Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
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 Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA252077	rs_28940313	8 SubmittersRCV000002127 RCV001073384 RCV001092306 RCV006638516
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	16 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	21 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 Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA252083	rs_104894474	8 SubmittersRCV000002132 RCV000787672 RCV001091054 RCV004814797 RCV006638517
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/Likely pathogenic	Leber congenital amaurosis 13 Retinitis pigmentosa Condition: not provided Retinal dystrophy Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA252087	rs_104894475	8 SubmittersRCV000002135 RCV000787674 RCV001171675 RCV004814798 RCV006638518
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/Likely pathogenic	Leber congenital amaurosis 13 Condition: not provided Leber congenital amaurosis See cases Retinal dystrophy Cone-rod dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA252092	rs_121434337	13 SubmittersRCV000002140 RCV001091055 RCV001826405 RCV004584306 RCV004814799 RCV003324481
NM_152443.3(RDH12):c.377C>T (p.Ala126Val)	SNV Germline	Chr14:67726084	Pathogenic/Likely pathogenic	Retinitis pigmentosa 53 Retinitis pigmentosa Retinal dystrophy Leber congenital amaurosis 13 Condition: not provided Leber congenital amaurosis RDH12-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA115315	rs_202126574	12 SubmittersRCV000002142 RCV000132691 RCV001073666 RCV001223788 RCV001558134 RCV003155010 RCV004734494
NM_152443.3(RDH12):c.195A>C (p.Arg65=)	SNV Germline	Chr14:67725106	Conflicting classifications of pathogenicity	Condition: not provided Retinitis pigmentosa Leber congenital amaurosis 13	Criteria Provided Conflicting Classifications	CA246260	rs_771614823	3 SubmittersRCV000179017 RCV001109344 RCV001430505
NM_152443.3(RDH12):c.300C>T (p.Ser100=)	SNV Germline	Chr14:67725211	Conflicting classifications of pathogenicity	Condition: not provided Leber congenital amaurosis 13 Retinitis pigmentosa Leber congenital amaurosis	Criteria Provided Conflicting Classifications	CA246262	rs_746513362	4 SubmittersRCV000179018 RCV001088243 RCV001109346 RCV001275428
NM_152443.3(RDH12):c.302A>G (p.Asp101Gly)	SNV Germline	Chr14:67725213	Conflicting classifications of pathogenicity	Condition: not provided Leber congenital amaurosis 13 Leber congenital amaurosis RDH12-related disorder Autosomal dominant retinitis pigmentosa Leber congenital amaurosis 13	Criteria Provided Conflicting Classifications	CA246265	rs_374675592	6 SubmittersRCV000179020 RCV001316202 RCV001826912 RCV004725029 RCV005863023
NM_152443.3(RDH12):c.848+2T>C	SNV Germline	Chr14:67729382	Pathogenic/Likely pathogenic	Retinal dystrophy Leber congenital amaurosis 13 Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA10581695	rs_878853338	5 SubmittersRCV000225656 RCV001206727 RCV001833238
NM_152443.3(RDH12):c.910T>C (p.Trp304Arg)	SNV Germline	Chr14:67733807	Pathogenic/Likely pathogenic	Retinal dystrophy Leber congenital amaurosis 13 Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA10581696	rs_878853339	5 SubmittersRCV000225474 RCV001053170 RCV001828100
NM_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 Leber congenital amaurosis	Criteria Provided Conflicting Classifications	CA7238874	rs_61740289	7 SubmittersRCV000293076 RCV001041798 RCV001075352 RCV001277208
NM_152443.3(RDH12):c.701G>A (p.Arg234His)	SNV Germline	Chr14:67729233	Conflicting classifications of pathogenicity	Macular dystrophy Leber congenital amaurosis 13 Leber congenital amaurosis Condition: not provided Retinal dystrophy	Criteria Provided Conflicting Classifications	CA7238798	rs_750636662	11 SubmittersRCV000993746 RCV001243727 RCV001833459 RCV001753776 RCV003324525
NM_152443.3(RDH12):c.283C>T (p.Arg95Trp)	SNV Germline	Chr14:67725194	Conflicting classifications of pathogenicity	Retinitis pigmentosa Leber congenital amaurosis 13 Retinal dystrophy	Criteria Provided Conflicting Classifications	CA7238660	rs_552516182	4 SubmittersRCV001109345 RCV001850657 RCV003888726
NM_152443.3(RDH12):c.662C>T (p.Thr221Ile)	SNV Germline	Chr14:67729194	Conflicting classifications of pathogenicity	Leber congenital amaurosis 13 Retinitis pigmentosa Leber congenital amaurosis Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7238787	rs_769317754	4 SubmittersRCV000955105 RCV001111665 RCV001275436 RCV002520913
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 Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA390148606	rs_1349849938	8 SubmittersRCV000578516 RCV001058196 RCV004817774 RCV006640758
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_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	CA7238739	rs_116733939	14 SubmittersRCV000754982 RCV000993755 RCV001584547 RCV004817913
NM_152443.3(RDH12):c.506G>A (p.Arg169Gln)	SNV Germline	Chr14:67727038	Pathogenic/Likely pathogenic	Leber congenital amaurosis 13 Condition: not provided Leber congenital amaurosis Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA262809235	rs_971610277	9 SubmittersRCV000761341 RCV001530599 RCV006642578 RCV001073859
NM_152443.3(RDH12):c.226G>T (p.Gly76Trp)	SNV Germline	Chr14:67725137	Pathogenic/Likely pathogenic	Retinitis pigmentosa Leber congenital amaurosis 13 Leber congenital amaurosis Retinal dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA262808724	rs_368489658	6 SubmittersRCV000787671 RCV001377219 RCV001830679 RCV004818012 RCV005256681
NM_152443.3(RDH12):c.610A>C (p.Lys204Gln)	SNV Unknown	Chr14:67727142	Likely pathogenic	Retinitis pigmentosa	No Assertion Criteria Provided	CA390151482	rs_1594866237	1 SubmittersRCV000787673
NM_152443.3(RDH12):c.697G>T (p.Val233Phe)	SNV Germline	Chr14:67729229	Likely pathogenic	Retinitis pigmentosa	Criteria Provided Single Submitter	CA390152928	rs_140257538	2 SubmittersRCV000787675
NM_152443.3(RDH12):c.481C>T (p.Arg161Trp)	SNV Germline	Chr14:67727013	Pathogenic/Likely pathogenic	Leber congenital amaurosis 13 Leber congenital amaurosis Cone-rod dystrophy Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA7238728	rs_759408031	8 SubmittersRCV000797267 RCV001277204 RCV002267742 RCV003889988
NM_152443.3(RDH12):c.609C>A (p.Ser203Arg)	SNV Germline	Chr14:67727141	Conflicting classifications of pathogenicity	Leber congenital amaurosis 13 Leber congenital amaurosis Retinal dystrophy	Criteria Provided Conflicting Classifications	CA7238759	rs_753959716	6 SubmittersRCV000821787 RCV001830813 RCV004794462
NM_152443.3(RDH12):c.883C>T (p.Arg295Ter)	SNV Germline	Chr14:67733780	Pathogenic/Likely pathogenic	Leber congenital amaurosis 13 Condition: not provided Retinitis pigmentosa Retinal dystrophy Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA7238876	rs_200387832	11 SubmittersRCV000811812 RCV001171676 RCV000993757 RCV001074674 RCV006642653
NM_152443.3(RDH12):c.806C>G (p.Ala269Gly)	SNV Germline	Chr14:67729338	Conflicting classifications of pathogenicity	Leber congenital amaurosis 13 Retinal dystrophy Leber congenital amaurosis Macular dystrophy with or without cone dysfunction	Criteria Provided Conflicting Classifications	CA7238822	rs_116802390	8 SubmittersRCV000945760 RCV001073956 RCV003230606 RCV005235499
NM_152443.3(RDH12):c.138C>T (p.Gly46=)	SNV Germline	Chr14:67724542	Conflicting classifications of pathogenicity	Leber congenital amaurosis 13 Retinitis Pigmentosa, Recessive	Criteria Provided Conflicting Classifications	CA7238609	rs_140371232	2 SubmittersRCV000884795 RCV001114991
NM_152443.3(RDH12):c.125T>C (p.Val42Ala)	SNV Unknown	Chr14:67724529	Likely pathogenic	Leber congenital amaurosis 13	Criteria Provided Single Submitter	CA390147909	rs_1594865036	1 SubmittersRCV000989237
NM_152443.3(RDH12):c.178G>C (p.Ala60Pro)	SNV Germline	Chr14:67724582	Likely pathogenic	Leber congenital amaurosis 13	Criteria Provided Multiple Submitters No Conflicts	CA390148335	rs_749038454	2 SubmittersRCV000989238
NM_152443.3(RDH12):c.325G>C (p.Ala109Pro)	SNV Germline	Chr14:67725236	Conflicting classifications of pathogenicity	Leber congenital amaurosis 13	Criteria Provided Conflicting Classifications	CA390148856	rs_1594865434	2 SubmittersRCV000989239
NM_152443.3(RDH12):c.164C>T (p.Thr55Met)	SNV Germline	Chr14:67724568	Pathogenic/Likely pathogenic	Leber congenital amaurosis 13 Leber congenital amaurosis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA7238616	rs_766631462	11 SubmittersRCV000993753 RCV001003153 RCV001091052
NM_152443.3(RDH12):c.440A>C (p.Asn147Thr)	SNV Germline	Chr14:67726147	Conflicting classifications of pathogenicity	Macular dystrophy Retinal dystrophy Leber congenital amaurosis 13	Criteria Provided Conflicting Classifications	CA390150338	rs_1566847499	3 SubmittersRCV000993750 RCV001075448 RCV005012423
NM_152443.3(RDH12):c.619A>G (p.Asn207Asp)	SNV Germline	Chr14:67727151	Pathogenic/Likely pathogenic	Macular dystrophy Leber congenital amaurosis 13 RDH12-related disorder Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA7238762	rs_745871149	6 SubmittersRCV000993749 RCV001255717 RCV004735926 RCV006642698
NM_152443.3(RDH12):c.697G>A (p.Val233Ile)	SNV Germline	Chr14:67729229	Likely pathogenic	Macular dystrophy Leber congenital amaurosis 13	Criteria Provided Multiple Submitters No Conflicts	CA390152927	rs_140257538	3 SubmittersRCV000993751 RCV005012424
NM_152443.3(RDH12):c.821T>C (p.Leu274Pro)	SNV Germline	Chr14:67729353	Pathogenic/Likely pathogenic	Retinitis pigmentosa Condition: not provided Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA390153397	rs_1594867597	3 SubmittersRCV001003158 RCV001597241 RCV006642713
NM_152443.3(RDH12):c.599A>C (p.Tyr200Ser)	SNV Germline	Chr14:67727131	Pathogenic	Retinitis pigmentosa	Criteria Provided Single Submitter	CA390151427	rs_1163040913	1 SubmittersRCV001199532
NM_152443.3(RDH12):c.149G>A (p.Gly50Asp)	SNV Germline	Chr14:67724553	Likely pathogenic	Leber congenital amaurosis 13	No Assertion Criteria Provided	CA390148112	rs_1594865064	1 SubmittersRCV001029918
NM_152443.3(RDH12):c.139G>A (p.Ala47Thr)	SNV Germline	Chr14:67724543	Pathogenic/Likely pathogenic	Leber congenital amaurosis 13 Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA7238610	rs_761231974	7 SubmittersRCV001057696 RCV001420746
NM_152443.3(RDH12):c.316C>T (p.Arg106Ter)	SNV Germline	Chr14:67725227	Pathogenic	Leber congenital amaurosis 13 Condition: not provided Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA7238666	rs_752242512	6 SubmittersRCV001036749 RCV001091053 RCV001827217
NM_152443.3(RDH12):c.437T>A (p.Val146Asp)	SNV Germline	Chr14:67726144	Pathogenic	Leber congenital amaurosis 13 Leber congenital amaurosis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA262808941	rs_116649873	6 SubmittersRCV001043608 RCV001277203 RCV005432544
NM_152443.3(RDH12):c.912G>A (p.Trp304Ter)	SNV Germline	Chr14:67733809	Likely pathogenic	Leber congenital amaurosis 13 Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA390154237	rs_2038317129	3 SubmittersRCV001041857 RCV001277209
NM_152443.3(RDH12):c.448+1G>C	SNV Germline	Chr14:67726156	Pathogenic	Leber congenital amaurosis 13 Ovarian serous cystadenocarcinoma Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA7238705	rs_781331005	4 SubmittersRCV001043928 RCV005912459 RCV006642767
NM_152443.3(RDH12):c.284G>A (p.Arg95Gln)	SNV Germline	Chr14:67725195	Conflicting classifications of pathogenicity	Retinal dystrophy Leber congenital amaurosis 13 not specified Leber congenital amaurosis Condition: not provided	Criteria Provided Conflicting Classifications	CA7238661	rs_765914942	5 SubmittersRCV001075651 RCV001243650 RCV002222667 RCV001833694 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 Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA7238701	rs_747257567	6 SubmittersRCV001074758 RCV001225544 RCV002282454 RCV006636594
NM_152443.3(RDH12):c.505C>T (p.Arg169Trp)	SNV Germline	Chr14:67727037	Pathogenic/Likely pathogenic	Retinal dystrophy Leber congenital amaurosis 13 Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA390150768	rs_761167763	5 SubmittersRCV001075351 RCV001212314 RCV003324554
NM_152443.3(RDH12):c.560A>G (p.Asp187Gly)	SNV Germline	Chr14:67727092	Conflicting classifications of pathogenicity	Retinal dystrophy Leber congenital amaurosis 13	Criteria Provided Conflicting Classifications	CA390151126	rs_1262243990	2 SubmittersRCV001074473 RCV001304561
NM_152443.3(RDH12):c.599A>G (p.Tyr200Cys)	SNV Germline	Chr14:67727131	Pathogenic/Likely pathogenic	Retinal dystrophy Leber congenital amaurosis 13 Retinitis pigmentosa	Criteria Provided Multiple Submitters No Conflicts	CA390151429	rs_1163040913	3 SubmittersRCV001075659 RCV001255716 RCV005418990
NM_152443.3(RDH12):c.601T>C (p.Cys201Arg)	SNV Germline	Chr14:67727133	Pathogenic/Likely pathogenic	Retinal dystrophy Leber congenital amaurosis 13	Criteria Provided Multiple Submitters No Conflicts	CA390151439	rs_2038196341	2 SubmittersRCV001073785 RCV001387133
NM_152443.3(RDH12):c.671C>T (p.Thr224Ile)	SNV Germline	Chr14:67729203	Conflicting classifications of pathogenicity	Retinal dystrophy Leber congenital amaurosis 13 not specified	Criteria Provided Conflicting Classifications	CA7238791	rs_200302290	4 SubmittersRCV001075534 RCV001862618 RCV004702631
NM_152443.3(RDH12):c.697G>C (p.Val233Leu)	SNV Germline	Chr14:67729229	Pathogenic/Likely pathogenic	Retinal dystrophy Leber congenital amaurosis 13 Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA7238794	rs_140257538	7 SubmittersRCV001075033 RCV001383004 RCV006636597
NM_152443.3(RDH12):c.715C>T (p.Arg239Trp)	SNV Germline	Chr14:67729247	Pathogenic/Likely pathogenic	Retinal dystrophy Leber congenital amaurosis 13	Criteria Provided Multiple Submitters No Conflicts	CA7238802	rs_751589863	3 SubmittersRCV001073667 RCV002557895
NM_152443.3(RDH12):c.377C>A (p.Ala126Glu)	SNV Germline	Chr14:67726084	Pathogenic/Likely pathogenic	Leber congenital amaurosis 13	Criteria Provided Multiple Submitters No Conflicts	CA390150075	rs_202126574	3 SubmittersRCV001198281
NM_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	CA390150191	rs_1206574200	4 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	CA390150965	rs_2038195054	1 SubmittersRCV001204102
NM_152443.3(RDH12):c.582C>G (p.Tyr194Ter)	SNV Germline	Chr14:67727114	Pathogenic	Leber congenital amaurosis 13 Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA7238756	rs_753074829	3 SubmittersRCV001202459 RCV001833781
NM_152443.3(RDH12):c.38C>A (p.Ser13Ter)	SNV Germline	Chr14:67722680	Pathogenic	Leber congenital amaurosis 13 Lung cancer	No Assertion Criteria Provided	CA262808042	rs_912107188	2 SubmittersRCV001255720 RCV005909232
NM_152443.3(RDH12):c.238G>C (p.Ala80Pro)	SNV Germline	Chr14:67725149	Likely pathogenic	Leber congenital amaurosis 13	No Assertion Criteria Provided	CA262808732	rs_1032626668	1 SubmittersRCV001255721
NM_152443.3(RDH12):c.716G>A (p.Arg239Gln)	SNV Germline	Chr14:67729248	Likely pathogenic	Leber congenital amaurosis 13	Criteria Provided Multiple Submitters No Conflicts	CA390152961	rs_1239043055	3 SubmittersRCV001255719
NM_152443.3(RDH12):c.805G>C (p.Ala269Pro)	SNV Germline	Chr14:67729337	Likely pathogenic	Leber congenital amaurosis 13	No Assertion Criteria Provided	CA390153286	rs_767385752	1 SubmittersRCV001255723
NM_152443.3(RDH12):c.932T>C (p.Leu311Pro)	SNV Germline	Chr14:67733829	Likely pathogenic	Leber congenital amaurosis 13	No Assertion Criteria Provided	CA7238882	rs_769546135	1 SubmittersRCV001255724
NM_152443.3(RDH12):c.448+1G>A	SNV Germline	Chr14:67726156	Pathogenic	Leber congenital amaurosis 13 Leber congenital amaurosis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA390150389	rs_781331005	5 SubmittersRCV001255715 RCV006636765 RCV006698364
NM_152443.3(RDH12):c.659-2A>T	SNV Germline	Chr14:67729189	Likely pathogenic	Leber congenital amaurosis 13	Criteria Provided Multiple Submitters No Conflicts	CA390152852	rs_2038231425	4 SubmittersRCV001255718
NM_152443.3(RDH12):c.226G>A (p.Gly76Arg)	SNV Germline	Chr14:67725137	Pathogenic	Condition: not provided Leber congenital amaurosis 13 Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA7238647	rs_368489658	5 SubmittersRCV001268128 RCV001387781 RCV005236749
NM_152443.3(RDH12):c.146C>A (p.Thr49Lys)	SNV Germline	Chr14:67724550	Pathogenic/Likely pathogenic	Leber congenital amaurosis 13 Cone-rod dystrophy Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA7238613	rs_28940314	5 SubmittersRCV001340739 RCV006270499 RCV006636820
NM_152443.3(RDH12):c.193C>T (p.Arg65Ter)	SNV Germline	Chr14:67725104	Pathogenic/Likely pathogenic	Leber congenital amaurosis 13 Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA7238643	rs_778571042	4 SubmittersRCV001376377 RCV005057345
NM_152443.3(RDH12):c.188-1G>A	SNV Germline	Chr14:67725098	Likely pathogenic	Leber congenital amaurosis 13 Leber congenital amaurosis	Criteria Provided Single Submitter	CA390148467	rs_2140142183	2 SubmittersRCV001377548 RCV001831344
NM_152443.3(RDH12):c.278T>C (p.Leu93Pro)	SNV Germline	Chr14:67725189	Pathogenic/Likely pathogenic	Leber congenital amaurosis 13 Leber congenital amaurosis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA7238658	rs_527800020	9 SubmittersRCV001378468 RCV001836387 RCV006698381
NM_152443.3(RDH12):c.226G>C (p.Gly76Arg)	SNV Germline	Chr14:67725137	Pathogenic/Likely pathogenic	Leber congenital amaurosis 13 Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA262808726	rs_368489658	6 SubmittersRCV001387782 RCV001831398
NM_152443.3(RDH12):c.393T>A (p.Cys131Ter)	SNV Germline	Chr14:67726100	Pathogenic	Leber congenital amaurosis 13	Criteria Provided Single Submitter	CA7238696	rs_755621140	1 SubmittersRCV001384303
NM_152443.3(RDH12):c.524C>A (p.Ser175Ter)	SNV Germline	Chr14:67727056	Pathogenic	Leber congenital amaurosis 13	Criteria Provided Single Submitter	CA390150899	rs_116733939	1 SubmittersRCV001390024
NM_152443.3(RDH12):c.823G>T (p.Glu275Ter)	SNV Germline	Chr14:67729355	Pathogenic	Leber congenital amaurosis 13	Criteria Provided Single Submitter	CA7238823	rs_755909719	1 SubmittersRCV001385535
NM_152443.3(RDH12):c.148G>A (p.Gly50Ser)	SNV Germline	Chr14:67724552	Likely pathogenic	Leber congenital amaurosis 13 Retinitis pigmentosa	Criteria Provided Multiple Submitters No Conflicts	CA390148105	rs_2140141345	3 SubmittersRCV001866151 RCV001591830
NM_152443.3(RDH12):c.616G>A (p.Ala206Thr)	SNV Germline	Chr14:67727148	Pathogenic/Likely pathogenic	Macular dystrophy Leber congenital amaurosis 13	Criteria Provided Single Submitter	CA390151512	rs_2140145599	1 SubmittersRCV001591831 RCV003389498
NM_152443.3(RDH12):c.667G>T (p.Val223Phe)	SNV Germline	Chr14:67729199	Conflicting classifications of pathogenicity	Leber congenital amaurosis Retinal dystrophy	Criteria Provided Conflicting Classifications	CA7238790	rs_370015375	2 SubmittersRCV003399392 RCV001591833
NM_152443.3(RDH12):c.607A>G (p.Ser203Gly)	SNV Germline	Chr14:67727139	Likely pathogenic	Stargardt disease	Criteria Provided Single Submitter	CA390151468	rs_2140145566	1 SubmittersRCV001591834
NM_152443.3(RDH12):c.698T>A (p.Val233Asp)	SNV Germline	Chr14:67729230	Pathogenic	Leber congenital amaurosis	Criteria Provided Single Submitter	CA7238795	rs_144148976	1 SubmittersRCV001733411
NM_152443.3(RDH12):c.449-1G>A	SNV Germline	Chr14:67726980	Likely pathogenic	Leber congenital amaurosis 13	Criteria Provided Single Submitter	CA390150474	rs_2140145142	1 SubmittersRCV001783675
NM_152443.3(RDH12):c.659-2A>C	SNV Germline	Chr14:67729189	Likely pathogenic	Leber congenital amaurosis 13	Criteria Provided Single Submitter	CA390152853	rs_2038231425	1 SubmittersRCV002038789
NM_152443.3(RDH12):c.68+1G>A	SNV Germline	Chr14:67722711	Pathogenic	Leber congenital amaurosis Leber congenital amaurosis 13	Criteria Provided Multiple Submitters No Conflicts	CA390146502	rs_2140138146	3 SubmittersRCV003331233 RCV001964550
NM_152443.3(RDH12):c.69-1G>A	SNV Germline	Chr14:67724472	Likely pathogenic	Leber congenital amaurosis 13	Criteria Provided Single Submitter	CA262808522	rs_373279009	1 SubmittersRCV002017204
NM_152443.3(RDH12):c.133A>G (p.Thr45Ala)	SNV Germline	Chr14:67724537	Pathogenic/Likely pathogenic	Leber congenital amaurosis 13 Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA390147970	rs_1225487694	4 SubmittersRCV002023609 RCV006640863
NM_152443.3(RDH12):c.505C>G (p.Arg169Gly)	SNV Germline	Chr14:67727037	Pathogenic/Likely pathogenic	Leber congenital amaurosis 13 Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA7238734	rs_761167763	5 SubmittersRCV002023658 RCV006640864
NM_152443.3(RDH12):c.866G>A (p.Trp289Ter)	SNV Germline	Chr14:67733763	Conflicting classifications of pathogenicity	Leber congenital amaurosis 13 Retinitis pigmentosa	Criteria Provided Conflicting Classifications	CA390154006	rs_2140162488	2 SubmittersRCV002037755 RCV005419285
NM_152443.3(RDH12):c.449-2A>G	SNV Germline	Chr14:67726979	Likely pathogenic	Leber congenital amaurosis 13	Criteria Provided Single Submitter	CA390150469	rs_2140145138	1 SubmittersRCV002046829
NM_152443.3(RDH12):c.559G>A (p.Asp187Asn)	SNV Germline	Chr14:67727091	Conflicting classifications of pathogenicity	Inborn genetic diseases Leber congenital amaurosis 13	Criteria Provided Conflicting Classifications	CA7238748	rs_115356583	2 SubmittersRCV002644352 RCV002644351
NM_152443.3(RDH12):c.659-1G>A	SNV Germline	Chr14:67729190	Likely pathogenic	Leber congenital amaurosis 13	Criteria Provided Single Submitter	CA390152854	rs_2503831353	1 SubmittersRCV002853359
NM_152443.3(RDH12):c.643G>C (p.Ala215Pro)	SNV Germline	Chr14:67727175	Conflicting classifications of pathogenicity	Leber congenital amaurosis 13 Leber congenital amaurosis	Criteria Provided Conflicting Classifications	CA390151621	rs_2503813041	2 SubmittersRCV003025613 RCV005608829
NM_152443.3(RDH12):c.848+1G>C	SNV Germline	Chr14:67729381	Pathogenic	Leber congenital amaurosis 13	Criteria Provided Single Submitter	CA390153550	rs_745369888	1 SubmittersRCV003056244
NM_152443.3(RDH12):c.164C>A (p.Thr55Lys)	SNV Unknown	Chr14:67724568	Likely pathogenic	Leber congenital amaurosis 13	Criteria Provided Single Submitter	CA390148228	rs_766631462	1 SubmittersRCV003471818
NM_152443.3(RDH12):c.178G>A (p.Ala60Thr)	SNV Germline	Chr14:67724582	Pathogenic/Likely pathogenic	Leber congenital amaurosis 13 Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA7238623	rs_749038454	2 SubmittersRCV003463492 RCV006642952
NM_152443.3(RDH12):c.617C>T (p.Ala206Val)	SNV Germline	Chr14:67727149	Pathogenic/Likely pathogenic	Leber congenital amaurosis 13 Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA390151518	rs_1254096311	3 SubmittersRCV003463494 RCV005407164
NM_152443.3(RDH12):c.188-2A>G	SNV Germline	Chr14:67725097	Likely pathogenic	Leber congenital amaurosis 13	Criteria Provided Multiple Submitters No Conflicts	CA390148456	rs_1228568835	2 SubmittersRCV003471821
NM_152443.3(RDH12):c.187+1G>C	SNV Unknown	Chr14:67724592	Likely pathogenic	Leber congenital amaurosis 13	Criteria Provided Single Submitter	CA390148380	rs_201102789	1 SubmittersRCV003463497
NM_152443.3(RDH12):c.617C>A (p.Ala206Asp)	SNV Germline	Chr14:67727149	Likely pathogenic	Leber congenital amaurosis 13 Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA390151514	rs_1254096311	3 SubmittersRCV003463499 RCV004701069
NM_152443.3(RDH12):c.229G>T (p.Glu77Ter)	SNV Germline	Chr14:67725140	Pathogenic/Likely pathogenic	Leber congenital amaurosis 13 Condition: not provided Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA390148563	rs_2038170208	4 SubmittersRCV003499983 RCV004701736 RCV006643080
NM_152443.3(RDH12):c.843C>G (p.Tyr281Ter)	SNV Germline	Chr14:67729375	Pathogenic	Leber congenital amaurosis 13	Criteria Provided Single Submitter	CA390153513	rs_1344063890	1 SubmittersRCV003604294
NM_152443.3(RDH12):c.343+1G>A	SNV Germline	Chr14:67725255	Pathogenic	Leber congenital amaurosis 13	Criteria Provided Single Submitter	CA390148965	rs_2503799127	1 SubmittersRCV003603835
NM_152443.3(RDH12):c.137G>A (p.Gly46Asp)	SNV Germline	Chr14:67724541	Likely pathogenic	Leber congenital amaurosis 13	No Assertion Criteria Provided			1 SubmittersRCV004691625
NM_152443.3(RDH12):c.106C>T (p.Gln36Ter)	SNV Germline	Chr14:67724510	Pathogenic	Leber congenital amaurosis 13	Criteria Provided Single Submitter	CA390147773	rs_867494661	1 SubmittersRCV003839591
NM_152443.3(RDH12):c.867G>A (p.Trp289Ter)	SNV Germline	Chr14:67733764	Likely pathogenic	Leber congenital amaurosis 13 Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts		rs_757735668	2 SubmittersRCV004574718 RCV005610690
NM_152443.3(RDH12):c.144C>A (p.Asn48Lys)	SNV Germline	Chr14:67724548	Likely pathogenic	Retinal dystrophy	No Assertion Criteria Provided			1 SubmittersRCV004817305
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_152443.3(RDH12):c.433G>A (p.Gly145Arg)	SNV Germline	Chr14:67726140	Likely pathogenic	Retinal dystrophy	Criteria Provided Single Submitter			1 SubmittersRCV004795271
NM_152443.3(RDH12):c.16G>T (p.Gly6Ter)	SNV Germline	Chr14:67722658	Likely pathogenic	Leber congenital amaurosis 13	Criteria Provided Single Submitter			1 SubmittersRCV005005674
NM_152443.3(RDH12):c.352C>T (p.Gln118Ter)	SNV Germline	Chr14:67726059	Pathogenic	Leber congenital amaurosis 13	Criteria Provided Single Submitter			1 SubmittersRCV005127800
NM_152443.3(RDH12):c.659-2A>G	SNV Germline	Chr14:67729189	Pathogenic	Leber congenital amaurosis 13	Criteria Provided Single Submitter			1 SubmittersRCV005253584
NM_152443.3(RDH12):c.434G>A (p.Gly145Glu)	SNV Germline	Chr14:67726141	Likely pathogenic	Leber congenital amaurosis	Criteria Provided Single Submitter			1 SubmittersRCV006457619
NM_152443.3(RDH12):c.69-1G>C	SNV Germline	Chr14:67724472	Likely pathogenic	Leber congenital amaurosis 13	Criteria Provided Single Submitter			1 SubmittersRCV006526536
NM_152443.3(RDH12):c.448+2T>A	SNV Germline	Chr14:67726157	Pathogenic	Leber congenital amaurosis 13	Criteria Provided Single Submitter			1 SubmittersRCV006535020
NM_152443.3(RDH12):c.271C>T (p.Gln91Ter)	SNV Germline	Chr14:67725182	Likely pathogenic	Leber congenital amaurosis	Criteria Provided Single Submitter			1 SubmittersRCV006641897
NM_152443.3(RDH12):c.849-1G>A	SNV Germline	Chr14:67733745	Likely pathogenic	Leber congenital amaurosis	Criteria Provided Single Submitter			1 SubmittersRCV006641899
NM_152443.3(RDH12):c.911G>A (p.Trp304Ter)	SNV Germline	Chr14:67733808	Likely pathogenic	Leber congenital amaurosis	Criteria Provided Single Submitter			1 SubmittersRCV006641900
NM_152443.3(RDH12):c.598T>C (p.Tyr200His)	SNV Germline	Chr14:67727130	Likely pathogenic	Retinitis pigmentosa 40	No Assertion Criteria Provided			1 SubmittersRCV006708272

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
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA252077

rs_28940313

8 SubmittersRCV000002127 RCV001073384 RCV001092306 RCV006638516

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

16 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

21 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
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA252083

rs_104894474

8 SubmittersRCV000002132 RCV000787672 RCV001091054 RCV004814797 RCV006638517

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/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA252087

rs_104894475

8 SubmittersRCV000002135 RCV000787674 RCV001171675 RCV004814798 RCV006638518

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/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA252092

rs_121434337

13 SubmittersRCV000002140 RCV001091055 RCV001826405 RCV004584306 RCV004814799 RCV003324481

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

SNV
Germline

Chr14:67726084

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA115315

rs_202126574

12 SubmittersRCV000002142 RCV000132691 RCV001073666 RCV001223788 RCV001558134 RCV003155010 RCV004734494

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

SNV
Germline

Chr14:67725106

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Leber congenital amaurosis 13

Criteria Provided
Conflicting Classifications

CA246260

rs_771614823

3 SubmittersRCV000179017 RCV001109344 RCV001430505

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

SNV
Germline

Chr14:67725211

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA246262

rs_746513362

4 SubmittersRCV000179018 RCV001088243 RCV001109346 RCV001275428

NM_152443.3(RDH12):c.302A>G (p.Asp101Gly)

SNV
Germline

Chr14:67725213

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 13
Leber congenital amaurosis
RDH12-related disorder
Autosomal dominant retinitis pigmentosa
Leber congenital amaurosis 13

Criteria Provided
Conflicting Classifications

CA246265

rs_374675592

6 SubmittersRCV000179020 RCV001316202 RCV001826912 RCV004725029 RCV005863023

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

SNV
Germline

Chr14:67729382

Pathogenic/Likely pathogenic

Retinal dystrophy
Leber congenital amaurosis 13
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA10581695

rs_878853338

5 SubmittersRCV000225656 RCV001206727 RCV001833238

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

SNV
Germline

Chr14:67733807

Pathogenic/Likely pathogenic

Retinal dystrophy
Leber congenital amaurosis 13
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA10581696

rs_878853339

5 SubmittersRCV000225474 RCV001053170 RCV001828100

NM_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
Leber congenital amaurosis

Criteria Provided
Conflicting Classifications

CA7238874

rs_61740289

7 SubmittersRCV000293076 RCV001041798 RCV001075352 RCV001277208

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

SNV
Germline

Chr14:67729233

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7238798

rs_750636662

11 SubmittersRCV000993746 RCV001243727 RCV001833459 RCV001753776 RCV003324525

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

SNV
Germline

Chr14:67725194

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Leber congenital amaurosis 13
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA7238660

rs_552516182

4 SubmittersRCV001109345 RCV001850657 RCV003888726

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

SNV
Germline

Chr14:67729194

Conflicting classifications of pathogenicity

Leber congenital amaurosis 13
Retinitis pigmentosa
Leber congenital amaurosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7238787

rs_769317754

4 SubmittersRCV000955105 RCV001111665 RCV001275436 RCV002520913

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
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA390148606

rs_1349849938

8 SubmittersRCV000578516 RCV001058196 RCV004817774 RCV006640758

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_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

CA7238739

rs_116733939

14 SubmittersRCV000754982 RCV000993755 RCV001584547 RCV004817913

NM_152443.3(RDH12):c.506G>A (p.Arg169Gln)

SNV
Germline

Chr14:67727038

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA262809235

rs_971610277

9 SubmittersRCV000761341 RCV001530599 RCV006642578 RCV001073859

NM_152443.3(RDH12):c.226G>T (p.Gly76Trp)

SNV
Germline

Chr14:67725137

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA262808724

rs_368489658

6 SubmittersRCV000787671 RCV001377219 RCV001830679 RCV004818012 RCV005256681

NM_152443.3(RDH12):c.610A>C (p.Lys204Gln)

SNV
Unknown

Chr14:67727142

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA390151482

rs_1594866237

1 SubmittersRCV000787673

NM_152443.3(RDH12):c.697G>T (p.Val233Phe)

SNV
Germline

Chr14:67729229

Likely pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

CA390152928

rs_140257538

2 SubmittersRCV000787675

NM_152443.3(RDH12):c.481C>T (p.Arg161Trp)

SNV
Germline

Chr14:67727013

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA7238728

rs_759408031

8 SubmittersRCV000797267 RCV001277204 RCV002267742 RCV003889988

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

SNV
Germline

Chr14:67727141

Conflicting classifications of pathogenicity

Leber congenital amaurosis 13
Leber congenital amaurosis
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA7238759

rs_753959716

6 SubmittersRCV000821787 RCV001830813 RCV004794462

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

SNV
Germline

Chr14:67733780

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA7238876

rs_200387832

11 SubmittersRCV000811812 RCV001171676 RCV000993757 RCV001074674 RCV006642653

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

SNV
Germline

Chr14:67729338

Conflicting classifications of pathogenicity

Leber congenital amaurosis 13
Retinal dystrophy
Leber congenital amaurosis
Macular dystrophy with or without cone dysfunction

Criteria Provided
Conflicting Classifications

CA7238822

rs_116802390

8 SubmittersRCV000945760 RCV001073956 RCV003230606 RCV005235499

NM_152443.3(RDH12):c.138C>T (p.Gly46=)

SNV
Germline

Chr14:67724542

Conflicting classifications of pathogenicity

Leber congenital amaurosis 13
Retinitis Pigmentosa, Recessive

Criteria Provided
Conflicting Classifications

CA7238609

rs_140371232

2 SubmittersRCV000884795 RCV001114991

NM_152443.3(RDH12):c.125T>C (p.Val42Ala)

SNV
Unknown

Chr14:67724529

Likely pathogenic

Leber congenital amaurosis 13

Criteria Provided
Single Submitter

CA390147909

rs_1594865036

1 SubmittersRCV000989237

NM_152443.3(RDH12):c.178G>C (p.Ala60Pro)

SNV
Germline

Chr14:67724582

Likely pathogenic

Leber congenital amaurosis 13

Criteria Provided
Multiple Submitters
No Conflicts

CA390148335

rs_749038454

2 SubmittersRCV000989238

NM_152443.3(RDH12):c.325G>C (p.Ala109Pro)

SNV
Germline

Chr14:67725236

Conflicting classifications of pathogenicity

Leber congenital amaurosis 13

Criteria Provided
Conflicting Classifications

CA390148856

rs_1594865434

2 SubmittersRCV000989239

NM_152443.3(RDH12):c.164C>T (p.Thr55Met)

SNV
Germline

Chr14:67724568

Pathogenic/Likely pathogenic

Leber congenital amaurosis 13
Leber congenital amaurosis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA7238616

rs_766631462

11 SubmittersRCV000993753 RCV001003153 RCV001091052

NM_152443.3(RDH12):c.440A>C (p.Asn147Thr)

SNV
Germline

Chr14:67726147

Conflicting classifications of pathogenicity

Macular dystrophy
Retinal dystrophy
Leber congenital amaurosis 13

Criteria Provided
Conflicting Classifications

CA390150338

rs_1566847499

3 SubmittersRCV000993750 RCV001075448 RCV005012423

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

SNV
Germline

Chr14:67727151

Pathogenic/Likely pathogenic

Macular dystrophy
Leber congenital amaurosis 13
RDH12-related disorder
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA7238762

rs_745871149

6 SubmittersRCV000993749 RCV001255717 RCV004735926 RCV006642698

NM_152443.3(RDH12):c.697G>A (p.Val233Ile)

SNV
Germline

Chr14:67729229

Likely pathogenic

Macular dystrophy
Leber congenital amaurosis 13

Criteria Provided
Multiple Submitters
No Conflicts

CA390152927

rs_140257538

3 SubmittersRCV000993751 RCV005012424

NM_152443.3(RDH12):c.821T>C (p.Leu274Pro)

SNV
Germline

Chr14:67729353

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Condition: not provided
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA390153397

rs_1594867597

3 SubmittersRCV001003158 RCV001597241 RCV006642713

NM_152443.3(RDH12):c.599A>C (p.Tyr200Ser)

SNV
Germline

Chr14:67727131

Pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

CA390151427

rs_1163040913

1 SubmittersRCV001199532

NM_152443.3(RDH12):c.149G>A (p.Gly50Asp)

SNV
Germline

Chr14:67724553

Likely pathogenic

Leber congenital amaurosis 13

No Assertion Criteria Provided

CA390148112

rs_1594865064

1 SubmittersRCV001029918

NM_152443.3(RDH12):c.139G>A (p.Ala47Thr)

SNV
Germline

Chr14:67724543

Pathogenic/Likely pathogenic

Leber congenital amaurosis 13
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA7238610

rs_761231974

7 SubmittersRCV001057696 RCV001420746

NM_152443.3(RDH12):c.316C>T (p.Arg106Ter)

SNV
Germline

Chr14:67725227

Pathogenic

Leber congenital amaurosis 13
Condition: not provided
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA7238666

rs_752242512

6 SubmittersRCV001036749 RCV001091053 RCV001827217

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

SNV
Germline

Chr14:67726144

Pathogenic

Leber congenital amaurosis 13
Leber congenital amaurosis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA262808941

rs_116649873

6 SubmittersRCV001043608 RCV001277203 RCV005432544

NM_152443.3(RDH12):c.912G>A (p.Trp304Ter)

SNV
Germline

Chr14:67733809

Likely pathogenic

Leber congenital amaurosis 13
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA390154237

rs_2038317129

3 SubmittersRCV001041857 RCV001277209

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

SNV
Germline

Chr14:67726156

Pathogenic

Leber congenital amaurosis 13
Ovarian serous cystadenocarcinoma
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA7238705

rs_781331005

4 SubmittersRCV001043928 RCV005912459 RCV006642767

NM_152443.3(RDH12):c.284G>A (p.Arg95Gln)

SNV
Germline

Chr14:67725195

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7238661

rs_765914942

5 SubmittersRCV001075651 RCV001243650 RCV002222667 RCV001833694 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
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA7238701

rs_747257567

6 SubmittersRCV001074758 RCV001225544 RCV002282454 RCV006636594

NM_152443.3(RDH12):c.505C>T (p.Arg169Trp)

SNV
Germline

Chr14:67727037

Pathogenic/Likely pathogenic

Retinal dystrophy
Leber congenital amaurosis 13
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA390150768

rs_761167763

5 SubmittersRCV001075351 RCV001212314 RCV003324554

NM_152443.3(RDH12):c.560A>G (p.Asp187Gly)

SNV
Germline

Chr14:67727092

Conflicting classifications of pathogenicity

Retinal dystrophy
Leber congenital amaurosis 13

Criteria Provided
Conflicting Classifications

CA390151126

rs_1262243990

2 SubmittersRCV001074473 RCV001304561

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

SNV
Germline

Chr14:67727131

Pathogenic/Likely pathogenic

Retinal dystrophy
Leber congenital amaurosis 13
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA390151429

rs_1163040913

3 SubmittersRCV001075659 RCV001255716 RCV005418990

NM_152443.3(RDH12):c.601T>C (p.Cys201Arg)

SNV
Germline

Chr14:67727133

Pathogenic/Likely pathogenic

Retinal dystrophy
Leber congenital amaurosis 13

Criteria Provided
Multiple Submitters
No Conflicts

CA390151439

rs_2038196341

2 SubmittersRCV001073785 RCV001387133

NM_152443.3(RDH12):c.671C>T (p.Thr224Ile)

SNV
Germline

Chr14:67729203

Conflicting classifications of pathogenicity

Retinal dystrophy
Leber congenital amaurosis 13
not specified

Criteria Provided
Conflicting Classifications

CA7238791

rs_200302290

4 SubmittersRCV001075534 RCV001862618 RCV004702631

NM_152443.3(RDH12):c.697G>C (p.Val233Leu)

SNV
Germline

Chr14:67729229

Pathogenic/Likely pathogenic

Retinal dystrophy
Leber congenital amaurosis 13
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA7238794

rs_140257538

7 SubmittersRCV001075033 RCV001383004 RCV006636597

NM_152443.3(RDH12):c.715C>T (p.Arg239Trp)

SNV
Germline

Chr14:67729247

Pathogenic/Likely pathogenic

Retinal dystrophy
Leber congenital amaurosis 13

Criteria Provided
Multiple Submitters
No Conflicts

CA7238802

rs_751589863

3 SubmittersRCV001073667 RCV002557895

NM_152443.3(RDH12):c.377C>A (p.Ala126Glu)

SNV
Germline

Chr14:67726084

Pathogenic/Likely pathogenic

Leber congenital amaurosis 13

Criteria Provided
Multiple Submitters
No Conflicts

CA390150075

rs_202126574

3 SubmittersRCV001198281

NM_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

CA390150191

rs_1206574200

4 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

CA390150965

rs_2038195054

1 SubmittersRCV001204102

NM_152443.3(RDH12):c.582C>G (p.Tyr194Ter)

SNV
Germline

Chr14:67727114

Pathogenic

Leber congenital amaurosis 13
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA7238756

rs_753074829

3 SubmittersRCV001202459 RCV001833781

NM_152443.3(RDH12):c.38C>A (p.Ser13Ter)

SNV
Germline

Chr14:67722680

Pathogenic

Leber congenital amaurosis 13
Lung cancer

No Assertion Criteria Provided

CA262808042

rs_912107188

2 SubmittersRCV001255720 RCV005909232

NM_152443.3(RDH12):c.238G>C (p.Ala80Pro)

SNV
Germline

Chr14:67725149

Likely pathogenic

Leber congenital amaurosis 13

No Assertion Criteria Provided

CA262808732

rs_1032626668

1 SubmittersRCV001255721

NM_152443.3(RDH12):c.716G>A (p.Arg239Gln)

SNV
Germline

Chr14:67729248

Likely pathogenic

Leber congenital amaurosis 13

Criteria Provided
Multiple Submitters
No Conflicts

CA390152961

rs_1239043055

3 SubmittersRCV001255719

NM_152443.3(RDH12):c.805G>C (p.Ala269Pro)

SNV
Germline

Chr14:67729337

Likely pathogenic

Leber congenital amaurosis 13

No Assertion Criteria Provided

CA390153286

rs_767385752

1 SubmittersRCV001255723

NM_152443.3(RDH12):c.932T>C (p.Leu311Pro)

SNV
Germline

Chr14:67733829

Likely pathogenic

Leber congenital amaurosis 13

No Assertion Criteria Provided

CA7238882

rs_769546135

1 SubmittersRCV001255724

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

SNV
Germline

Chr14:67726156

Pathogenic

Leber congenital amaurosis 13
Leber congenital amaurosis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA390150389

rs_781331005

5 SubmittersRCV001255715 RCV006636765 RCV006698364

NM_152443.3(RDH12):c.659-2A>T

SNV
Germline

Chr14:67729189

Likely pathogenic

Leber congenital amaurosis 13

Criteria Provided
Multiple Submitters
No Conflicts

CA390152852

rs_2038231425

4 SubmittersRCV001255718

NM_152443.3(RDH12):c.226G>A (p.Gly76Arg)

SNV
Germline

Chr14:67725137

Pathogenic

Condition: not provided
Leber congenital amaurosis 13
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA7238647

rs_368489658

5 SubmittersRCV001268128 RCV001387781 RCV005236749

NM_152443.3(RDH12):c.146C>A (p.Thr49Lys)

SNV
Germline

Chr14:67724550

Pathogenic/Likely pathogenic

Leber congenital amaurosis 13
Cone-rod dystrophy
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA7238613

rs_28940314

5 SubmittersRCV001340739 RCV006270499 RCV006636820

NM_152443.3(RDH12):c.193C>T (p.Arg65Ter)

SNV
Germline

Chr14:67725104

Pathogenic/Likely pathogenic

Leber congenital amaurosis 13
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA7238643

rs_778571042

4 SubmittersRCV001376377 RCV005057345

NM_152443.3(RDH12):c.188-1G>A

SNV
Germline

Chr14:67725098

Likely pathogenic

Leber congenital amaurosis 13
Leber congenital amaurosis

Criteria Provided
Single Submitter

CA390148467

rs_2140142183

2 SubmittersRCV001377548 RCV001831344

NM_152443.3(RDH12):c.278T>C (p.Leu93Pro)

SNV
Germline

Chr14:67725189

Pathogenic/Likely pathogenic

Leber congenital amaurosis 13
Leber congenital amaurosis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA7238658

rs_527800020

9 SubmittersRCV001378468 RCV001836387 RCV006698381

NM_152443.3(RDH12):c.226G>C (p.Gly76Arg)

SNV
Germline

Chr14:67725137

Pathogenic/Likely pathogenic

Leber congenital amaurosis 13
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA262808726

rs_368489658

6 SubmittersRCV001387782 RCV001831398

NM_152443.3(RDH12):c.393T>A (p.Cys131Ter)

SNV
Germline

Chr14:67726100

Pathogenic

Leber congenital amaurosis 13

Criteria Provided
Single Submitter

CA7238696

rs_755621140

1 SubmittersRCV001384303

NM_152443.3(RDH12):c.524C>A (p.Ser175Ter)

SNV
Germline

Chr14:67727056

Pathogenic

Leber congenital amaurosis 13

Criteria Provided
Single Submitter

CA390150899

rs_116733939

1 SubmittersRCV001390024

NM_152443.3(RDH12):c.823G>T (p.Glu275Ter)

SNV
Germline

Chr14:67729355

Pathogenic

Leber congenital amaurosis 13

Criteria Provided
Single Submitter

CA7238823

rs_755909719

1 SubmittersRCV001385535

NM_152443.3(RDH12):c.148G>A (p.Gly50Ser)

SNV
Germline

Chr14:67724552

Likely pathogenic

Leber congenital amaurosis 13
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA390148105

rs_2140141345

3 SubmittersRCV001866151 RCV001591830

NM_152443.3(RDH12):c.616G>A (p.Ala206Thr)

SNV
Germline

Chr14:67727148

Pathogenic/Likely pathogenic

Macular dystrophy
Leber congenital amaurosis 13

Criteria Provided
Single Submitter

CA390151512

rs_2140145599

1 SubmittersRCV001591831 RCV003389498

NM_152443.3(RDH12):c.667G>T (p.Val223Phe)

SNV
Germline

Chr14:67729199

Conflicting classifications of pathogenicity

Leber congenital amaurosis
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA7238790

rs_370015375

2 SubmittersRCV003399392 RCV001591833

NM_152443.3(RDH12):c.607A>G (p.Ser203Gly)

SNV
Germline

Chr14:67727139

Likely pathogenic

Stargardt disease

Criteria Provided
Single Submitter

CA390151468

rs_2140145566

1 SubmittersRCV001591834

NM_152443.3(RDH12):c.698T>A (p.Val233Asp)

SNV
Germline

Chr14:67729230

Pathogenic

Leber congenital amaurosis

Criteria Provided
Single Submitter

CA7238795

rs_144148976

1 SubmittersRCV001733411

NM_152443.3(RDH12):c.449-1G>A

SNV
Germline

Chr14:67726980

Likely pathogenic

Leber congenital amaurosis 13

Criteria Provided
Single Submitter

CA390150474

rs_2140145142

1 SubmittersRCV001783675

NM_152443.3(RDH12):c.659-2A>C

SNV
Germline

Chr14:67729189

Likely pathogenic

Leber congenital amaurosis 13

Criteria Provided
Single Submitter

CA390152853

rs_2038231425

1 SubmittersRCV002038789

NM_152443.3(RDH12):c.68+1G>A

SNV
Germline

Chr14:67722711

Pathogenic

Leber congenital amaurosis
Leber congenital amaurosis 13

Criteria Provided
Multiple Submitters
No Conflicts

CA390146502

rs_2140138146

3 SubmittersRCV003331233 RCV001964550

NM_152443.3(RDH12):c.69-1G>A

SNV
Germline

Chr14:67724472

Likely pathogenic

Leber congenital amaurosis 13

Criteria Provided
Single Submitter

CA262808522

rs_373279009

1 SubmittersRCV002017204

NM_152443.3(RDH12):c.133A>G (p.Thr45Ala)

SNV
Germline

Chr14:67724537

Pathogenic/Likely pathogenic

Leber congenital amaurosis 13
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA390147970

rs_1225487694

4 SubmittersRCV002023609 RCV006640863

NM_152443.3(RDH12):c.505C>G (p.Arg169Gly)

SNV
Germline

Chr14:67727037

Pathogenic/Likely pathogenic

Leber congenital amaurosis 13
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA7238734

rs_761167763

5 SubmittersRCV002023658 RCV006640864

NM_152443.3(RDH12):c.866G>A (p.Trp289Ter)

SNV
Germline

Chr14:67733763

Conflicting classifications of pathogenicity

Leber congenital amaurosis 13
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA390154006

rs_2140162488

2 SubmittersRCV002037755 RCV005419285

NM_152443.3(RDH12):c.449-2A>G

SNV
Germline

Chr14:67726979

Likely pathogenic

Leber congenital amaurosis 13

Criteria Provided
Single Submitter

CA390150469

rs_2140145138

1 SubmittersRCV002046829

NM_152443.3(RDH12):c.559G>A (p.Asp187Asn)

SNV
Germline

Chr14:67727091

Conflicting classifications of pathogenicity

Inborn genetic diseases
Leber congenital amaurosis 13

Criteria Provided
Conflicting Classifications

CA7238748

rs_115356583

2 SubmittersRCV002644352 RCV002644351

NM_152443.3(RDH12):c.659-1G>A

SNV
Germline

Chr14:67729190

Likely pathogenic

Leber congenital amaurosis 13

Criteria Provided
Single Submitter

CA390152854

rs_2503831353

1 SubmittersRCV002853359

NM_152443.3(RDH12):c.643G>C (p.Ala215Pro)

SNV
Germline

Chr14:67727175

Conflicting classifications of pathogenicity

Leber congenital amaurosis 13
Leber congenital amaurosis

Criteria Provided
Conflicting Classifications

CA390151621

rs_2503813041

2 SubmittersRCV003025613 RCV005608829

NM_152443.3(RDH12):c.848+1G>C

SNV
Germline

Chr14:67729381

Pathogenic

Leber congenital amaurosis 13

Criteria Provided
Single Submitter

CA390153550

rs_745369888

1 SubmittersRCV003056244

NM_152443.3(RDH12):c.164C>A (p.Thr55Lys)

SNV
Unknown

Chr14:67724568

Likely pathogenic

Leber congenital amaurosis 13

Criteria Provided
Single Submitter

CA390148228

rs_766631462

1 SubmittersRCV003471818

NM_152443.3(RDH12):c.178G>A (p.Ala60Thr)

SNV
Germline

Chr14:67724582

Pathogenic/Likely pathogenic

Leber congenital amaurosis 13
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA7238623

rs_749038454

2 SubmittersRCV003463492 RCV006642952

NM_152443.3(RDH12):c.617C>T (p.Ala206Val)

SNV
Germline

Chr14:67727149

Pathogenic/Likely pathogenic

Leber congenital amaurosis 13
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA390151518

rs_1254096311

3 SubmittersRCV003463494 RCV005407164

NM_152443.3(RDH12):c.188-2A>G

SNV
Germline

Chr14:67725097

Likely pathogenic

Leber congenital amaurosis 13

Criteria Provided
Multiple Submitters
No Conflicts

CA390148456

rs_1228568835

2 SubmittersRCV003471821

NM_152443.3(RDH12):c.187+1G>C

SNV
Unknown

Chr14:67724592

Likely pathogenic

Leber congenital amaurosis 13

Criteria Provided
Single Submitter

CA390148380

rs_201102789

1 SubmittersRCV003463497

NM_152443.3(RDH12):c.617C>A (p.Ala206Asp)

SNV
Germline

Chr14:67727149

Likely pathogenic

Leber congenital amaurosis 13
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA390151514

rs_1254096311

3 SubmittersRCV003463499 RCV004701069

NM_152443.3(RDH12):c.229G>T (p.Glu77Ter)

SNV
Germline

Chr14:67725140

Pathogenic/Likely pathogenic

Leber congenital amaurosis 13
Condition: not provided
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA390148563

rs_2038170208

4 SubmittersRCV003499983 RCV004701736 RCV006643080

NM_152443.3(RDH12):c.843C>G (p.Tyr281Ter)

SNV
Germline

Chr14:67729375

Pathogenic

Leber congenital amaurosis 13

Criteria Provided
Single Submitter

CA390153513

rs_1344063890

1 SubmittersRCV003604294

NM_152443.3(RDH12):c.343+1G>A

SNV
Germline

Chr14:67725255

Pathogenic

Leber congenital amaurosis 13

Criteria Provided
Single Submitter

CA390148965

rs_2503799127

1 SubmittersRCV003603835

NM_152443.3(RDH12):c.137G>A (p.Gly46Asp)

SNV
Germline

Chr14:67724541

Likely pathogenic

Leber congenital amaurosis 13

No Assertion Criteria Provided

1 SubmittersRCV004691625

NM_152443.3(RDH12):c.106C>T (p.Gln36Ter)

SNV
Germline

Chr14:67724510

Pathogenic

Leber congenital amaurosis 13

Criteria Provided
Single Submitter

CA390147773

rs_867494661

1 SubmittersRCV003839591

NM_152443.3(RDH12):c.867G>A (p.Trp289Ter)

SNV
Germline

Chr14:67733764

Likely pathogenic

Leber congenital amaurosis 13
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

rs_757735668

2 SubmittersRCV004574718 RCV005610690

NM_152443.3(RDH12):c.144C>A (p.Asn48Lys)

SNV
Germline

Chr14:67724548

Likely pathogenic

Retinal dystrophy

No Assertion Criteria Provided

1 SubmittersRCV004817305

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_152443.3(RDH12):c.433G>A (p.Gly145Arg)

SNV
Germline

Chr14:67726140

Likely pathogenic

Retinal dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV004795271

NM_152443.3(RDH12):c.16G>T (p.Gly6Ter)

SNV
Germline

Chr14:67722658

Likely pathogenic

Leber congenital amaurosis 13

Criteria Provided
Single Submitter

1 SubmittersRCV005005674

NM_152443.3(RDH12):c.352C>T (p.Gln118Ter)

SNV
Germline

Chr14:67726059

Pathogenic

Leber congenital amaurosis 13

Criteria Provided
Single Submitter

1 SubmittersRCV005127800

NM_152443.3(RDH12):c.659-2A>G

SNV
Germline

Chr14:67729189

Pathogenic

Leber congenital amaurosis 13

Criteria Provided
Single Submitter

1 SubmittersRCV005253584

NM_152443.3(RDH12):c.434G>A (p.Gly145Glu)

SNV
Germline

Chr14:67726141

Likely pathogenic

Leber congenital amaurosis

Criteria Provided
Single Submitter

1 SubmittersRCV006457619

NM_152443.3(RDH12):c.69-1G>C

SNV
Germline

Chr14:67724472

Likely pathogenic

Leber congenital amaurosis 13

Criteria Provided
Single Submitter

1 SubmittersRCV006526536

NM_152443.3(RDH12):c.448+2T>A

SNV
Germline

Chr14:67726157

Pathogenic

Leber congenital amaurosis 13

Criteria Provided
Single Submitter

1 SubmittersRCV006535020

NM_152443.3(RDH12):c.271C>T (p.Gln91Ter)

SNV
Germline

Chr14:67725182

Likely pathogenic

Leber congenital amaurosis

Criteria Provided
Single Submitter

1 SubmittersRCV006641897

NM_152443.3(RDH12):c.849-1G>A

SNV
Germline

Chr14:67733745

Likely pathogenic

Leber congenital amaurosis

Criteria Provided
Single Submitter

1 SubmittersRCV006641899

NM_152443.3(RDH12):c.911G>A (p.Trp304Ter)

SNV
Germline

Chr14:67733808

Likely pathogenic

Leber congenital amaurosis

Criteria Provided
Single Submitter

1 SubmittersRCV006641900

NM_152443.3(RDH12):c.598T>C (p.Tyr200His)

SNV
Germline

Chr14:67727130

Likely pathogenic

Retinitis pigmentosa 40

No Assertion Criteria Provided

1 SubmittersRCV006708272