV004031136

NM_000180.4(GUCY2D):c.1573C>T (p.Gln525Ter)

SNV
Germline

Chr17:8007937

Pathogenic

Cone-rod dystrophy 6
Leber congenital amaurosis 1

Criteria Provided
Single Submitter

rs_1168076308

1 SubmittersRCV001068217

NM_000180.4(GUCY2D):c.2179G>A (p.Gly727Ser)

SNV
Germline

Chr17:8013168

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
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

rs_146820642

7 SubmittersRCV001065277 RCV002497460 RCV001700693 RCV004813685

NM_000180.4(GUCY2D):c.2281C>T (p.Arg761Trp)

SNV
Germline

Chr17:8013897

Conflicting classifications of pathogenicity

Cone-rod dystrophy 6
Leber congenital amaurosis 1
Night blindness, congenital stationary, type1i
Retinal dystrophy

Criteria Provided
Conflicting Classifications

rs_200637525

3 SubmittersRCV001059685 RCV002290577 RCV004813659

NM_000180.4(GUCY2D):c.2988C>G (p.Tyr996Ter)

SNV
Germline

Chr17:8015786

Pathogenic

Cone-rod dystrophy 6
Leber congenital amaurosis 1

Criteria Provided
Single Submitter

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

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_749738655

6 SubmittersRCV001075179 RCV001071559 RCV001352999 RCV003318660

NM_000554.6(CRX):c.766C>T (p.Gln256Ter)

SNV
Germline

Chr19:47839833

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1968173024

2 SubmittersRCV001067544 RCV002249668

NM_201253.3(CRB1):c.70+2T>A

SNV
Germline

Chr1:197268484

Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

rs_1654723466

1 SubmittersRCV001045412

NM_201253.3(CRB1):c.4006-10A>G

SNV
Germline

Chr1:197477654

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_766850702

8 SubmittersRCV001074118 RCV003473660 RCV001056224 RCV001197156 RCV001376226

NM_152443.3(RDH12):c.448+1G>C

SNV
Germline

Chr14:67726156

Pathogenic

Leber congenital amaurosis 13

Criteria Provided
Multiple Submitters
No Conflicts

rs_781331005

2 SubmittersRCV001043928

NM_020366.4(RPGRIP1):c.2367+1G>A

SNV
Germline

Chr14:21325384

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1882968821

2 SubmittersRCV001054263 RCV004726837

NM_000554.6(CRX):c.101-1G>T

SNV
Germline

Chr19:47836242

Pathogenic

Leber congenital amaurosis 7
Cone-rod dystrophy 2

Criteria Provided
Single Submitter

rs_1968115710

1 SubmittersRCV001063855

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

SNV
Germline

Chr12:88118575

Conflicting classifications of pathogenicity

Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Leber congenital amaurosis
Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6
Joubert syndrome 5

Criteria Provided
Conflicting Classifications

rs_142742071

3 SubmittersRCV001064972 RCV001827420 RCV002468139

NM_025114.4(CEP290):c.1189+1G>A

SNV
Germline

Chr12:88125245

Pathogenic

Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Leber congenital amaurosis
Bardet-Biedl syndrome 14
Joubert syndrome 5
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

rs_2039659434

4 SubmittersRCV001063723 RCV001274129 RCV001814265 RCV003467821

NM_201253.3(CRB1):c.547T>C (p.Cys183Arg)

SNV
Germline

Chr1:197328898

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1658691162

3 SubmittersRCV001074004 RCV001353026 RCV001862532

NM_201253.3(CRB1):c.1046A>T (p.Gln349Leu)

SNV
Germline

Chr1:197356888

Conflicting classifications of pathogenicity

Retinal dystrophy
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Conflicting Classifications

rs_148551147

2 SubmittersRCV001074490 RCV002069579

NM_201253.3(CRB1):c.1125C>G (p.Tyr375Ter)

SNV
Germline

Chr1:197356967

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1660515780

3 SubmittersRCV001075076 RCV002554741 RCV003455393 RCV003455395 RCV003455394

NM_201253.3(CRB1):c.1348T>C (p.Cys450Arg)

SNV
Germline

Chr1:197421176

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1664290387

3 SubmittersRCV001073402 RCV002554660 RCV003455314 RCV003455315 RCV003455313

NM_201253.3(CRB1):c.1429G>A (p.Gly477Arg)

SNV
Germline

Chr1:197421257

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_866822473

7 SubmittersRCV001075147 RCV001205896 RCV001257860 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
Retinitis pigmentosa 12
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

rs_963201816

3 SubmittersRCV001075152 RCV002557921 RCV003455402 RCV003455404 RCV003455403

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

rs_766411096

2 SubmittersRCV001074301 RCV003473703

NM_201253.3(CRB1):c.2497G>C (p.Gly833Arg)

SNV
Germline

Chr1:197427822

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1664671663

3 SubmittersRCV001074122 RCV002554698 RCV003455343 RCV003455345 RCV003455344

NM_201253.3(CRB1):c.3451G>T (p.Gly1151Ter)

SNV
Germline

Chr1:197435314

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1558138741

3 SubmittersRCV001074865 RCV001862578 RCV003455381 RCV003455382 RCV003455380

NM_201253.3(CRB1):c.3653G>T (p.Cys1218Phe)

SNV
Germline

Chr1:197435516

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1450635782

3 SubmittersRCV001075199 RCV001862600 RCV003455406 RCV003455407 RCV003455405

NM_201253.3(CRB1):c.3991C>T (p.Arg1331Cys)

SNV
Germline

Chr1:197442278

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_760544654

6 SubmittersRCV001073526 RCV001378742 RCV003455324 RCV003455325 RCV003455326 RCV001092289 RCV001696228

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

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

Reviewed By Expert Panel

rs_1444234037

4 SubmittersRCV001073555 RCV001089888 RCV002554669 RCV004801929

NM_022787.4(NMNAT1):c.293T>G (p.Val98Gly)

SNV
Germline

Chr1:9975769

Pathogenic/Likely pathogenic

Retinal dystrophy
Leber congenital amaurosis 9
Condition: not provided
Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

rs_771336246

5 SubmittersRCV001074108 RCV001256659 RCV001551709 RCV002221606

NM_003322.6(TULP1):c.1318C>T (p.Arg440Ter)

SNV
Germline

Chr6:35503564

Pathogenic/Likely pathogenic

Retinal dystrophy
Leber congenital amaurosis 15
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_751589956

4 SubmittersRCV001075390 RCV001255932 RCV001386010

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

rs_1331834680

3 SubmittersRCV001075606 RCV001255923 RCV001862625

NM_025114.4(CEP290):c.2414T>C (p.Leu805Pro)

SNV
Germline

Chr12:88109135

Pathogenic/Likely pathogenic

Retinal dystrophy
Meckel-Gruber syndrome
Nephronophthisis
Familial aplasia of the vermis
Leber congenital amaurosis
Bardet-Biedl syndrome 14
Meckel syndrome, type 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_762633090

5 SubmittersRCV001075311 RCV001243657 RCV001836118 RCV003469278 RCV003331040

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
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_765914942

5 SubmittersRCV001075651 RCV001243650 RCV001833694 RCV002222667 RCV003117741

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

rs_747257567

4 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

rs_761167763

5 SubmittersRCV001075351 RCV001212314 RCV003324554

NM_152443.3(RDH12):c.599A>G (p.Tyr200Cys)

SNV
Germline

Chr14:67727131

Pathogenic

Retinal dystrophy
Leber congenital amaurosis 13

Criteria Provided
Single Submitter

rs_1163040913

2 SubmittersRCV001075659 RCV001255716

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

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

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

rs_140257538

4 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

rs_751589863

3 SubmittersRCV001073667 RCV002557895

NM_014336.5(AIPL1):c.190G>A (p.Gly64Arg)

SNV
Germline

Chr17:6434005

Likely pathogenic

Retinal dystrophy
Leber congenital amaurosis 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_776024427

2 SubmittersRCV001075646 RCV001376195

NM_000180.4(GUCY2D):c.343T>C (p.Ser115Pro)

SNV
Germline

Chr17:8003390

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

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
Leber congenital amaurosis 1
Cone-rod dystrophy 6

Criteria Provided
Conflicting Classifications

rs_563208176

2 SubmittersRCV001073761 RCV003768992

NM_000180.4(GUCY2D):c.2182G>A (p.Asp728Asn)

SNV
Germline

Chr17:8013171

Conflicting classifications of pathogenicity

Retinal dystrophy
Leber congenital amaurosis 1
Cone-rod dystrophy 6
not specified

Criteria Provided
Conflicting Classifications

rs_766646217

3 SubmittersRCV001074405 RCV001862558 RCV004702630

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

rs_149866657

2 SubmittersRCV001074481 RCV003768996

NM_000180.4(GUCY2D):c.2492T>C (p.Leu831Pro)

SNV
Germline

Chr17:8014680

Conflicting classifications of pathogenicity

Retinal dystrophy
Leber congenital amaurosis 1
Cone-rod dystrophy 6

Criteria Provided
Conflicting Classifications

rs_1975925973

3 SubmittersRCV001074379 RCV001862557

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

rs_1975936032

2 SubmittersRCV001073425 RCV001862804

NM_000180.4(GUCY2D):c.3271C>T (p.Arg1091Ter)

SNV
Germline

Chr17:8016489

Conflicting classifications of pathogenicity

Retinal dystrophy
Leber congenital amaurosis 1
Cone-rod dystrophy 6

Criteria Provided
Conflicting Classifications

rs_769818541

2 SubmittersRCV001073763 RCV001388270

NM_201253.3(CRB1):c.653-1G>T

SNV
Germline

Chr1:197344280

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_760287363

5 SubmittersRCV001074781 RCV001593255 RCV001862575 RCV003446610 RCV003446611

NM_000329.3(RPE65):c.1380G>A (p.Trp460Ter)

SNV
Germline

Chr1:68431135

Pathogenic

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

Reviewed By Expert Panel

rs_1645823028

4 SubmittersRCV001089890 RCV001201914 RCV002511032 RCV003769013

NM_000329.3(RPE65):c.1328T>C (p.Val443Ala)

SNV
Germline

Chr1:68431292

Likely pathogenic

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

Reviewed By Expert Panel

rs_1645824187

4 SubmittersRCV001089891 RCV001102321 RCV001862663 RCV003769014

NM_000329.3(RPE65):c.484A>C (p.Thr162Pro)

SNV
Germline

Chr1:68444542

Likely pathogenic

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

Reviewed By Expert Panel

rs_774309607

3 SubmittersRCV001089896 RCV001206190 RCV004801930

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

rs_1015895028

2 SubmittersRCV001089893 RCV004595861

NM_201253.3(CRB1):c.407G>A (p.Cys136Tyr)

SNV
Germline

Chr1:197328758

Pathogenic/Likely pathogenic

Condition: not provided
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

rs_752559648

3 SubmittersRCV001091027 RCV003473709

NM_201253.3(CRB1):c.2171A>G (p.Tyr724Cys)

SNV
Germline

Chr1:197427496

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_765676754

6 SubmittersRCV001092287 RCV001380407 RCV003455432 RCV003455433 RCV004813747 RCV004740562

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

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

Criteria Provided
Conflicting Classifications

rs_201994921

6 SubmittersRCV001090804 RCV001376488

NM_025114.4(CEP290):c.2T>A (p.Met1Lys)

SNV
Germline

Chr12:88141306

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_368984997

5 SubmittersRCV001091344 RCV001862693 RCV002482162 RCV004813738 RCV004536141

NM_014336.5(AIPL1):c.364G>C (p.Gly122Arg)

SNV
Germline

Chr17:6428419

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_201883601

8 SubmittersRCV001090635 RCV001172396 RCV002489728 RCV002222668

NM_000554.6(CRX):c.206G>A (p.Arg69His)

SNV
Germline

Chr19:47836348

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_775073228

3 SubmittersRCV001238013 RCV001093247 RCV004813758

NM_201253.3(CRB1):c.265C>T (p.Pro89Ser)

SNV
Germline

Chr1:197328616

Conflicting classifications of pathogenicity

Leber congenital amaurosis 8
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa
Inborn genetic diseases
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Conflicting Classifications

rs_145525029

3 SubmittersRCV001100912 RCV001100911 RCV001100913 RCV003160630 RCV002554969

NM_201253.3(CRB1):c.867G>A (p.Thr289=)

SNV
Germline

Chr1:197347358

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_147244321

4 SubmittersRCV001100737 RCV001100736 RCV001100738 RCV001317879 RCV001833700 RCV003890246

NM_201253.3(CRB1):c.1878T>C (p.Ala626=)

SNV
Germline

Chr1:197421706

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1413323140

2 SubmittersRCV001101090 RCV001101091 RCV001100836 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

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

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
Leber congenital amaurosis 2
Retinitis pigmentosa 20

Criteria Provided
Conflicting Classifications

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

Criteria Provided
Conflicting Classifications

rs_747122876

2 SubmittersRCV001100590 RCV001100591 RCV003769066

NM_000329.3(RPE65):c.366C>T (p.Tyr122=)

SNV
Germline

Chr1:68444660

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1479443954

2 SubmittersRCV001097118 RCV001097117 RCV001444955

NM_025114.4(CEP290):c.5814T>C (p.Thr1938=)

SNV
Germline

Chr12:88071822

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_752046733

2 SubmittersRCV001112803 RCV001462557 RCV001112804 RCV001112805 RCV001112806 RCV001112807

NM_025114.4(CEP290):c.5607T>C (p.Asn1869=)

SNV
Germline

Chr12:88077324

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_777353443

2 SubmittersRCV001110125 RCV001110126 RCV001110127 RCV001110129 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
Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

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

Criteria Provided
Conflicting Classifications

rs_200587974

6 SubmittersRCV001109863 RCV001109862 RCV001244757 RCV001279936 RCV002497520 RCV001109864 RCV001109865 RCV001113893 RCV003227912 RCV004538332

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

SNV
Germline

Chr12:88141254

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_886049885

2 SubmittersRCV001112728 RCV001110742 RCV001110743 RCV001110744 RCV001110745 RCV001502187

NM_020366.4(RPGRIP1):c.846C>T (p.Leu282=)

SNV
Germline

Chr14:21307776

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_201186199

2 SubmittersRCV001111079 RCV001111080 RCV002069792

NM_020366.4(RPGRIP1):c.3571C>T (p.Arg1191Trp)

SNV
Germline

Chr14:21345151

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_188660364

3 SubmittersRCV001113379 RCV001113378 RCV001488401

NM_020366.4(RPGRIP1):c.2710+11G>A

SNV
Germline

Chr14:21326184

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_368181053

2 SubmittersRCV001113277 RCV001113278 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
Leber congenital amaurosis 6
Cone-rod dystrophy 13

Criteria Provided
Conflicting Classifications

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

rs_114796215

1 SubmittersRCV001115839 RCV001115840

NM_018418.5(SPATA7):c.937G>A (p.Ala313Thr)

SNV
Germline

Chr14:88429372

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Leber congenital amaurosis 3
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_143812944

4 SubmittersRCV001120975 RCV001119004 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

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

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

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

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
Leber congenital amaurosis 7
Cone-rod dystrophy 2
Retinal dystrophy

Criteria Provided
Conflicting Classifications

rs_763651232

3 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
Leber congenital amaurosis 7
Cone-rod dystrophy 2

Criteria Provided
Conflicting Classifications

rs_764877352

2 SubmittersRCV001129005 RCV001129007 RCV001129006 RCV002558263

NM_000554.6(CRX):c.765C>T (p.Gly255=)

SNV
Germline

Chr19:47839832

Conflicting classifications of pathogenicity

Cone-rod dystrophy 2
Retinitis pigmentosa
Leber congenital amaurosis 7
Leber congenital amaurosis 7
Cone-rod dystrophy 2
CRX-related disorder

Criteria Provided
Conflicting Classifications

rs_145913500

3 SubmittersRCV001131695 RCV001131696 RCV001131694 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

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

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

rs_560185740

1 SubmittersRCV001132803 RCV001132804 RCV001136199

NM_000554.6(CRX):c.*1684G>A

SNV
Germline

Chr19:47841651

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Leber congenital amaurosis 7
Cone-rod dystrophy 2

Criteria Provided
Conflicting Classifications

rs_141564522

1 SubmittersRCV001132282 RCV001132283 RCV001133217

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

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

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

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

rs_375365480

3 SubmittersRCV001148966 RCV001148967 RCV002070807 RCV003938513

NM_003322.6(TULP1):c.1569C>T (p.Cys523=)

SNV
Germline

Chr6:35498387

Conflicting classifications of pathogenicity

Leber congenital amaurosis 15
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_768536269

2 SubmittersRCV001153581 RCV001153580 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

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
Inborn genetic diseases
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_139402633

3 SubmittersRCV001157866 RCV002557350 RCV001157867 RCV001349738

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

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
Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

rs_576738703

2 SubmittersRCV001152496 RCV001858997 RCV001157951

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

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

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

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

rs_72624974

1 SubmittersRCV001161183 RCV001161184

NM_000883.4(IMPDH1):c.1280C>T (p.Pro427Leu)

SNV
Germline

Chr7:128395256

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Leber congenital amaurosis 11
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_763999626

2 SubmittersRCV001162849 RCV001162848 RCV001462652

NM_000883.4(IMPDH1):c.1226G>A (p.Gly409Asp)

SNV
Germline

Chr7:128396635

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Leber congenital amaurosis 11
Condition: not provided
Retinitis pigmentosa 10

Criteria Provided
Conflicting Classifications

rs_375914533

3 SubmittersRCV001162850 RCV001162851 RCV001510613 RCV001593301

NM_000883.4(IMPDH1):c.675T>C (p.Ser225=)

SNV
Germline

Chr7:128400444

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Leber congenital amaurosis 11
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_373353058

2 SubmittersRCV001161420 RCV001161421 RCV002558539

NM_000883.4(IMPDH1):c.561C>T (p.Asn187=)

SNV
Germline

Chr7:128400835

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Leber congenital amaurosis 11
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1042250

2 SubmittersRCV001162955 RCV001162954 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

rs_115317386

2 SubmittersRCV001163583 RCV002067988

NM_000883.4(IMPDH1):c.255-10C>T

SNV
Germline

Chr7:128405875

Conflicting classifications of pathogenicity

Leber congenital amaurosis 11
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1478038443

2 SubmittersRCV001165037 RCV001165038 RCV001402946

NM_001001557.4(GDF6):c.18C>T (p.Val6=)

SNV
Germline

Chr8:96160675

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

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
Cone-rod dystrophy 6
Leber congenital amaurosis 1

Criteria Provided
Conflicting Classifications

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

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

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

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

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

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

rs_772417830

1 SubmittersRCV001172387

NM_002242.4(KCNJ13):c.431T>C (p.Leu144Pro)

SNV
Germline

Chr2:232770932

Likely pathogenic

Retinitis pigmentosa
Leber congenital amaurosis 16

Criteria Provided
Single Submitter

rs_1361858388

2 SubmittersRCV004813155 RCV001269022

NM_201253.3(CRB1):c.3878G>A (p.Trp1293Ter)

SNV
Germline

Chr1:197438675

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1665282478

3 SubmittersRCV001198223 RCV001859201 RCV003449635 RCV003449636

NM_003322.6(TULP1):c.1258C>T (p.Arg420Cys)

SNV
Unknown

Chr6:35503624

Likely pathogenic

Leber congenital amaurosis 15

Criteria Provided
Single Submitter

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

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

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

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

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

rs_1761066725

1 SubmittersRCV001198770

NM_025114.4(CEP290):c.6012-2A>G

SNV
Germline

Chr12:88068647

Pathogenic

Joubert syndrome 5
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Leber congenital amaurosis
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

rs_555755221

4 SubmittersRCV001198220 RCV001211579 RCV001828613 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

rs_781587897

2 SubmittersRCV001199174

NM_201253.3(CRB1):c.3936C>G (p.Cys1312Trp)

SNV
Germline

Chr1:197442223

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1665481687

3 SubmittersRCV001217937 RCV003449689 RCV002484183 RCV003449687 RCV003449688

NM_022787.4(NMNAT1):c.532G>A (p.Val178Met)

SNV
Germline

Chr1:9982393

Likely pathogenic

Leber congenital amaurosis 9

Criteria Provided
Single Submitter

rs_757724544

2 SubmittersRCV001223249

NM_025114.4(CEP290):c.3811C>T (p.Arg1271Ter)

SNV
Germline

Chr12:88089250

Pathogenic

Meckel-Gruber syndrome
Nephronophthisis
Familial aplasia of the vermis
Bardet-Biedl syndrome 14
Leber congenital amaurosis
Condition: not provided
Meckel syndrome, type 4
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_1412133967

10 SubmittersRCV001222226 RCV002283532 RCV001828771 RCV001529282 RCV004546619 RCV004813908

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

rs_1658673791

1 SubmittersRCV001204868

NM_201253.3(CRB1):c.1841G>T (p.Gly614Val)

SNV
Germline

Chr1:197421669

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_763111500

6 SubmittersRCV002250730 RCV003230647 RCV001201454 RCV003449640 RCV003449639 RCV001833768

NM_201253.3(CRB1):c.1949G>A (p.Trp650Ter)

SNV
Germline

Chr1:197421777

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

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

Reviewed By Expert Panel

rs_1171545533

3 SubmittersRCV001212438 RCV003469354 RCV004801931

NM_000329.3(RPE65):c.746A>G (p.Tyr249Cys)

SNV
Germline

Chr1:68439303

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_373652862

3 SubmittersRCV001206748 RCV003469337 RCV001833815

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

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

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 13
Leber congenital amaurosis
not specified

Criteria Provided
Conflicting Classifications

rs_1206574200

3 SubmittersRCV001205016 RCV001828646 RCV004690012

NM_152443.3(RDH12):c.535C>G (p.His179Asp)

SNV
Germline

Chr14:67727067

Pathogenic

Leber congenital amaurosis 13

Criteria Provided
Single Submitter

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

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

rs_868032740

2 SubmittersRCV001208493 RCV001751381

NM_201253.3(CRB1):c.2129-1G>C

SNV
Germline

Chr1:197427453

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

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

rs_1645896934

2 SubmittersRCV001210075 RCV003469347

NM_025114.4(CEP290):c.5709+1G>A

SNV
Germline

Chr12:88077221

Pathogenic

Nephronophthisis
Familial aplasia of the vermis
Meckel-Gruber syndrome
Leber congenital amaurosis

Criteria Provided
Single Submitter

rs_759850328

2 SubmittersRCV001211207 RCV001833851

NM_018418.5(SPATA7):c.20-1G>A

SNV
Germline

Chr14:88391380

Likely pathogenic

Leber congenital amaurosis 3

Criteria Provided
Single Submitter

rs_554224437

1 SubmittersRCV001211404

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

SNV
Germline

Chr1:68439325

Pathogenic

Leber congenital amaurosis 2
Retinal dystrophy
Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Multiple Submitters
No Conflicts

rs_878853372

4 SubmittersRCV001250705 RCV004813910 RCV001224577

NM_201253.3(CRB1):c.1381C>T (p.Gln461Ter)

SNV
Germline

Chr1:197421209

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1664292210

3 SubmittersRCV003449717 RCV001228468 RCV001780159 RCV003449718

NM_201253.3(CRB1):c.1472A>T (p.Asp491Val)

SNV
Germline

Chr1:197421300

Conflicting classifications of pathogenicity

Leber congenital amaurosis 8
Retinitis pigmentosa 12
CRB1-related maculopathy

Criteria Provided
Conflicting Classifications

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
Retinal dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_896160584

3 SubmittersRCV001232801 RCV004813938 RCV001779138

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

rs_1665482895

1 SubmittersRCV001230470

NM_000329.3(RPE65):c.536C>T (p.Ala179Val)

SNV
Germline

Chr1:68440960

Likely pathogenic

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

Reviewed By Expert Panel

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

rs_772573829

3 SubmittersRCV001234955 RCV001828868

NM_001122769.3(LCA5):c.763C>T (p.Arg255Ter)

SNV
Germline

Chr6:79493708

Pathogenic

Condition: not provided
Leber congenital amaurosis 5
Retinitis pigmentosa
Polycystic liver disease 2

Criteria Provided
Multiple Submitters
No Conflicts

rs_151017794

5 SubmittersRCV001234057 RCV001828861 RCV001724273 RCV004813160

NM_025114.4(CEP290):c.3240T>G (p.Tyr1080Ter)

SNV
Germline

Chr12:88093839

Pathogenic/Likely pathogenic

Familial aplasia of the vermis
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
Multiple Submitters
No Conflicts

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

rs_775425686

1 SubmittersRCV001236080

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

rs_374126653

3 SubmittersRCV001236742 RCV001760251

NM_000180.4(GUCY2D):c.65G>A (p.Trp22Ter)

SNV
Germline

Chr17:8003112

Pathogenic

Leber congenital amaurosis 1
Cone-rod dystrophy 6

Criteria Provided
Single Submitter

rs_1308509257

1 SubmittersRCV001234701

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

rs_1349155167

1 SubmittersRCV001235694

NM_000554.6(CRX):c.128G>A (p.Arg43His)

SNV
Germline

Chr19:47836270

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_771736389

2 SubmittersRCV001228802 RCV001544775

NM_201253.3(CRB1):c.601T>C (p.Cys201Arg)

SNV
Germline

Chr1:197328952

Conflicting classifications of pathogenicity

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Conflicting Classifications

rs_762835866

2 SubmittersRCV001243685 RCV004570621

NM_201253.3(CRB1):c.1094G>A (p.Arg365His)

SNV
Germline

Chr1:197356936

Conflicting classifications of pathogenicity

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_777528044

3 SubmittersRCV001241405 RCV001828975 RCV003353255

NM_000329.3(RPE65):c.433G>A (p.Ala145Thr)

SNV
Germline

Chr1:68444593

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_767528365

7 SubmittersRCV001244171 RCV001701309 RCV001836228 RCV004813999 RCV004813998

NM_000329.3(RPE65):c.421G>T (p.Glu141Ter)

SNV
Germline

Chr1:68444605

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

rs_1469460289

1 SubmittersRCV001245546

NM_000329.3(RPE65):c.124C>T (p.Leu42Phe)

SNV
Germline

Chr1:68446831

Likely pathogenic

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

Reviewed By Expert Panel

rs_750724065

5 SubmittersRCV001243775 RCV001773551 RCV001829042 RCV004556080 RCV004801934

NM_022787.4(NMNAT1):c.205A>G (p.Met69Val)

SNV
Germline

Chr1:9975681

Pathogenic

Leber congenital amaurosis 9

Criteria Provided
Single Submitter

rs_372066126

2 SubmittersRCV001248040

NM_025114.4(CEP290):c.7015C>T (p.Arg2339Trp)

SNV
Germline

Chr12:88054359

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_200969981

10 SubmittersRCV001243915 RCV004577955 RCV001354642 RCV001835188 RCV002480820 RCV004813996 RCV004538510 RCV004609704

NM_025114.4(CEP290):c.5885G>A (p.Arg1962Lys)

SNV
Germline

Chr12:88071420

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_562477272

6 SubmittersRCV001247983 RCV001760286 RCV001835317 RCV002499432 RCV003887972 RCV004538524

NM_025114.4(CEP290):c.1235C>T (p.Thr412Met)

SNV
Germline

Chr12:88121121

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_189280108

6 SubmittersRCV001244829 RCV001835216 RCV002504354 RCV004538514 RCV004720814 RCV004978200

NM_201253.3(CRB1):c.2843-1G>T

SNV
Germline

Chr1:197434705

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_878853368

3 SubmittersRCV001226168 RCV001828805 RCV003473786

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

rs_778768116

3 SubmittersRCV001230466 RCV001833994 RCV003469408

NM_020366.4(RPGRIP1):c.219-2A>G

SNV
Germline

Chr14:21300964

Likely pathogenic

Leber congenital amaurosis 6
Cone-rod dystrophy 13

Criteria Provided
Single Submitter

rs_1880999471

1 SubmittersRCV001236081

NM_020366.4(RPGRIP1):c.1467+1G>A

SNV
Germline

Chr14:21320178

Likely pathogenic

Leber congenital amaurosis 6
Cone-rod dystrophy 13

Criteria Provided
Single Submitter

rs_1167313603

1 SubmittersRCV001238536

NM_020366.4(RPGRIP1):c.2711-2A>G

SNV
Germline

Chr14:21327621

Pathogenic

Leber congenital amaurosis 6
Cone-rod dystrophy 13

Criteria Provided
Single Submitter

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

rs_1658697788

1 SubmittersRCV001250656

NM_201253.3(CRB1):c.691C>T (p.Gln231Ter)

SNV
Germline

Chr1:197344319

Pathogenic

Leber congenital amaurosis 8
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

rs_1659642763

2 SubmittersRCV001250634 RCV001879782

NM_201253.3(CRB1):c.805C>T (p.Gln269Ter)

SNV
Germline

Chr1:197344433

Pathogenic

Leber congenital amaurosis 8
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

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

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

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

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

rs_1664649015

1 SubmittersRCV001250599

NM_201253.3(CRB1):c.2234C>A (p.Thr745Lys)

SNV
Germline

Chr1:197427559

Pathogenic/Likely pathogenic

Leber congenital amaurosis 8
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Multiple Submitters
No Conflicts

rs_28939720

3 SubmittersRCV001250643 RCV001879784

NM_201253.3(CRB1):c.2466G>A (p.Trp822Ter)

SNV
Germline

Chr1:197427791

Pathogenic

Leber congenital amaurosis 8
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

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

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

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

rs_1664683759

1 SubmittersRCV001250644

NM_201253.3(CRB1):c.3074G>A (p.Ser1025Asn)

SNV
Germline

Chr1:197434937

Likely pathogenic

Leber congenital amaurosis 8
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_62636274

3 SubmittersRCV001250613 RCV003331092

NM_201253.3(CRB1):c.3153G>A (p.Trp1051Ter)

SNV
Germline

Chr1:197435016

Pathogenic

Leber congenital amaurosis 8

No Assertion Criteria Provided

rs_1249210332

1 SubmittersRCV001250647

NM_201253.3(CRB1):c.3164T>A (p.Val1055Glu)

SNV
Germline

Chr1:197435027

Likely pathogenic

Leber congenital amaurosis 8

No Assertion Criteria Provided

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

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

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

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

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

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

rs_1667260968

1 SubmittersRCV001250623

NM_201253.3(CRB1):c.4142C>G (p.Pro1381Arg)

SNV
Germline

Chr1:197477800

Likely pathogenic

Leber congenital amaurosis 8

No Assertion Criteria Provided

rs_1667264651

1 SubmittersRCV001250625

NM_201253.3(CRB1):c.4142C>T (p.Pro1381Leu)

SNV
Germline

Chr1:197477800

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

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

rs_1968166379

1 SubmittersRCV001250583

NM_000554.6(CRX):c.523C>T (p.Gln175Ter)

SNV
Germline

Chr19:47839590

Pathogenic

Leber congenital amaurosis 7
See cases
Leber congenital amaurosis 7
Cone-rod dystrophy 2

Criteria Provided
Multiple Submitters
No Conflicts

rs_1968167093

3 SubmittersRCV001250585 RCV004584428 RCV002570426

NM_000554.6(CRX):c.585C>A (p.Tyr195Ter)

SNV
Germline

Chr19:47839652

Pathogenic

Leber congenital amaurosis 7

No Assertion Criteria Provided

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

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

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

rs_1645880293

1 SubmittersRCV001250689

NM_000329.3(RPE65):c.770T>G (p.Val257Gly)

SNV
Germline

Chr1:68439279

Likely pathogenic

Leber congenital amaurosis 2

No Assertion Criteria Provided

rs_1645883131

1 SubmittersRCV001250709

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

rs_1645885900

2 SubmittersRCV001250699 RCV001390652

NM_000329.3(RPE65):c.407T>G (p.Val136Gly)

SNV
Germline

Chr1:68444619

Likely pathogenic

Leber congenital amaurosis 2

No Assertion Criteria Provided

rs_1645928251

1 SubmittersRCV001250696

NM_000329.3(RPE65):c.190C>T (p.Gln64Ter)

SNV
Germline

Chr1:68446765

Pathogenic

Leber congenital amaurosis 2

No Assertion Criteria Provided

rs_1645945599

1 SubmittersRCV001250680

NM_000329.3(RPE65):c.187G>C (p.Gly63Arg)

SNV
Germline

Chr1:68446768

Likely pathogenic

Leber congenital amaurosis 2

No Assertion Criteria Provided

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

Reviewed By Expert Panel

rs_905365719

7 SubmittersRCV001250681 RCV002307711 RCV002480862 RCV002570428 RCV003770300 RCV004814022

NM_000180.4(GUCY2D):c.543G>A (p.Trp181Ter)

SNV
Germline

Chr17:8003590

Pathogenic

Leber congenital amaurosis 1

No Assertion Criteria Provided

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

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

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

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

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

rs_1975868797

1 SubmittersRCV001250868

NM_000180.4(GUCY2D):c.2008C>T (p.Arg670Trp)

SNV
Germline

Chr17:8012501

Likely pathogenic

Leber congenital amaurosis 1

No Assertion Criteria Provided

rs_931906767

1 SubmittersRCV001250834

NM_000180.4(GUCY2D):c.2132C>T (p.Pro711Leu)

SNV
Germline

Chr17:8013121

Conflicting classifications of pathogenicity

Cone-rod dystrophy 6
Leber congenital amaurosis 1
Leber congenital amaurosis
Leber congenital amaurosis 1

Criteria Provided
Conflicting Classifications

rs_765463082

3 SubmittersRCV001306871 RCV004690034 RCV001250836

NM_000180.4(GUCY2D):c.2338T>C (p.Cys780Arg)

SNV
Germline

Chr17:8013954

Likely pathogenic

Leber congenital amaurosis 1

No Assertion Criteria Provided

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

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

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

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

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

rs_1975943992

1 SubmittersRCV001250846

NM_000180.4(GUCY2D):c.2836G>A (p.Ala946Thr)

SNV
Germline

Chr17:8015394

Likely pathogenic

Leber congenital amaurosis 1

No Assertion Criteria Provided

rs_1975945845

1 SubmittersRCV001250848

NM_000180.4(GUCY2D):c.2836G>T (p.Ala946Ser)

SNV
Germline

Chr17:8015394

Likely pathogenic

Leber congenital amaurosis 1

No Assertion Criteria Provided

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

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

rs_764954235

1 SubmittersRCV001250879

NM_000180.4(GUCY2D):c.3037G>A (p.Gly1013Arg)

SNV
Germline

Chr17:8015835

Pathogenic

Leber congenital amaurosis 1
Cone-rod dystrophy 6
Leber congenital amaurosis 1

Criteria Provided
Single Submitter

rs_868612148

2 SubmittersRCV001250854 RCV001879810

NM_000180.4(GUCY2D):c.3056A>C (p.His1019Pro)

SNV
Germline

Chr17:8015939

Likely pathogenic

Leber congenital amaurosis 1

No Assertion Criteria Provided

rs_1429807175

1 SubmittersRCV001250856

NM_000180.4(GUCY2D):c.3163T>G (p.Trp1055Gly)

SNV
Germline

Chr17:8016229

Likely pathogenic

Leber congenital amaurosis 1

No Assertion Criteria Provided

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

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

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

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

rs_1975931968

1 SubmittersRCV001250843

NM_000180.4(GUCY2D):c.2770-2A>G

SNV
Germline

Chr17:8015326

Pathogenic

Leber congenital amaurosis 1

No Assertion Criteria Provided

rs_1975943416

1 SubmittersRCV001250845

NM_000180.4(GUCY2D):c.2770-1G>C

SNV
Germline

Chr17:8015327

Pathogenic

Leber congenital amaurosis 1

No Assertion Criteria Provided

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

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

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

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
Single Submitter

rs_1239043055

2 SubmittersRCV001255719

NM_152443.3(RDH12):c.805G>C (p.Ala269Pro)

SNV
Germline

Chr14:67729337

Likely pathogenic

Leber congenital amaurosis 13

No Assertion Criteria Provided

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

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

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

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

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

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

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

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

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

rs_779101498

2 SubmittersRCV001255919

NM_000554.6(CRX):c.292C>T (p.Arg98Ter)

SNV
Germline

Chr19:47839359

Pathogenic

Retinitis pigmentosa
Leber congenital amaurosis 7
Cone-rod dystrophy 2

Criteria Provided
Multiple Submitters
No Conflicts

rs_751018117

2 SubmittersRCV001256189 RCV001879957

NM_022787.4(NMNAT1):c.-72G>A

SNV
Germline

Chr1:9943500

Likely pathogenic

Leber congenital amaurosis 9

No Assertion Criteria Provided

rs_1475372376

1 SubmittersRCV001256651

NM_022787.4(NMNAT1):c.-69C>T

SNV
Germline

Chr1:9943503

Pathogenic

Leber congenital amaurosis 9

No Assertion Criteria Provided

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

rs_753594556

3 SubmittersRCV001257110 RCV002570616

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

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

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

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

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

rs_748072501

1 SubmittersRCV001261175

NM_020366.4(RPGRIP1):c.2895+1G>T

SNV
Germline

Chr14:21327808

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_748072501

3 SubmittersRCV001261174 RCV003324559 RCV001880011

NM_020366.4(RPGRIP1):c.521C>G (p.Pro174Arg)

SNV
Germline

Chr14:21302518

Likely pathogenic

Leber congenital amaurosis 6

No Assertion Criteria Provided

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

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

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

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

rs_1885763952

1 SubmittersRCV001261190

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

rs_1975959442

1 SubmittersRCV003770363

NM_022787.4(NMNAT1):c.196C>T (p.Arg66Trp)

SNV
Germline

Chr1:9975672

Pathogenic

Leber congenital amaurosis 9

Criteria Provided
Single Submitter

rs_763325435

1 SubmittersRCV001381857

NM_003322.6(TULP1):c.568G>T (p.Glu190Ter)

SNV
Germline

Chr6:35509860

Pathogenic

Leber congenital amaurosis 15
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1761161294

2 SubmittersRCV001729832 RCV001268710

NM_152443.3(RDH12):c.226G>A (p.Gly76Arg)

SNV
Germline

Chr14:67725137

Pathogenic

Condition: not provided
Leber congenital amaurosis 13

Criteria Provided
Multiple Submitters
No Conflicts

rs_368489658

4 SubmittersRCV001268128 RCV001387781

NM_025114.4(CEP290):c.4714G>T (p.Glu1572Ter)

SNV
Germline

Chr12:88083945

Pathogenic/Likely pathogenic

Joubert syndrome 5
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Condition: not provided
Leber congenital amaurosis 10

Criteria Provided
Multiple Submitters
No Conflicts

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

rs_1665487563

1 SubmittersRCV001305823

NM_001001557.4(GDF6):c.536C>A (p.Pro179Gln)

SNV
Germline

Chr8:96145395

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1444302456

2 SubmittersRCV001298384 RCV004629541

NM_201253.3(CRB1):c.2033G>A (p.Ser678Asn)

SNV
Germline

Chr1:197421861

Conflicting classifications of pathogenicity

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Inborn genetic diseases
Leber congenital amaurosis

Criteria Provided
Conflicting Classifications

rs_139463596

3 SubmittersRCV001325558 RCV003166908 RCV001831005

NM_201253.3(CRB1):c.2223G>A (p.Met741Ile)

SNV
Germline

Chr1:197427548

Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

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

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

Criteria Provided
Single Submitter

rs_1665279918

1 SubmittersRCV001323343

NM_000554.6(CRX):c.263A>G (p.Lys88Arg)

SNV
Germline

Chr19:47839330

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1001151383

4 SubmittersRCV001320521 RCV001532383 RCV001587340 RCV003447588

NM_201253.3(CRB1):c.1522T>C (p.Cys508Arg)

SNV
Germline

Chr1:197421350

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

rs_1664303657

1 SubmittersRCV001343048

NM_201253.3(CRB1):c.3686G>C (p.Cys1229Ser)

SNV
Germline

Chr1:197435549

Pathogenic/Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8
CRB1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_1031415706

3 SubmittersRCV001350386 RCV003473873 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

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

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

rs_28940314

3 SubmittersRCV001340739

NM_201253.3(CRB1):c.2687G>C (p.Cys896Ser)

SNV
Unknown

Chr1:197429459

Likely pathogenic

Leber congenital amaurosis 8

Criteria Provided
Single Submitter

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

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

rs_1641939445

1 SubmittersRCV001358654

NM_201253.3(CRB1):c.2927T>C (p.Ile976Thr)

SNV
Germline

Chr1:197434790

Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

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

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

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

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

Criteria Provided
Conflicting Classifications

rs_1478566225

2 SubmittersRCV001360598 RCV002250753

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

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

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
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Conflicting Classifications

rs_2125471502

2 SubmittersRCV001376384 RCV001865898

NM_025114.4(CEP290):c.1523-412C>T

SNV
Germline

Chr12:88119155

Likely pathogenic

Leber congenital amaurosis 10

Criteria Provided
Single Submitter

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

rs_2139160690

1 SubmittersRCV001376537

NM_152443.3(RDH12):c.193C>T (p.Arg65Ter)

SNV
Germline

Chr14:67725104

Pathogenic/Likely pathogenic

Leber congenital amaurosis 13

Criteria Provided
Multiple Submitters
No Conflicts

rs_778571042

3 SubmittersRCV001376377

NM_201253.3(CRB1):c.71-2A>G

SNV
Germline

Chr1:197328420

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1383691293

3 SubmittersRCV001379038 RCV003473913 RCV001831365

NM_201253.3(CRB1):c.849-2A>G

SNV
Germline

Chr1:197347338

Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

rs_988534225

2 SubmittersRCV001378415 RCV004570929

NM_201253.3(CRB1):c.1172-2A>G

SNV
Germline

Chr1:197420998

Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

rs_2125468772

2 SubmittersRCV001377494 RCV004570924

NM_201253.3(CRB1):c.1172-1G>T

SNV
Germline

Chr1:197420999

Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

rs_2125468776

1 SubmittersRCV001379001

NM_201253.3(CRB1):c.1349G>A (p.Cys450Tyr)

SNV
Germline

Chr1:197421177

Conflicting classifications of pathogenicity

Leber congenital amaurosis 8
Retinitis pigmentosa 12
not specified

Criteria Provided
Conflicting Classifications

rs_746597173

2 SubmittersRCV001379460 RCV003230670

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

rs_62636265

2 SubmittersRCV001378739 RCV004789562

NM_201253.3(CRB1):c.1690G>A (p.Asp564Asn)

SNV
Germline

Chr1:197421518

Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

rs_757279881

1 SubmittersRCV001377887

NM_201253.3(CRB1):c.2105A>G (p.Tyr702Cys)

SNV
Germline

Chr1:197421933

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1180527322

3 SubmittersRCV001377318 RCV003473900 RCV004699350

NM_201253.3(CRB1):c.2128+1G>C

SNV
Germline

Chr1:197421957

Pathogenic/Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

rs_2125472205

2 SubmittersRCV001379356 RCV003473917

NM_201253.3(CRB1):c.2537G>A (p.Gly846Glu)

SNV
Germline

Chr1:197427862

Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

rs_772476137

1 SubmittersRCV001378912

NM_201253.3(CRB1):c.3493T>C (p.Cys1165Arg)

SNV
Germline

Chr1:197435356

Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

rs_767368951

1 SubmittersRCV001378741

NM_201253.3(CRB1):c.4006-1G>C

SNV
Germline

Chr1:197477663

Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

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

rs_1421696563

2 SubmittersRCV001378085 RCV005001218

NM_000329.3(RPE65):c.496-1G>A

SNV
Germline

Chr1:68441001

Pathogenic

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

Reviewed By Expert Panel

rs_2100821984

2 SubmittersRCV001379142 RCV003462960

NM_000329.3(RPE65):c.354-1G>A

SNV
Germline

Chr1:68444673

Likely pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis

Criteria Provided
Single Submitter

rs_2100827985

2 SubmittersRCV001377276 RCV001826126

NM_000329.3(RPE65):c.344T>C (p.Ile115Thr)

SNV
Germline

Chr1:68444785

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1645929674

3 SubmittersRCV001377673 RCV003469629 RCV004596449

NM_000329.3(RPE65):c.3G>A (p.Met1Ile)

SNV
Germline

Chr1:68449903

Pathogenic/Likely pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

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

rs_757681601

3 SubmittersRCV001379070 RCV001826147

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

rs_2140142183

2 SubmittersRCV001377548 RCV001831344

NM_152443.3(RDH12):c.278T>C (p.Leu93Pro)

SNV
Germline

Chr14:67725189

Pathogenic

Leber congenital amaurosis 13
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

rs_527800020

6 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

rs_2151801563

1 SubmittersRCV001377390

NM_201253.3(CRB1):c.653-1G>A

SNV
Germline

Chr1:197344280

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_760287363

5 SubmittersRCV001380026 RCV003319471 RCV001587386

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

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_768107603

2 SubmittersRCV001386224 RCV003473963

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

rs_2125470583

1 SubmittersRCV001387606

NM_201253.3(CRB1):c.1831T>C (p.Ser611Pro)

SNV
Germline

Chr1:197421659

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_769909288

5 SubmittersRCV001390796 RCV003451695 RCV003451694 RCV001831405 RCV002488213 RCV003451693

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

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

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

rs_2125489182

1 SubmittersRCV001385188

NM_201253.3(CRB1):c.3958C>T (p.Gln1320Ter)

SNV
Germline

Chr1:197442245

Pathogenic/Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

rs_1246546027

2 SubmittersRCV003473953 RCV001384585

NM_201253.3(CRB1):c.4005+1G>C

SNV
Germline

Chr1:197442293

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

rs_890453675

1 SubmittersRCV001387814

NM_201253.3(CRB1):c.4006-1G>T

SNV
Germline

Chr1:197477663

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_752804194

4 SubmittersRCV001390944 RCV003446738 RCV003446740 RCV002499822 RCV003446739

NM_000329.3(RPE65):c.1409C>T (p.Pro470Leu)

SNV
Germline

Chr1:68431106

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_774211361

3 SubmittersRCV001383020 RCV003128763 RCV003469687

NM_000329.3(RPE65):c.1399C>G (p.Pro467Ala)

SNV
Germline

Chr1:68431116

Pathogenic

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

Reviewed By Expert Panel

rs_1395763356

3 SubmittersRCV001381888 RCV003771239 RCV003469666

NM_000329.3(RPE65):c.1028T>G (p.Leu343Ter)

SNV
Germline

Chr1:68438287

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

rs_2100817136

1 SubmittersRCV001384746

NM_000329.3(RPE65):c.912C>G (p.Tyr304Ter)

SNV
Germline

Chr1:68439028

Pathogenic/Likely pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis 2

Criteria Provided
Multiple Submitters
No Conflicts

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

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
Leber congenital amaurosis 2
RPE65-related recessive retinopathy

Reviewed By Expert Panel

rs_1459110114

3 SubmittersRCV001388256 RCV003469740 RCV004527424

NM_000329.3(RPE65):c.200T>G (p.Leu67Arg)

SNV
Germline

Chr1:68446755

Pathogenic

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

Reviewed By Expert Panel

rs_1344724754

3 SubmittersRCV001380404 RCV003469648 RCV003771233

NM_000329.3(RPE65):c.94G>T (p.Gly32Cys)

SNV
Germline

Chr1:68448624

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_768448761

3 SubmittersRCV001380405 RCV001826156 RCV003469649

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

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

rs_1318750068

2 SubmittersRCV001380668 RCV003469653

NM_025114.4(CEP290):c.7324G>T (p.Glu2442Ter)

SNV
Germline

Chr12:88049300

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1374014119

2 SubmittersRCV001384498 RCV002493927

NM_025114.4(CEP290):c.4090G>T (p.Glu1364Ter)

SNV
Germline

Chr12:88087884

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_779645669

5 SubmittersRCV001381486 RCV001836389 RCV002476720 RCV003156344 RCV004733280

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

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

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

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

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

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

rs_749304751

1 SubmittersRCV001384811

NM_000180.4(GUCY2D):c.2383C>T (p.Arg795Trp)

SNV
Germline

Chr17:8013999

Pathogenic

Cone-rod dystrophy 6
Leber congenital amaurosis 1

Criteria Provided
Single Submitter

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

Criteria Provided
Single Submitter

rs_1338490917

1 SubmittersRCV001383053

NM_000180.4(GUCY2D):c.2646C>G (p.Tyr882Ter)

SNV
Germline

Chr17:8014928

Pathogenic

Cone-rod dystrophy 6
Leber congenital amaurosis 1

Criteria Provided
Single Submitter

rs_1567961697

1 SubmittersRCV001388269

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

rs_1975964112

1 SubmittersRCV001389184

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

Criteria Provided
Conflicting Classifications

rs_200586401

2 SubmittersRCV001397931 RCV001762668

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

Criteria Provided
Conflicting Classifications

rs_200657688

3 SubmittersRCV001473685 RCV001751769 RCV001800997 RCV001800998

NM_020366.4(RPGRIP1):c.3448G>T (p.Asp1150Tyr)

SNV
Germline

Chr14:21343144

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_144704092

3 SubmittersRCV001491398 RCV001801002 RCV001773756 RCV001801001

NM_004744.5(LRAT):c.224C>T (p.Pro75Leu)

SNV
Germline

Chr4:154744550

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 14

Criteria Provided
Conflicting Classifications

rs_766279892

2 SubmittersRCV002568846 RCV001526724

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

rs_780578479

2 SubmittersRCV001526725 RCV002568132

NM_025114.4(CEP290):c.3085G>T (p.Glu1029Ter)

SNV
Unknown

Chr12:88096906

Likely pathogenic

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

Criteria Provided
Single Submitter

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

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

rs_751822337

1 SubmittersRCV001542793

NM_025114.4(CEP290):c.712G>T (p.Glu238Ter)

SNV
Germline

Chr12:88129834

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

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
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Conflicting Classifications

rs_2125484301

2 SubmittersRCV001563883 RCV001563882 RCV002072150

NM_201253.3(CRB1):c.70+1G>T

SNV
Germline

Chr1:197268483

Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

rs_1237424465

1 SubmittersRCV001580686 RCV001580687

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

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

rs_1948821736

1 SubmittersRCV001591797

NM_152443.3(RDH12):c.148G>A (p.Gly50Ser)

SNV
Germline

Chr14:67724552

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Leber congenital amaurosis 13

Criteria Provided
Conflicting Classifications

rs_2140141345

2 SubmittersRCV001591830 RCV001866151

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

rs_2140145599

1 SubmittersRCV001591831 RCV003389498

NM_152443.3(RDH12):c.667G>T (p.Val223Phe)

SNV
Germline

Chr14:67729199

Conflicting classifications of pathogenicity

Retinal dystrophy
Leber congenital amaurosis

Criteria Provided
Conflicting Classifications

rs_370015375

2 SubmittersRCV001591833 RCV003399392

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

Reviewed By Expert Panel

rs_2100831413

3 SubmittersRCV001591854 RCV003771781 RCV004690118

NM_000329.3(RPE65):c.693C>A (p.Cys231Ter)

SNV
Germline

Chr1:68439593

Pathogenic

Leber congenital amaurosis 2

Criteria Provided
Single Submitter

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

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

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

rs_1188328539

1 SubmittersRCV001591902

NM_000329.3(RPE65):c.93A>G (p.Thr31=)

SNV
Germline

Chr1:68448625

Likely pathogenic

Leber congenital amaurosis 2

Criteria Provided
Single Submitter

rs_2100834154

2 SubmittersRCV001682631

NM_025114.4(CEP290):c.4705-2A>C

SNV
Germline

Chr12:88083956

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Meckel-Gruber syndrome
Nephronophthisis
Familial aplasia of the vermis
Leber congenital amaurosis 10

Criteria Provided
Conflicting Classifications

rs_2137170380

2 SubmittersRCV001724852 RCV001859437 RCV002227536

NM_201253.3(CRB1):c.1844G>A (p.Gly615Asp)

SNV
Germline

Chr1:197421672

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Conflicting Classifications

rs_768905244

2 SubmittersRCV001724857 RCV002539742

NM_201253.3(CRB1):c.3881G>A (p.Cys1294Tyr)

SNV
Germline

Chr1:197442168

Conflicting classifications of pathogenicity

Cone-rod dystrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Conflicting Classifications

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

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

rs_778232235

3 SubmittersRCV001861045 RCV001733784 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

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
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Conflicting Classifications

rs_2125499421

2 SubmittersRCV001752298 RCV002539930

NM_201253.3(CRB1):c.3221T>C (p.Leu1074Ser)

SNV
Germline

Chr1:197435084

Pathogenic

Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

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

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

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

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

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
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Senior-Loken syndrome 6
Joubert syndrome 5
Familial aplasia of the vermis
Meckel-Gruber syndrome
Nephronophthisis
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

rs_1478582091

4 SubmittersRCV001825112 RCV002503334 RCV002545200 RCV003470936

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

rs_2131435194

3 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

rs_766989894

1 SubmittersRCV002028701

NM_000180.4(GUCY2D):c.2260G>T (p.Glu754Ter)

SNV
Germline

Chr17:8013249

Pathogenic

Cone-rod dystrophy 6
Leber congenital amaurosis 1

Criteria Provided
Single Submitter

rs_747951577

1 SubmittersRCV001944799

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

rs_2125506218

1 SubmittersRCV001884818

NM_000329.3(RPE65):c.354-1G>T

SNV
Germline

Chr1:68444673

Likely pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

rs_2100827985

1 SubmittersRCV002004304

NM_020366.4(RPGRIP1):c.3617+1G>T

SNV
Germline

Chr14:21345198

Pathogenic

Leber congenital amaurosis 6
Cone-rod dystrophy 13

Criteria Provided
Single Submitter

rs_771116776

1 SubmittersRCV001931715

NM_000180.4(GUCY2D):c.2084A>G (p.Lys695Arg)

SNV
Germline

Chr17:8012577

Conflicting classifications of pathogenicity

Cone-rod dystrophy 6
Leber congenital amaurosis 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

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

rs_2038231425

1 SubmittersRCV002038789

NM_000329.3(RPE65):c.12-1G>C

SNV
Germline

Chr1:68448707

Likely pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

rs_1348031618

2 SubmittersRCV001963808 RCV004699598

NM_025114.4(CEP290):c.102+2T>G

SNV
Germline

Chr12:88141204

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_763226787

5 SubmittersRCV002027685 RCV002498073 RCV003226528 RCV003471280

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

rs_771079655

1 SubmittersRCV001881511

NM_201253.3(CRB1):c.107C>A (p.Ser36Ter)

SNV
Germline

Chr1:197328458

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

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

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

rs_1277758473

1 SubmittersRCV001969116

NM_000329.3(RPE65):c.998+1G>A

SNV
Germline

Chr1:68438941

Pathogenic

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

Reviewed By Expert Panel

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

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

rs_2125499463

1 SubmittersRCV001904204

NM_000554.6(CRX):c.560C>T (p.Thr187Ile)

SNV
Germline

Chr19:47839627

Conflicting classifications of pathogenicity

Leber congenital amaurosis 7
Cone-rod dystrophy 2
Retinal dystrophy

Criteria Provided
Conflicting Classifications

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

rs_2125472041

1 SubmittersRCV001978979

NM_000329.3(RPE65):c.432C>G (p.Tyr144Ter)

SNV
Germline

Chr1:68444594

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis 2

Criteria Provided
Multiple Submitters
No Conflicts

rs_56021047

2 SubmittersRCV001999882 RCV004571710

NM_020366.4(RPGRIP1):c.1995T>A (p.Cys665Ter)

SNV
Germline

Chr14:21324850

Pathogenic

Leber congenital amaurosis 6
Cone-rod dystrophy 13

Criteria Provided
Single Submitter

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

rs_767273026

1 SubmittersRCV001985814

NM_020366.4(RPGRIP1):c.2099G>A (p.Arg700Gln)

SNV
Germline

Chr14:21324954

Conflicting classifications of pathogenicity

Leber congenital amaurosis 6
Cone-rod dystrophy 13
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_768190736

2 SubmittersRCV002040641 RCV004656838

NM_201253.3(CRB1):c.4137C>G (p.Tyr1379Ter)

SNV
Germline

Chr1:197477795

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

rs_1206810310

1 SubmittersRCV001941693

NM_201253.3(CRB1):c.358C>T (p.Gln120Ter)

SNV
Germline

Chr1:197328709

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

rs_1658671768

2 SubmittersRCV001936758 RCV003475192

NM_201253.3(CRB1):c.2549G>T (p.Gly850Val)

SNV
Germline

Chr1:197427874

Pathogenic/Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

rs_757137398

2 SubmittersRCV001908346 RCV004571537

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

SNV
Germline

Chr1:211481119

Pathogenic

Leber congenital amaurosis 12

Criteria Provided
Single Submitter

rs_386834260

1 SubmittersRCV001886727

NM_201253.3(CRB1):c.2497G>T (p.Gly833Cys)

SNV
Germline

Chr1:197427822

Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

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

rs_757137398

1 SubmittersRCV001973133

NM_000329.3(RPE65):c.1590C>A (p.Phe530Leu)

SNV
Germline

Chr1:68429788

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis 2

Criteria Provided
Multiple Submitters
No Conflicts

rs_2100804954

2 SubmittersRCV001963988 RCV003471217

NM_201253.3(CRB1):c.1348T>A (p.Cys450Ser)

SNV
Germline

Chr1:197421176

Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

rs_1664290387

2 SubmittersRCV001995121 RCV002250793

NM_201253.3(CRB1):c.2053G>A (p.Gly685Arg)

SNV
Germline

Chr1:197421881

Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

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

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

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

rs_2140138146

3 SubmittersRCV001964550 RCV003331233

NM_201253.3(CRB1):c.3361C>T (p.Gln1121Ter)

SNV
Germline

Chr1:197435224

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

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

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

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

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

rs_1395763356

1 SubmittersRCV002030369

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

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

rs_1194458561

3 SubmittersRCV001982688 RCV004571683 RCV004527438

NM_025114.4(CEP290):c.1359+1G>A

SNV
Germline

Chr12:88120996

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

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

rs_2125354456

1 SubmittersRCV001943707

NM_201253.3(CRB1):c.1600A>G (p.Lys534Glu)

SNV
Germline

Chr1:197421428

Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

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

rs_373279009

1 SubmittersRCV002017204

NM_022787.4(NMNAT1):c.115+1G>A

SNV
Germline

Chr1:9972189

Likely pathogenic

Leber congenital amaurosis 9

Criteria Provided
Single Submitter

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

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

rs_761167763

3 SubmittersRCV002023658

NM_014336.5(AIPL1):c.403G>A (p.Glu135Lys)

SNV
Germline

Chr17:6428380

Conflicting classifications of pathogenicity

Leber congenital amaurosis 4
not specified

Criteria Provided
Conflicting Classifications

rs_187653323

2 SubmittersRCV001906873 RCV002266057

NM_201253.3(CRB1):c.3863G>A (p.Gly1288Asp)

SNV
Germline

Chr1:197438660

Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

rs_533997742

1 SubmittersRCV001971616

NM_201253.3(CRB1):c.2640T>G (p.Asn880Lys)

SNV
Germline

Chr1:197427965

Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

rs_2125485441

1 SubmittersRCV002009208

NM_022787.4(NMNAT1):c.116-2A>G

SNV
Germline

Chr1:9975590

Pathogenic

Leber congenital amaurosis 9

Criteria Provided
Single Submitter

rs_1204470176

1 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

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

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

rs_1658692554

2 SubmittersRCV001912801 RCV003475151

NM_152443.3(RDH12):c.866G>A (p.Trp289Ter)

SNV
Germline

Chr14:67733763

Pathogenic

Leber congenital amaurosis 13

Criteria Provided
Single Submitter

rs_2140162488

1 SubmittersRCV002037755

NM_020366.4(RPGRIP1):c.3610C>T (p.Gln1204Ter)

SNV
Germline

Chr14:21345190

Pathogenic

Leber congenital amaurosis 6
Cone-rod dystrophy 13

Criteria Provided
Single Submitter

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

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1409490389

2 SubmittersRCV002035427 RCV003475209

NM_201253.3(CRB1):c.848+1G>A

SNV
Germline

Chr1:197344477

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

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

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

rs_1450635782

2 SubmittersRCV002013759 RCV004699644

NM_020366.4(RPGRIP1):c.218+1G>T

SNV
Germline

Chr14:21294810

Likely pathogenic

Leber congenital amaurosis 6
Cone-rod dystrophy 13

Criteria Provided
Single Submitter

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

rs_1645928294

1 SubmittersRCV002031094

NM_000329.3(RPE65):c.725+1G>A

SNV
Germline

Chr1:68439560

Pathogenic/Likely pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis 2

Criteria Provided
Multiple Submitters
No Conflicts

rs_1260969698

2 SubmittersRCV001941576 RCV003471147

NM_000180.4(GUCY2D):c.2209C>T (p.Gln737Ter)

SNV
Germline

Chr17:8013198

Pathogenic

Cone-rod dystrophy 6
Leber congenital amaurosis 1

Criteria Provided
Single Submitter

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

rs_2125489334

1 SubmittersRCV002041452

NM_201253.3(CRB1):c.3442T>C (p.Cys1148Arg)

SNV
Germline

Chr1:197435305

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_2125500491

4 SubmittersRCV003475229 RCV001951032 RCV004690198

NM_201253.3(CRB1):c.652+1G>A

SNV
Germline

Chr1:197329004

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_2125304900

4 SubmittersRCV003446979 RCV002037978 RCV004816874 RCV002246640 RCV003446978

NM_201253.3(CRB1):c.3878+1G>A

SNV
Germline

Chr1:197438676

Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

rs_748927280

1 SubmittersRCV002020594

NM_201253.3(CRB1):c.3749+1G>A

SNV
Germline

Chr1:197435613

Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

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

rs_2139160679

1 SubmittersRCV001963002

NM_201253.3(CRB1):c.2536G>A (p.Gly846Arg)

SNV
Germline

Chr1:197427861

Pathogenic/Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

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
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

rs_1372774777

2 SubmittersRCV001942337 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

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

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

rs_1912228419

1 SubmittersRCV001956316

NM_020366.4(RPGRIP1):c.1111C>T (p.Arg371Ter)

SNV
Germline

Chr14:21312466

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_375859404

2 SubmittersRCV001871080 RCV004774498

NM_201253.3(CRB1):c.998G>C (p.Gly333Ala)

SNV
Germline

Chr1:197356840

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

rs_587783015

1 SubmittersRCV001956079

NM_201253.3(CRB1):c.1997T>A (p.Val666Asp)

SNV
Germline

Chr1:197421825

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

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

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

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

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

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

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

rs_1641702737

1 SubmittersRCV001888185

NM_001001557.4(GDF6):c.959C>G (p.Pro320Arg)

SNV
Germline

Chr8:96144972

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_888138096

2 SubmittersRCV001901583 RCV004631812

NM_201253.3(CRB1):c.3419T>A (p.Leu1140Ter)

SNV
Germline

Chr1:197435282

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

rs_1342970033

1 SubmittersRCV001944050

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

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

rs_2101701634

1 SubmittersRCV001958992

NM_020366.4(RPGRIP1):c.2216-1G>A

SNV
Germline

Chr14:21325231

Likely pathogenic

Leber congenital amaurosis 6
Cone-rod dystrophy 13

Criteria Provided
Single Submitter

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

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

rs_200968268

1 SubmittersRCV001975616

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

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

rs_771079655

1 SubmittersRCV001960197

NM_201253.3(CRB1):c.852T>A (p.Tyr284Ter)

SNV
Germline

Chr1:197347343

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

rs_1046799192

1 SubmittersRCV001907778

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

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_2125506459

4 SubmittersRCV001986193 RCV003453932 RCV003453933 RCV002492273 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

rs_2139176356

1 SubmittersRCV001922256

NM_000180.4(GUCY2D):c.2412+2T>C

SNV
Germline

Chr17:8014030

Likely pathogenic

Cone-rod dystrophy 6
Leber congenital amaurosis 1

Criteria Provided
Single Submitter

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

rs_2150925392

2 SubmittersRCV002052173 RCV004794575

NM_201253.3(CRB1):c.4029C>T (p.Asp1343=)

SNV
Germline

Chr1:197477687

Conflicting classifications of pathogenicity

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Retinal dystrophy

Criteria Provided
Conflicting Classifications

rs_780087216

2 SubmittersRCV002161543 RCV003889090

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

rs_2125499764

2 SubmittersRCV002087318 RCV003889016

NM_201253.3(CRB1):c.2018A>G (p.Lys673Arg)

SNV
Germline

Chr1:197421846

Conflicting classifications of pathogenicity

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

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

rs_559611648

2 SubmittersRCV002213404 RCV004526908

NM_003322.6(TULP1):c.790C>T (p.Gln264Ter)

SNV
Germline

Chr6:35509241

Pathogenic

Leber congenital amaurosis
Leber congenital amaurosis 15

Criteria Provided
Single Submitter

rs_2150926986

1 SubmittersRCV002210942

NM_000329.3(RPE65):c.938A>G (p.His313Arg)

SNV
Germline

Chr1:68439002

Pathogenic

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

Reviewed By Expert Panel

rs_1375943362

5 SubmittersRCV002226568 RCV003101291 RCV004527444 RCV003987987

NM_000180.4(GUCY2D):c.2135A>T (p.Glu712Val)

SNV
Unknown

Chr17:8013124

Likely pathogenic

Leber congenital amaurosis 1

Criteria Provided
Single Submitter

rs_2151802780

1 SubmittersRCV002226888

NM_000554.6(CRX):c.545C>G (p.Ser182Ter)

SNV
Germline

Chr19:47839612

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_2123743235

2 SubmittersRCV002249841 RCV003094022

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

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

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

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

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

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

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

1 SubmittersRCV002464047

NM_000329.3(RPE65):c.992G>A (p.Trp331Ter)

SNV
Germline

Chr1:68438948

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

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

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002466805 RCV004720366

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

2 SubmittersRCV002470298 RCV004571174

NM_000180.4(GUCY2D):c.1762C>T (p.Arg588Trp)

SNV
Germline

Chr17:8012156

Conflicting classifications of pathogenicity

Leber congenital amaurosis 1
Cone-rod dystrophy 6
Leber congenital amaurosis
Retinal dystrophy
Leber congenital amaurosis 1

Criteria Provided
Conflicting Classifications

4 SubmittersRCV003064395 RCV004700917 RCV004817199 RCV003992701

NM_020366.4(RPGRIP1):c.1763-2A>G

SNV
Germline

Chr14:21324616

Likely pathogenic

Cone-rod dystrophy 13
Leber congenital amaurosis 6

Criteria Provided
Single Submitter

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

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

1 SubmittersRCV003068133

NM_000329.3(RPE65):c.1039C>T (p.Arg347Cys)

SNV
Germline

Chr1:68438276

Likely pathogenic

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

Reviewed By Expert Panel

3 SubmittersRCV003065733 RCV004572741 RCV004801943

NM_000329.3(RPE65):c.61G>T (p.Glu21Ter)

SNV
Germline

Chr1:68448657

Pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20

Criteria Provided
Single Submitter

1 SubmittersRCV003061518

NM_014336.5(AIPL1):c.364G>A (p.Gly122Arg)

SNV
Germline

Chr17:6428419

Pathogenic

Leber congenital amaurosis 4

Criteria Provided
Single Submitter

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

1 SubmittersRCV003061635

NM_014336.5(AIPL1):c.1090G>A (p.Ala364Thr)

SNV
Germline

Chr17:6425525

Conflicting classifications of pathogenicity

Leber congenital amaurosis 4
Retinal dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

3 SubmittersRCV003088358 RCV004818218 RCV004073120

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

1 SubmittersRCV003088739

NM_022787.4(NMNAT1):c.115+1G>C

SNV
Germline

Chr1:9972189

Likely pathogenic

Leber congenital amaurosis 9

Criteria Provided
Single Submitter

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

2 SubmittersRCV002644352 RCV002644351

NM_201253.3(CRB1):c.4005+2T>G

SNV
Germline

Chr1:197442294

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

1 SubmittersRCV002651390

NM_201253.3(CRB1):c.4006-1G>A

SNV
Germline

Chr1:197477663

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

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

2 SubmittersRCV002634266 RCV003465991

NM_000329.3(RPE65):c.311G>A (p.Gly104Asp)

SNV
Germline

Chr1:68444818

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

1 SubmittersRCV002634293

NM_000329.3(RPE65):c.310G>A (p.Gly104Ser)

SNV
Germline

Chr1:68444819

Pathogenic/Likely pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2
Leber congenital amaurosis 2

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002634294 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
Leber congenital amaurosis 8
not specified
Retinitis pigmentosa 12

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002651385 RCV003455745 RCV003455744 RCV003324081 RCV003455743

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

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

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

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

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

1 SubmittersRCV002651389

NM_201253.3(CRB1):c.3914C>T (p.Pro1305Leu)

SNV
Germline

Chr1:197442201

Pathogenic/Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002664202 RCV003475520

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

1 SubmittersRCV002633018

NM_201253.3(CRB1):c.3145T>C (p.Ser1049Pro)

SNV
Germline

Chr1:197435008

Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

1 SubmittersRCV002594786

NM_201253.3(CRB1):c.1405T>G (p.Cys469Gly)

SNV
Germline

Chr1:197421233

Conflicting classifications of pathogenicity

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8
not specified

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002614384 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

1 SubmittersRCV002635361

NM_201253.3(CRB1):c.549C>A (p.Cys183Ter)

SNV
Germline

Chr1:197328900

Pathogenic/Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002671469 RCV003475411

NM_201253.3(CRB1):c.2885T>A (p.Leu962Ter)

SNV
Germline

Chr1:197434748

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

1 SubmittersRCV002690589

NM_201253.3(CRB1):c.3913C>G (p.Pro1305Ala)

SNV
Germline

Chr1:197442200

Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

1 SubmittersRCV002686099

NM_201253.3(CRB1):c.2695G>A (p.Gly899Arg)

SNV
Germline

Chr1:197429467

Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

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

1 SubmittersRCV002790651

NM_201253.3(CRB1):c.2264T>C (p.Leu755Ser)

SNV
Germline

Chr1:197427589

Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

1 SubmittersRCV002776168

NM_000329.3(RPE65):c.1291T>C (p.Tyr431His)

SNV
Germline

Chr1:68431329

Conflicting classifications of pathogenicity

Retinitis pigmentosa 20
Leber congenital amaurosis 2
Retinal dystrophy

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002770833 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

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

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

1 SubmittersRCV002819785

NM_000329.3(RPE65):c.1293C>A (p.Tyr431Ter)

SNV
Germline

Chr1:68431327

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

1 SubmittersRCV002829784

NM_000329.3(RPE65):c.1243+1G>C

SNV
Germline

Chr1:68431470

Likely pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Multiple Submitters
No Conflicts

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

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

1 SubmittersRCV002858692

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

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

1 SubmittersRCV002885100

NM_201253.3(CRB1):c.117C>A (p.Cys39Ter)

SNV
Germline

Chr1:197328468

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

1 SubmittersRCV002853215

NM_152443.3(RDH12):c.659-1G>A

SNV
Germline

Chr14:67729190

Likely pathogenic

Leber congenital amaurosis 13

Criteria Provided
Single Submitter

1 SubmittersRCV002853359

NM_014336.5(AIPL1):c.97-1G>A

SNV
Germline

Chr17:6434099

Likely pathogenic

Leber congenital amaurosis 4

Criteria Provided
Single Submitter

1 SubmittersRCV002876610

NM_201253.3(CRB1):c.3853T>G (p.Cys1285Gly)

SNV
Germline

Chr1:197438650

Conflicting classifications of pathogenicity

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Condition: not provided

Criteria Provided
Conflicting Classifications

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

1 SubmittersRCV002848016

NM_000329.3(RPE65):c.411C>A (p.Tyr137Ter)

SNV
Germline

Chr1:68444615

Pathogenic/Likely pathogenic

Leber congenital amaurosis 2
Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Multiple Submitters
No Conflicts

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

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

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

1 SubmittersRCV002867673

NM_201253.3(CRB1):c.2842T>G (p.Cys948Gly)

SNV
Germline

Chr1:197429614

Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

1 SubmittersRCV002943326

NM_201253.3(CRB1):c.2087G>A (p.Cys696Tyr)

SNV
Germline

Chr1:197421915

Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

1 SubmittersRCV002949588

NM_022787.4(NMNAT1):c.165C>G (p.Tyr55Ter)

SNV
Germline

Chr1:9975641

Pathogenic

Leber congenital amaurosis 9

Criteria Provided
Single Submitter

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

2 SubmittersRCV003011529 RCV004068463

NM_000554.6(CRX):c.100+2T>G

SNV
Germline

Chr19:47834545

Pathogenic

Cone-rod dystrophy 2
Leber congenital amaurosis 7

Criteria Provided
Single Submitter

1 SubmittersRCV003008305

NM_018418.5(SPATA7):c.1090G>T (p.Glu364Ter)

SNV
Germline

Chr14:88433142

Pathogenic

Leber congenital amaurosis 3

Criteria Provided
Single Submitter

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

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

1 SubmittersRCV003023276

NM_001164688.2(RD3):c.238C>T (p.Gln80Ter)

SNV
Germline

Chr1:211481178

Pathogenic

Leber congenital amaurosis 12

Criteria Provided
Single Submitter

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

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

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

1 SubmittersRCV003026335

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

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

1 SubmittersRCV003050338

NM_152443.3(RDH12):c.848+1G>C

SNV
Germline

Chr14:67729381

Pathogenic

Leber congenital amaurosis 13

Criteria Provided
Single Submitter

1 SubmittersRCV003056244

NM_000180.4(GUCY2D):c.2264-1G>A

SNV
Germline

Chr17:8013879

Likely pathogenic

Leber congenital amaurosis 1
Cone-rod dystrophy 6

Criteria Provided
Single Submitter

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

1 SubmittersRCV003040565

NM_022787.4(NMNAT1):c.648G>A (p.Trp216Ter)

SNV
Germline

Chr1:9982509

Pathogenic

Leber congenital amaurosis 9

Criteria Provided
Single Submitter

1 SubmittersRCV003048100

NM_020366.4(RPGRIP1):c.3620T>G (p.Leu1207Ter)

SNV
Germline

Chr14:21348174

Likely pathogenic

Leber congenital amaurosis

Criteria Provided
Single Submitter

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

2 SubmittersRCV003133792 RCV003778716

NM_003322.6(TULP1):c.1518C>A (p.Phe506Leu)

SNV
Germline

Chr6:35498438

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Leber congenital amaurosis 15

Criteria Provided
Conflicting Classifications

3 SubmittersRCV003139197 RCV004783041 RCV004820942

NM_014336.5(AIPL1):c.40A>G (p.Lys14Glu)

SNV
Unknown

Chr17:6435065

Likely pathogenic

Leber congenital amaurosis 4

Criteria Provided
Single Submitter

1 SubmittersRCV003152894

NM_018418.5(SPATA7):c.136C>T (p.Gln46Ter)

SNV
Germline

Chr14:88393434

Likely pathogenic

Leber congenital amaurosis

Criteria Provided
Single Submitter

1 SubmittersRCV003155610

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

SNV
Germline

Chr1:68439644

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV003226664 RCV003779809 RCV003466042

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

2 SubmittersRCV003228863 RCV003475547

NM_018418.5(SPATA7):c.283C>T (p.Gln95Ter)

SNV
Germline

Chr14:88416755

Likely pathogenic

Leber congenital amaurosis

Criteria Provided
Single Submitter

1 SubmittersRCV003324679

NM_000180.4(GUCY2D):c.2952C>A (p.Cys984Ter)

SNV
Germline

Chr17:8015750

Pathogenic/Likely pathogenic

Cone-rod dystrophy 6
Leber congenital amaurosis 1
Leber congenital amaurosis 1

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003777438 RCV003337852

NM_001122769.3(LCA5):c.346C>T (p.Gln116Ter)

SNV
Unknown

Chr6:79513586

Pathogenic

Leber congenital amaurosis 5

Criteria Provided
Single Submitter

1 SubmittersRCV003389570

NM_015272.5(RPGRIP1L):c.872A>G (p.Gln291Arg)

SNV
Unknown

Chr16:53675027

Likely pathogenic

Leber congenital amaurosis

Criteria Provided
Single Submitter

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

1 SubmittersRCV003471818

NM_152443.3(RDH12):c.178G>A (p.Ala60Thr)

SNV
Unknown

Chr14:67724582

Pathogenic

Leber congenital amaurosis 13

Criteria Provided
Single Submitter

1 SubmittersRCV003463492

NM_152443.3(RDH12):c.617C>T (p.Ala206Val)

SNV
Germline

Chr14:67727149

Pathogenic/Likely pathogenic

Leber congenital amaurosis 13

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003463494

NM_152443.3(RDH12):c.188-2A>G

SNV
Germline

Chr14:67725097

Likely pathogenic

Leber congenital amaurosis 13

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003471821

NM_152443.3(RDH12):c.187+1G>C

SNV
Unknown

Chr14:67724592

Likely pathogenic

Leber congenital amaurosis 13

Criteria Provided
Single Submitter

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

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

1 SubmittersRCV003466242

NM_000329.3(RPE65):c.1339-1G>C

SNV
Unknown

Chr1:68431177

Likely pathogenic

Leber congenital amaurosis 2

Criteria Provided
Single Submitter

1 SubmittersRCV003466246

NM_000329.3(RPE65):c.999-1G>T

SNV
Unknown

Chr1:68438317

Pathogenic

Leber congenital amaurosis 2

Criteria Provided
Single Submitter

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

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

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

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

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

1 SubmittersRCV003466257

NM_000329.3(RPE65):c.859-1G>A

SNV
Unknown

Chr1:68439082

Likely pathogenic

Leber congenital amaurosis 2

Criteria Provided
Single Submitter

1 SubmittersRCV003466258

NM_001122769.3(LCA5):c.955+1G>A

SNV
Unknown

Chr6:79492550

Likely pathogenic

Leber congenital amaurosis 5

Criteria Provided
Single Submitter

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

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

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

1 SubmittersRCV003469937

NM_001122769.3(LCA5):c.1099-1G>A

SNV
Unknown

Chr6:79489217

Likely pathogenic

Leber congenital amaurosis 5

Criteria Provided
Single Submitter

1 SubmittersRCV003469939

NM_201253.3(CRB1):c.2172T>A (p.Tyr724Ter)

SNV
Germline

Chr1:197427497

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003475747 RCV003779164

NM_201253.3(CRB1):c.918G>A (p.Trp306Ter)

SNV
Unknown

Chr1:197347409

Likely pathogenic

Leber congenital amaurosis 8

Criteria Provided
Single Submitter

1 SubmittersRCV003475748

NM_201253.3(CRB1):c.1078G>T (p.Glu360Ter)

SNV
Unknown

Chr1:197356920

Likely pathogenic

Leber congenital amaurosis 8

Criteria Provided
Single Submitter

1 SubmittersRCV003475750

NM_201253.3(CRB1):c.3749+1G>C

SNV
Unknown

Chr1:197435613

Likely pathogenic

Leber congenital amaurosis 8

Criteria Provided
Single Submitter

1 SubmittersRCV003475751

NM_201253.3(CRB1):c.3415C>T (p.Gln1139Ter)

SNV
Unknown

Chr1:197435278

Likely pathogenic

Leber congenital amaurosis 8

Criteria Provided
Single Submitter

1 SubmittersRCV003475755

NM_201253.3(CRB1):c.1465G>T (p.Glu489Ter)

SNV
Unknown

Chr1:197421293

Pathogenic

Leber congenital amaurosis 8

Criteria Provided
Single Submitter

1 SubmittersRCV003475756

NM_201253.3(CRB1):c.848+2T>C

SNV
Unknown

Chr1:197344478

Likely pathogenic

Leber congenital amaurosis 8

Criteria Provided
Single Submitter

1 SubmittersRCV003475758

NM_201253.3(CRB1):c.2677-1G>T

SNV
Unknown

Chr1:197429448

Likely pathogenic

Leber congenital amaurosis 8

Criteria Provided
Single Submitter

1 SubmittersRCV003475759

NM_201253.3(CRB1):c.624T>G (p.Tyr208Ter)

SNV
Germline

Chr1:197328975

Pathogenic/Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

2 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

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

1 SubmittersRCV003475766

NM_201253.3(CRB1):c.3157A>G (p.Met1053Val)

SNV
Unknown

Chr1:197435020

Likely pathogenic

Leber congenital amaurosis 8

Criteria Provided
Single Submitter

1 SubmittersRCV003475771

NM_201253.3(CRB1):c.2035C>T (p.Gln679Ter)

SNV
Unknown

Chr1:197421863

Likely pathogenic

Leber congenital amaurosis 8

Criteria Provided
Single Submitter

1 SubmittersRCV003475773

NM_201253.3(CRB1):c.2676+1G>A

SNV
Unknown

Chr1:197428002

Likely pathogenic

Leber congenital amaurosis 8

Criteria Provided
Single Submitter

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

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

1 SubmittersRCV003475783

NM_201253.3(CRB1):c.1003C>T (p.Gln335Ter)

SNV
Unknown

Chr1:197356845

Likely pathogenic

Leber congenital amaurosis 8

Criteria Provided
Single Submitter

1 SubmittersRCV003475786

NM_201253.3(CRB1):c.2246C>G (p.Ser749Ter)

SNV
Unknown

Chr1:197427571

Likely pathogenic

Leber congenital amaurosis 8

Criteria Provided
Single Submitter

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

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

2 SubmittersRCV003475790 RCV004818356

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

3 SubmittersRCV003499983 RCV004701736

NM_014336.5(AIPL1):c.809G>A (p.Arg270His)

SNV
Germline

Chr17:6425806

Likely pathogenic

Leber congenital amaurosis 4

Criteria Provided
Single Submitter

1 SubmittersRCV003506581

NM_014336.5(AIPL1):c.572T>C (p.Leu191Pro)

SNV
Germline

Chr17:6426951

Pathogenic

Leber congenital amaurosis 4

Criteria Provided
Single Submitter

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

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

1 SubmittersRCV003527180

NM_014336.5(AIPL1):c.88G>T (p.Gly30Ter)

SNV
Germline

Chr17:6435017

Pathogenic

Leber congenital amaurosis 4

Criteria Provided
Single Submitter

1 SubmittersRCV003504839

NM_014336.5(AIPL1):c.454G>T (p.Glu152Ter)

SNV
Germline

Chr17:6428329

Pathogenic

Leber congenital amaurosis 4

Criteria Provided
Single Submitter

1 SubmittersRCV003614482

NM_014336.5(AIPL1):c.1A>G (p.Met1Val)

SNV
Germline

Chr17:6435104

Pathogenic

Leber congenital amaurosis 4

Criteria Provided
Single Submitter

1 SubmittersRCV003613535

NM_152443.3(RDH12):c.843C>G (p.Tyr281Ter)

SNV
Germline

Chr14:67729375

Pathogenic

Leber congenital amaurosis 13

Criteria Provided
Single Submitter

1 SubmittersRCV003604294

NM_014336.5(AIPL1):c.621C>A (p.Cys207Ter)

SNV
Germline

Chr17:6426902

Pathogenic

Leber congenital amaurosis 4

Criteria Provided
Single Submitter

1 SubmittersRCV003614000

NM_022787.4(NMNAT1):c.254G>A (p.Trp85Ter)

SNV
Germline

Chr1:9975730

Pathogenic

Leber congenital amaurosis 9

Criteria Provided
Single Submitter

1 SubmittersRCV003639347

NM_152443.3(RDH12):c.343+1G>A

SNV
Germline

Chr14:67725255

Pathogenic

Leber congenital amaurosis 13

Criteria Provided
Single Submitter

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

1 SubmittersRCV003785526

NM_000554.6(CRX):c.682C>T (p.Gln228Ter)

SNV
Germline

Chr19:47839749

Pathogenic

Cone-rod dystrophy 2
Leber congenital amaurosis 7

Criteria Provided
Single Submitter

1 SubmittersRCV003783737

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

1 SubmittersRCV003781938

NM_201253.3(CRB1):c.2129-1G>A

SNV
Germline

Chr1:197427453

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

1 SubmittersRCV003797797

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

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

1 SubmittersRCV003782856

NM_000329.3(RPE65):c.725+1G>T

SNV
Germline

Chr1:68439560

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

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

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

1 SubmittersRCV003780947

NM_201253.3(CRB1):c.2371G>C (p.Gly791Arg)

SNV
Germline

Chr1:197427696

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

1 SubmittersRCV003780956

NM_201253.3(CRB1):c.2815T>G (p.Cys939Gly)

SNV
Germline

Chr1:197429587

Pathogenic/Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003780959 RCV004573304

NM_201253.3(CRB1):c.2966T>C (p.Ile989Thr)

SNV
Germline

Chr1:197434829

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

1 SubmittersRCV003780960

NM_201253.3(CRB1):c.3687C>A (p.Cys1229Ter)

SNV
Germline

Chr1:197435550

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
CRB1-related disorder

Criteria Provided
Single Submitter

2 SubmittersRCV003780962 RCV004539124

NM_000180.4(GUCY2D):c.186G>A (p.Trp62Ter)

SNV
Germline

Chr17:8003233

Pathogenic

Cone-rod dystrophy 6
Leber congenital amaurosis 1

Criteria Provided
Single Submitter

1 SubmittersRCV003783692

NM_000180.4(GUCY2D):c.308A>T (p.Glu103Val)

SNV
Germline

Chr17:8003355

Pathogenic

Cone-rod dystrophy 6
Leber congenital amaurosis 1

Criteria Provided
Single Submitter

1 SubmittersRCV003783693

NM_000180.4(GUCY2D):c.450G>A (p.Trp150Ter)

SNV
Germline

Chr17:8003497

Pathogenic

Cone-rod dystrophy 6
Leber congenital amaurosis 1

Criteria Provided
Single Submitter

1 SubmittersRCV003783694

NM_000180.4(GUCY2D):c.1116G>A (p.Trp372Ter)

SNV
Germline

Chr17:8006452

Pathogenic

Cone-rod dystrophy 6
Leber congenital amaurosis 1

Criteria Provided
Single Submitter

1 SubmittersRCV003783697

NM_000180.4(GUCY2D):c.2080C>T (p.Gln694Ter)

SNV
Germline

Chr17:8012573

Pathogenic

Cone-rod dystrophy 6
Leber congenital amaurosis 1

Criteria Provided
Single Submitter

1 SubmittersRCV003783699

NM_000180.4(GUCY2D):c.2113+1G>A

SNV
Germline

Chr17:8012607

Pathogenic

Cone-rod dystrophy 6
Leber congenital amaurosis 1

Criteria Provided
Single Submitter

1 SubmittersRCV003783700

NM_000180.4(GUCY2D):c.2576+1G>A

SNV
Germline

Chr17:8014765

Likely pathogenic

Cone-rod dystrophy 6
Leber congenital amaurosis 1

Criteria Provided
Single Submitter

1 SubmittersRCV003783701

NM_000180.4(GUCY2D):c.3020C>T (p.Ser1007Leu)

SNV
Germline

Chr17:8015818

Likely pathogenic

Cone-rod dystrophy 6
Leber congenital amaurosis 1

Criteria Provided
Single Submitter

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

1 SubmittersRCV003781154

NM_000554.6(CRX):c.606C>A (p.Cys202Ter)

SNV
Germline

Chr19:47839673

Pathogenic

Cone-rod dystrophy 2
Leber congenital amaurosis 7

Criteria Provided
Single Submitter

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

1 SubmittersRCV003793278

NM_025114.4(CEP290):c.2258C>A (p.Ser753Ter)

SNV
Germline

Chr12:88111311

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003780009 RCV004796843

NM_000329.3(RPE65):c.12-2A>T

SNV
Germline

Chr1:68448708

Likely pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

1 SubmittersRCV003782613

NM_201253.3(CRB1):c.222C>A (p.Cys74Ter)

SNV
Germline

Chr1:197328573

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

1 SubmittersRCV003787130

NM_201253.3(CRB1):c.1623C>A (p.Tyr541Ter)

SNV
Germline

Chr1:197421451

Pathogenic/Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8
Leber congenital amaurosis 8

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003789290 RCV004573312

NM_201253.3(CRB1):c.2129-2A>G

SNV
Germline

Chr1:197427452

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

1 SubmittersRCV003792849

NM_000329.3(RPE65):c.644-1G>A

SNV
Germline

Chr1:68439643

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

1 SubmittersRCV003795314

NM_201253.3(CRB1):c.1571T>C (p.Leu524Pro)

SNV
Germline

Chr1:197421399

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

1 SubmittersRCV003790162

NM_000329.3(RPE65):c.1250A>G (p.Glu417Gly)

SNV
Germline

Chr1:68431370

Likely pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

1 SubmittersRCV003790390

NM_020366.4(RPGRIP1):c.2236G>A (p.Gly746Arg)

SNV
Germline

Chr14:21325252

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003788383 RCV004759292

NM_000180.4(GUCY2D):c.1753C>T (p.Gln585Ter)

SNV
Germline

Chr17:8012147

Pathogenic

Cone-rod dystrophy 6
Leber congenital amaurosis 1

Criteria Provided
Single Submitter

1 SubmittersRCV003786522

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

1 SubmittersRCV003784984

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

SNV
Germline

Chr1:68439190

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

1 SubmittersRCV003794227

NM_201253.3(CRB1):c.3898G>T (p.Glu1300Ter)

SNV
Germline

Chr1:197442185

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

1 SubmittersRCV003806234

NM_201253.3(CRB1):c.2687G>T (p.Cys896Phe)

SNV
Germline

Chr1:197429459

Conflicting classifications of pathogenicity

not specified
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004801403 RCV003808255

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

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

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

1 SubmittersRCV003790886

NM_020366.4(RPGRIP1):c.3100-1G>A

SNV
Germline

Chr14:21330248

Likely pathogenic

Leber congenital amaurosis 6
Cone-rod dystrophy 13
Retinal dystrophy

Criteria Provided
Single Submitter

2 SubmittersRCV003791448 RCV004818414

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

2 SubmittersRCV003805986 RCV004527467

NM_201253.3(CRB1):c.70+1G>C

SNV
Germline

Chr1:197268483

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

1 SubmittersRCV003803957

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

1 SubmittersRCV003799195

NM_201253.3(CRB1):c.4207G>A (p.Glu1403Lys)

SNV
Germline

Chr1:197477865

Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

1 SubmittersRCV003800612

NM_201253.3(CRB1):c.2548G>T (p.Gly850Cys)

SNV
Germline

Chr1:197427873

Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

1 SubmittersRCV003803136

NM_201253.3(CRB1):c.3288T>A (p.Cys1096Ter)

SNV
Germline

Chr1:197435151

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

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

1 SubmittersRCV003801208

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

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

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

1 SubmittersRCV003800685

NM_000180.4(GUCY2D):c.51C>A (p.Cys17Ter)

SNV
Germline

Chr17:8003098

Pathogenic

Cone-rod dystrophy 6
Leber congenital amaurosis 1

Criteria Provided
Single Submitter

1 SubmittersRCV003800805

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

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

1 SubmittersRCV003804670

NM_018418.5(SPATA7):c.372+1G>A

SNV
Germline

Chr14:88416845

Likely pathogenic

Leber congenital amaurosis 3

Criteria Provided
Single Submitter

1 SubmittersRCV003801888

NM_201253.3(CRB1):c.570T>A (p.Cys190Ter)

SNV
Germline

Chr1:197328921

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

1 SubmittersRCV003817820

NM_201253.3(CRB1):c.3914C>G (p.Pro1305Arg)

SNV
Germline

Chr1:197442201

Likely pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

1 SubmittersRCV003809826

NM_000329.3(RPE65):c.513T>A (p.Tyr171Ter)

SNV
Germline

Chr1:68440983

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

1 SubmittersRCV003815220

NM_201253.3(CRB1):c.2297G>A (p.Trp766Ter)

SNV
Germline

Chr1:197427622

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

1 SubmittersRCV003815433

NM_201253.3(CRB1):c.2587G>T (p.Glu863Ter)

SNV
Germline

Chr1:197427912

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

1 SubmittersRCV003807353

NM_020366.4(RPGRIP1):c.1309C>T (p.Gln437Ter)

SNV
Germline

Chr14:21320019

Pathogenic

Cone-rod dystrophy 13
Leber congenital amaurosis 6

Criteria Provided
Single Submitter

1 SubmittersRCV003807396

NM_201253.3(CRB1):c.3495T>A (p.Cys1165Ter)

SNV
Germline

Chr1:197435358

Pathogenic

Retinitis pigmentosa 12
Leber congenital amaurosis 8

Criteria Provided
Single Submitter

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

1 SubmittersRCV003810575

NM_201253.3(CRB1):c.2129-1G>T

SNV
Germline

Chr1:197427453

Pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Single Submitter

1 SubmittersRCV003813016

NM_000329.3(RPE65):c.1299T>A (p.Tyr433Ter)

SNV
Germline

Chr1:68431321

Pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

1 SubmittersRCV003807241

NM_000329.3(RPE65):c.859-2A>C

SNV
Germline

Chr1:68439083

Likely pathogenic

Retinitis pigmentosa 20
Leber congenital amaurosis 2

Criteria Provided
Single Submitter

1 SubmittersRCV003805052

NM_201253.3(CRB1):c.1244T>A (p.Leu415Ter)

SNV
Germline

Chr1:197421072

Pathogenic/Likely pathogenic

Leber congenital amaurosis 8
Retinitis pigmentosa 12
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

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

1 SubmittersRCV003839591

NM_000329.3(RPE65):c.825C>A (p.Tyr275Ter)

SNV
Germline

Chr1:68439224

Pathogenic

RPE65-related recessive retinopathy
Leber congenital amaurosis 2

Reviewed By Expert Panel

2 SubmittersRCV003881705 RCV004573380

NM_024426.6(WT1):c.1208G>T (p.Cys403Phe)

SNV
Germline

Chr11:32396313

Likely pathogenic

WT1-related disorder
Leber congenital amaurosis 10

Criteria Provided
Single Submitter

2 SubmittersRCV004550974 RCV004820960

NM_025114.4(CEP290):c.1359+1G>T

SNV
Germline

Chr12:88120996

Likely pathogenic

Leber congenital amaurosis 10

Criteria Provided
Single Submitter

1 SubmittersRCV003991657

NM_201253.3(CRB1):c.1690G>T (p.Asp564Tyr)

SNV
Germline

Chr1:197421518

Pathogenic/Likely pathogenic

Leber congenital amaurosis 8
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004573485 RCV004579629

NM_152443.3(RDH12):c.867G>A (p.Trp289Ter)

SNV
Unknown

Chr14:67733764

Likely pathogenic

Leber congenital amaurosis 13

Criteria Provided
Single Submitter

1 SubmittersRCV004574718

NM_000329.3(RPE65):c.1398C>G (p.Tyr466Ter)

SNV
Unknown

Chr1:68431117

Pathogenic

Leber congenital amaurosis 2

Criteria Provided
Single Submitter

1 SubmittersRCV004574793

NM_201253.3(CRB1):c.3023T>G (p.Leu1008Ter)

SNV
Unknown

Chr1:197434886

Pathogenic

Leber congenital amaurosis 8

Criteria Provided
Single Submitter

1 SubmittersRCV004575696

NM_201253.3(CRB1):c.3429C>A (p.Cys1143Ter)

SNV
Unknown

Chr1:197435292

Likely pathogenic

Leber congenital amaurosis 8

Criteria Provided
Single Submitter

1 SubmittersRCV004575699

NM_201253.3(CRB1):c.988+1G>T

SNV
Unknown

Chr1:197347480

Pathogenic

Leber congenital amaurosis 8

Criteria Provided
Single Submitter

1 SubmittersRCV004575700

NM_201253.3(CRB1):c.2842+1G>A

SNV
Unknown

Chr1:197429615

Likely pathogenic

Leber congenital amaurosis 8

Criteria Provided
Single Submitter

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

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

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

1 SubmittersRCV004576801

NM_001122769.3(LCA5):c.69C>A (p.Tyr23Ter)

SNV
Unknown

Chr6:79518826

Pathogenic

Leber congenital amaurosis 5

Criteria Provided
Single Submitter

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

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

1 SubmittersRCV004576806

NM_001122769.3(LCA5):c.721-2A>T

SNV
Unknown

Chr6:79493752

Likely pathogenic

Leber congenital amaurosis 5

Criteria Provided
Single Submitter

1 SubmittersRCV004576807

NM_000329.3(RPE65):c.540C>A (p.His180Gln)

SNV
Germline

Chr1:68440956

Likely pathogenic

Leber congenital amaurosis

Criteria Provided
Single Submitter

1 SubmittersRCV004586291

NM_025114.4(CEP290):c.5364+1G>A

SNV
Germline

Chr12:88079091

Likely pathogenic

Leber congenital amaurosis 10

Criteria Provided
Single Submitter

1 SubmittersRCV004596667

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_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_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