Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NC_012920.1(MT-TK):m.8313G>A	SNV Germline	ChrMT:8313	Likely pathogenic	Mitochondrial DNA depletion syndrome 1 Mitochondrial disease Primary mitochondrial disorders	Reviewed By Expert Panel	CA254837	rs_118192101	3 SubmittersRCV000010200 RCV003162233 RCV006555293
NM_002693.3(POLG):c.752C>T (p.Thr251Ile)	SNV Germline	Chr15:89330184	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 4b Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Mitochondrial DNA depletion syndrome 1 Progressive sclerosing poliodystrophy Condition: not provided not specified POLG-related disorder Global developmental delay Mitochondrial DNA depletion syndrome 4b Progressive sclerosing poliodystrophy Tip-toe gait Abnormality of the nervous system Inborn genetic diseases Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Mitochondrial disease Hypertrophic cardiomyopathy Hereditary spastic paraplegia Mitochondrial DNA depletion syndrome 4b Progressive sclerosing poliodystrophy Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 See cases Mitochondrial DNA depletion syndrome Mitochondrial DNA depletion syndrome 4b Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Progressive sclerosing poliodystrophy Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 6 conditions	Criteria Provided Conflicting Classifications	CA123142	rs_113994094	51 SubmittersRCV000014448 RCV000014447 RCV000020484 RCV000184009 RCV000188641 RCV000194055 RCV000262479 RCV000415105 RCV001004407 RCV001678594 RCV001813985 RCV002313708 RCV001642225 RCV002272019 RCV002319423 RCV001847602 RCV003458331 RCV004584325 RCV005406744 RCV005007846 RCV005357125
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu)	SNV Germline	Chr15:89325639	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 4b Mitochondrial DNA depletion syndrome 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 not specified Progressive sclerosing poliodystrophy Condition: not provided Mitochondrial disease Global developmental delay Mitochondrial DNA depletion syndrome 4b Progressive sclerosing poliodystrophy Tip-toe gait Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Abnormality of the nervous system Inborn genetic diseases Hereditary spastic paraplegia Hypertrophic cardiomyopathy Mitochondrial DNA depletion syndrome 4b Progressive sclerosing poliodystrophy Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 See cases 6 conditions POLG-related disorder	Criteria Provided Conflicting Classifications	CA123146	rs_113994096	52 SubmittersRCV000014456 RCV000020473 RCV000186576 RCV000193529 RCV000408293 RCV000427845 RCV000508752 RCV000415307 RCV001004602 RCV001610290 RCV001642226 RCV001813986 RCV002313709 RCV001847603 RCV002319424 RCV003458332 RCV004584326 RCV005357126 RCV006439572
NM_002437.5(MPV17):c.148C>T (p.Arg50Trp)	SNV Germline	Chr2:27313032	Pathogenic	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) Condition: not provided Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) Charcot-Marie-Tooth disease, axonal, type 2EE Charcot-Marie-Tooth disease, axonal, type 2EE Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) Mitochondrial DNA depletion syndrome	Criteria Provided Multiple Submitters No Conflicts	CA341382	rs_121909723	10 SubmittersRCV000017545 RCV000264441 RCV003227464 RCV003473105 RCV005025062 RCV006451898
NM_001122659.3(EDNRB):c.914G>A (p.Ser305Asn)	SNV Germline	Chr13:77901095	Conflicting classifications of pathogenicity	Hirschsprung disease, susceptibility to, 2 not specified Waardenburg syndrome type 2A Waardenburg syndrome type 4A Condition: not provided Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant ABCD syndrome Hirschsprung disease, susceptibility to, 2 Waardenburg syndrome type 4A	Criteria Provided Conflicting Classifications	CA257563	rs_5352	13 SubmittersRCV000018118 RCV000222856 RCV000626404 RCV000659497 RCV000954472 RCV001258252 RCV005394165
NM_001953.5(TYMP):c.866A>C (p.Glu289Ala)	SNV Germline	Chr22:50526638	Pathogenic	Mitochondrial DNA depletion syndrome 1 Condition: not provided Mitochondrial neurogastrointestinal encephalomyopathy	Criteria Provided Multiple Submitters No Conflicts	CA126758	rs_121913036	10 SubmittersRCV000018133 RCV000498727 RCV001276276
NM_001953.5(TYMP):c.516+2T>C	SNV Germline	Chr22:50528510	Pathogenic	Mitochondrial DNA depletion syndrome 1	No Assertion Criteria Provided	CA212978	rs_797044454	2 SubmittersRCV000018134
NM_001953.5(TYMP):c.433G>A (p.Gly145Arg)	SNV Germline	Chr22:50528595	Pathogenic/Likely pathogenic	Mitochondrial DNA depletion syndrome 1 Condition: not provided Mitochondrial neurogastrointestinal encephalomyopathy	Criteria Provided Multiple Submitters No Conflicts	CA126763	rs_121913037	10 SubmittersRCV000018135 RCV001049989 RCV001276278
NM_001953.5(TYMP):c.665A>G (p.Lys222Arg)	SNV Germline	Chr22:50527265	Likely pathogenic	Mitochondrial DNA depletion syndrome 1 Condition: not provided Mitochondrial neurogastrointestinal encephalomyopathy	Criteria Provided Multiple Submitters No Conflicts	CA126768	rs_149977726	6 SubmittersRCV000018136 RCV000497545 RCV001831582
NM_001953.5(TYMP):c.1160-1G>C	SNV Germline	Chr22:50526142	Likely pathogenic	Mitochondrial DNA depletion syndrome 1 Condition: not provided	Criteria Provided Single Submitter	CA212981	rs_797044455	3 SubmittersRCV000018138 RCV006605190
NM_001953.5(TYMP):c.457G>A (p.Gly153Ser)	SNV Germline	Chr22:50528571	Pathogenic	Mitochondrial DNA depletion syndrome 1 Condition: not provided Mitochondrial neurogastrointestinal encephalomyopathy	Criteria Provided Multiple Submitters No Conflicts	CA126774	rs_121913038	7 SubmittersRCV000018140 RCV001052862 RCV001826476
NM_001953.5(TYMP):c.131G>A (p.Arg44Gln)	SNV Germline	Chr22:50529579	Pathogenic	Mitochondrial DNA depletion syndrome 1 Condition: not provided	Criteria Provided Single Submitter	CA126779	rs_28931613	3 SubmittersRCV000018141 RCV002513094
NM_001953.5(TYMP):c.215-1G>C	SNV Germline	Chr22:50529339	Pathogenic	Mitochondrial DNA depletion syndrome 1 Condition: not provided Mitochondrial neurogastrointestinal encephalomyopathy	Criteria Provided Multiple Submitters No Conflicts	CA212989	rs_767245071	8 SubmittersRCV000018142 RCV000599020 RCV001276279
NM_001953.5(TYMP):c.622G>A (p.Val208Met)	SNV Germline	Chr22:50527612	Pathogenic/Likely pathogenic	Mitochondrial DNA depletion syndrome 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA126784	rs_121913039	13 SubmittersRCV000018143 RCV000199543
NM_001953.5(TYMP):c.931G>C (p.Gly311Arg)	SNV Germline	Chr22:50526474	Pathogenic	Mitochondrial DNA depletion syndrome 1	No Assertion Criteria Provided	CA126791	rs_121913040	2 SubmittersRCV000018144
NM_001953.5(TYMP):c.605G>C (p.Arg202Thr)	SNV Germline	Chr22:50527629	Likely pathogenic	Mitochondrial DNA depletion syndrome 1 Condition: not provided	Criteria Provided Single Submitter	CA126797	rs_121913041	3 SubmittersRCV000018145 RCV003228895
NM_001953.5(TYMP):c.854T>C (p.Leu285Pro)	SNV Germline	Chr22:50526650	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 1 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA126803	rs_121913042	5 SubmittersRCV000018146 RCV003556042 RCV006456619
NM_001151.4(SLC25A4):c.368C>A (p.Ala123Asp)	SNV Germline	Chr4:185145020	Pathogenic/Likely pathogenic	Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive Condition: not provided Inborn mitochondrial myopathy Hypertrophic cardiomyopathy Mitochondrial respiratory chain defects Abnormality of mitochondrial metabolism Myopia Progressive sensorineural hearing impairment Vertigo Left ventricular hypertrophy Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2	Criteria Provided Multiple Submitters No Conflicts	CA127988	rs_121912683	6 SubmittersRCV000019911 RCV000414338 RCV000626769 RCV000626767 RCV000626768 RCV001198599
NM_002437.5(MPV17):c.206G>A (p.Trp69Ter)	SNV Germline	Chr2:27312753	Pathogenic/Likely pathogenic	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) MPV17-related mitochondrial DNA maintenance defect Condition: not provided Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) Charcot-Marie-Tooth disease, axonal, type 2EE	Criteria Provided Multiple Submitters No Conflicts	CA342971	rs_267607261	5 SubmittersRCV000031904 RCV000735226 RCV001385322 RCV003227465 RCV003460535
NM_052865.4(MGME1):c.456G>A (p.Trp152Ter)	SNV Germline	Chr20:17970315	Pathogenic/Likely pathogenic	Mitochondrial DNA depletion syndrome 11	Criteria Provided Multiple Submitters No Conflicts	CA214404	rs_587776943	3 SubmittersRCV000033150
NM_052865.4(MGME1):c.698A>G (p.Tyr233Cys)	SNV Germline	Chr20:17975870	Pathogenic	Mitochondrial DNA depletion syndrome 11	No Assertion Criteria Provided	CA214407	rs_587776944	1 SubmittersRCV000033151
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met)	SNV Germline	Chr3:193643378	Conflicting classifications of pathogenicity	Autosomal dominant optic atrophy classic form Condition: not provided Abortive cerebellar ataxia Optic nerve hypoplasia Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy Autosomal dominant optic atrophy classic form Abortive cerebellar ataxia Inborn genetic diseases OPA1-related disorder not specified Optic atrophy Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy Autosomal dominant optic atrophy classic form Abortive cerebellar ataxia Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)	Criteria Provided Conflicting Classifications	CA143824	rs_143319805	21 SubmittersRCV000043607 RCV000081747 RCV000210748 RCV000677258 RCV001249638 RCV001267306 RCV004537182 RCV003993775 RCV004814984 RCV005394267
NM_001151.4(SLC25A4):c.111+1G>A	SNV Germline	Chr4:185143484	Pathogenic	Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive	No Assertion Criteria Provided	CA144815	rs_398122942	1 SubmittersRCV000056253
NM_001278716.2(FBXL4):c.1555C>T (p.Gln519Ter)	SNV Germline	Chr6:98875562	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA144883	rs_398123059	5 SubmittersRCV000056327 RCV001090674
NM_001278716.2(FBXL4):c.1303C>T (p.Arg435Ter)	SNV Germline	Chr6:98899282	Pathogenic	Mitochondrial DNA depletion syndrome 13 Mitochondrial DNA depletion syndrome Inborn genetic diseases Condition: not provided Leigh syndrome	Criteria Provided Multiple Submitters No Conflicts	CA144886	rs_201889294	12 SubmittersRCV000056328 RCV000604628 RCV000622490 RCV001837446 RCV005237491
NM_001278716.2(FBXL4):c.1703G>C (p.Gly568Ala)	SNV Germline	Chr6:98874441	Pathogenic/Likely pathogenic	Mitochondrial DNA depletion syndrome 13 Developmental and epileptic encephalopathy, 85, with or without midline brain defects	Criteria Provided Multiple Submitters No Conflicts	CA144889	rs_398123060	5 SubmittersRCV000056329 RCV005861040
NM_001278716.2(FBXL4):c.1444C>T (p.Arg482Trp)	SNV Germline	Chr6:98875673	Pathogenic/Likely pathogenic	Mitochondrial DNA depletion syndrome 13 Mitochondrial encephalomyopathy Global developmental delay Condition: not provided Leigh syndrome Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA144891	rs_398123061	13 SubmittersRCV000056330 RCV000162170 RCV000224233 RCV003155062 RCV003242974
NM_001278716.2(FBXL4):c.1694A>G (p.Asp565Gly)	SNV Germline	Chr6:98875423	Likely pathogenic	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA144893	rs_398123062	3 SubmittersRCV000056331 RCV005089466
NM_130837.3(OPA1):c.1148A>G (p.Lys383Arg)	SNV Germline	Chr3:193638064	Pathogenic	Condition: not provided Autosomal dominant optic atrophy classic form Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)	Criteria Provided Multiple Submitters No Conflicts	CA285745	rs_398124303	9 SubmittersRCV000081775 RCV000180653 RCV004786358 RCV004783739
NM_001953.5(TYMP):c.242G>A (p.Arg81Gln)	SNV Germline	Chr22:50529311	Conflicting classifications of pathogenicity	not specified Condition: not provided Mitochondrial DNA depletion syndrome 1 TYMP-related disorder	Criteria Provided Conflicting Classifications	CA291564	rs_143789597	7 SubmittersRCV000126198 RCV000513951 RCV001145864 RCV003925249
NM_001953.5(TYMP):c.*3C>T	SNV Germline	Chr22:50525767	Conflicting classifications of pathogenicity	not specified Mitochondrial DNA depletion syndrome 1	Criteria Provided Conflicting Classifications	CA291601	rs_372620403	2 SubmittersRCV000126207 RCV001145762
NM_130837.3(OPA1):c.33-8T>C	SNV Germline	Chr3:193614715	Conflicting classifications of pathogenicity	Condition: not provided not specified OPA1-related disorder Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)	Criteria Provided Conflicting Classifications	CA241678	rs_370303596	5 SubmittersRCV000175870 RCV003993856 RCV004537390 RCV004786490
NM_130837.3(OPA1):c.2734C>T (p.Arg912Ter)	SNV Germline	Chr3:193664952	Pathogenic	Condition: not provided Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy Autosomal dominant optic atrophy classic form Abortive cerebellar ataxia Glaucoma, normal tension, susceptibility to Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) Abortive cerebellar ataxia	Criteria Provided Multiple Submitters No Conflicts	CA275129	rs_794727405	7 SubmittersRCV000199431 RCV005025281 RCV005868019
NM_002693.3(POLG):c.3098C>T (p.Ala1033Val)	SNV Germline	Chr15:89319234	Conflicting classifications of pathogenicity	Progressive sclerosing poliodystrophy Condition: not provided 6 conditions POLG-related disorder Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Malignant lymphoma, large B-cell, diffuse Inborn genetic diseases Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Mitochondrial DNA depletion syndrome 1 Mitochondrial DNA depletion syndrome 4b Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Cervical cancer	Criteria Provided Conflicting Classifications	CA316596	rs_551708243	14 SubmittersRCV000551001 RCV000710186 RCV000765239 RCV001121338 RCV001332169 RCV005892194 RCV004955314 RCV005361098 RCV005892193
NM_001278716.2(FBXL4):c.64C>T (p.Arg22Ter)	SNV Germline	Chr6:98926925	Pathogenic/Likely pathogenic	Mitochondrial DNA depletion syndrome 13 Condition: not provided Inborn genetic diseases Neurodevelopmental delay	Criteria Provided Multiple Submitters No Conflicts	CA250339	rs_200440128	14 SubmittersRCV000191084 RCV000578719 RCV001267292 RCV002273980
NM_007215.4(POLG2):c.703A>G (p.Thr235Ala)	SNV Germline	Chr17:64492759	Conflicting classifications of pathogenicity	Condition: not provided Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 Mitochondrial dna depletion syndrome 16B (neuroophthalmic type) Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 Mitochondrial DNA depletion syndrome 16 (hepatic type)	Criteria Provided Conflicting Classifications	CA322282	rs_148941150	5 SubmittersRCV000197824 RCV005230059 RCV005396594
NM_001953.5(TYMP):c.647-9C>G	SNV Germline	Chr22:50527292	Conflicting classifications of pathogenicity	Condition: not provided Mitochondrial DNA depletion syndrome 1 Mitochondrial neurogastrointestinal encephalomyopathy	Criteria Provided Conflicting Classifications	CA321575	rs_549324764	4 SubmittersRCV000197130 RCV001143969 RCV001828032
NM_001953.5(TYMP):c.646+8G>A	SNV Germline	Chr22:50527580	Conflicting classifications of pathogenicity	not specified Condition: not provided Mitochondrial DNA depletion syndrome 1	Criteria Provided Conflicting Classifications	CA322582	rs_200818286	4 SubmittersRCV000198097 RCV000909762 RCV001143970
NM_001953.5(TYMP):c.437G>A (p.Arg146His)	SNV Germline	Chr22:50528591	Conflicting classifications of pathogenicity	Condition: not provided Mitochondrial DNA depletion syndrome 1 Mitochondrial neurogastrointestinal encephalomyopathy	Criteria Provided Conflicting Classifications	CA323181	rs_188802138	6 SubmittersRCV000198648 RCV000666806 RCV001833157
NM_001953.5(TYMP):c.391C>A (p.Pro131Thr)	SNV Germline	Chr22:50529162	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA320183	rs_863224255	2 SubmittersRCV001260913 RCV002517272
NM_003201.3(TFAM):c.533C>T (p.Pro178Leu)	SNV Germline	Chr10:58390856	Likely pathogenic	Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)	Criteria Provided Single Submitter	CA5507988	rs_757075712	2 SubmittersRCV000256433
NM_001953.5(TYMP):c.647C>T (p.Ala216Val)	SNV Germline	Chr22:50527283	Likely pathogenic	Mitochondrial DNA depletion syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16616766	rs_1064792855	2 SubmittersRCV000208630
NM_001953.5(TYMP):c.112G>T (p.Glu38Ter)	SNV Germline	Chr22:50529598	Pathogenic	Mitochondrial DNA depletion syndrome 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16616769	rs_1054084896	4 SubmittersRCV000208680 RCV003556264
NM_001953.5(TYMP):c.128A>C (p.Lys43Thr)	SNV Germline	Chr22:50529582	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 1 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA10321878	rs_752137335	3 SubmittersRCV000208616 RCV002517410 RCV003235133
NM_001953.5(TYMP):c.146T>G (p.Leu49Arg)	SNV Germline	Chr22:50529564	Pathogenic	Mitochondrial DNA depletion syndrome 1	No Assertion Criteria Provided	CA16616770	rs_1064792857	1 SubmittersRCV000208699
NM_001953.5(TYMP):c.162C>G (p.Ile54Met)	SNV Germline	Chr22:50529548	Pathogenic	Mitochondrial DNA depletion syndrome 1	No Assertion Criteria Provided	CA16616771	rs_1064792858	1 SubmittersRCV000208614
NM_001953.5(TYMP):c.261G>C (p.Glu87Asp)	SNV Germline	Chr22:50529292	Pathogenic	Mitochondrial DNA depletion syndrome 1	No Assertion Criteria Provided	CA10321803	rs_749827433	1 SubmittersRCV000208698
NM_001953.5(TYMP):c.261G>T (p.Glu87Asp)	SNV Germline	Chr22:50529292	Pathogenic	Mitochondrial DNA depletion syndrome 1	No Assertion Criteria Provided	CA16616773	rs_749827433	1 SubmittersRCV000208640
NM_001953.5(TYMP):c.275C>A (p.Thr92Asn)	SNV Germline	Chr22:50529278	Pathogenic/Likely pathogenic	Mitochondrial DNA depletion syndrome 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16616774	rs_891107196	4 SubmittersRCV000208667 RCV001853324
NM_001953.5(TYMP):c.328C>T (p.Gln110Ter)	SNV Germline	Chr22:50529225	Pathogenic	Mitochondrial DNA depletion syndrome 1	No Assertion Criteria Provided	CA16616775	rs_1064792860	1 SubmittersRCV000208694
NM_001953.5(TYMP):c.340G>A (p.Asp114Asn)	SNV Germline	Chr22:50529213	Likely pathogenic	Mitochondrial DNA depletion syndrome 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16616776	rs_1064792861	4 SubmittersRCV000208638 RCV006272377
NM_001953.5(TYMP):c.398T>C (p.Leu133Pro)	SNV Germline	Chr22:50529155	Pathogenic	Mitochondrial DNA depletion syndrome 1	No Assertion Criteria Provided	CA16616777	rs_1064792862	1 SubmittersRCV000208677
NM_001953.5(TYMP):c.401C>A (p.Ala134Glu)	SNV Germline	Chr22:50529152	Pathogenic	Mitochondrial DNA depletion syndrome 1	No Assertion Criteria Provided	CA16616778	rs_199901350	1 SubmittersRCV000208707
NM_001953.5(TYMP):c.467A>G (p.Asp156Gly)	SNV Germline	Chr22:50528561	Pathogenic	Mitochondrial DNA depletion syndrome 1	No Assertion Criteria Provided	CA16616779	rs_1064792863	1 SubmittersRCV000208704
NM_001953.5(TYMP):c.478T>C (p.Ser160Pro)	SNV Germline	Chr22:50528550	Likely pathogenic	Mitochondrial DNA depletion syndrome 1	Criteria Provided Single Submitter	CA16616780	rs_1064792864	2 SubmittersRCV000208643
NM_001953.5(TYMP):c.518T>G (p.Met173Arg)	SNV Germline	Chr22:50527716	Likely pathogenic	Mitochondrial DNA depletion syndrome 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16616781	rs_1064792865	4 SubmittersRCV000208685 RCV004767153
NM_001953.5(TYMP):c.530T>C (p.Leu177Pro)	SNV Germline	Chr22:50527704	Pathogenic	Mitochondrial DNA depletion syndrome 1	No Assertion Criteria Provided	CA16616782	rs_1064792866	1 SubmittersRCV000208713
NM_001953.5(TYMP):c.605G>A (p.Arg202Lys)	SNV Germline	Chr22:50527629	Pathogenic	Mitochondrial DNA depletion syndrome 1	No Assertion Criteria Provided	CA10321689	rs_121913041	1 SubmittersRCV000208641
NM_001953.5(TYMP):c.623T>G (p.Val208Gly)	SNV Germline	Chr22:50527611	Pathogenic	Mitochondrial DNA depletion syndrome 1	No Assertion Criteria Provided	CA16616783	rs_1064792867	1 SubmittersRCV000208663
NM_001953.5(TYMP):c.707T>C (p.Phe236Ser)	SNV Germline	Chr22:50527223	Pathogenic	Mitochondrial DNA depletion syndrome 1	No Assertion Criteria Provided	CA16616784	rs_1064792868	1 SubmittersRCV000208618
NM_001953.5(TYMP):c.760A>C (p.Thr254Pro)	SNV Germline	Chr22:50527170	Pathogenic	Mitochondrial DNA depletion syndrome 1	No Assertion Criteria Provided	CA16616786	rs_1064792870	1 SubmittersRCV000208703
NM_001953.5(TYMP):c.856G>A (p.Glu286Lys)	SNV Germline	Chr22:50526648	Pathogenic	Mitochondrial DNA depletion syndrome 1	No Assertion Criteria Provided	CA16616788	rs_866001342	1 SubmittersRCV000208700
NM_001953.5(TYMP):c.865G>A (p.Glu289Lys)	SNV Germline	Chr22:50526639	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 1 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA16616789	rs_946234163	4 SubmittersRCV000208626 RCV003556265 RCV005418019
NM_001953.5(TYMP):c.893G>A (p.Gly298Asp)	SNV Germline	Chr22:50526611	Likely pathogenic	Mitochondrial DNA depletion syndrome 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16616790	rs_1064792872	4 SubmittersRCV000208710 RCV001853326
NM_001953.5(TYMP):c.931G>T (p.Gly311Cys)	SNV Germline	Chr22:50526474	Pathogenic	Mitochondrial DNA depletion syndrome 1	No Assertion Criteria Provided	CA16616791	rs_121913040	1 SubmittersRCV000208708
NM_001953.5(TYMP):c.938T>C (p.Leu313Pro)	SNV Germline	Chr22:50526467	Likely pathogenic	Mitochondrial DNA depletion syndrome 1	Criteria Provided Single Submitter	CA16616792	rs_892141220	2 SubmittersRCV000208646
NM_001953.5(TYMP):c.1067T>C (p.Leu356Pro)	SNV Germline	Chr22:50526338	Pathogenic	Mitochondrial DNA depletion syndrome 1	No Assertion Criteria Provided	CA16616793	rs_1060499532	1 SubmittersRCV000208689
NM_001953.5(TYMP):c.1159G>A (p.Gly387Ser)	SNV Germline	Chr22:50526246	Pathogenic	Mitochondrial DNA depletion syndrome 1	No Assertion Criteria Provided	CA16616795	rs_1060499534	1 SubmittersRCV000208644
NM_001953.5(TYMP):c.1160G>A (p.Gly387Asp)	SNV Germline	Chr22:50526141	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 1 not specified	Criteria Provided Conflicting Classifications	CA16616796	rs_1064792873	3 SubmittersRCV000208687 RCV003235134
NM_001953.5(TYMP):c.1282G>A (p.Gly428Ser)	SNV Germline	Chr22:50526019	Likely pathogenic	Mitochondrial DNA depletion syndrome 1 Condition: not provided	Criteria Provided Single Submitter	CA16616797	rs_1064792874	2 SubmittersRCV000208625 RCV002515560
NM_001953.5(TYMP):c.1360G>C (p.Ala454Pro)	SNV Germline	Chr22:50525859	Pathogenic	Mitochondrial DNA depletion syndrome 1	No Assertion Criteria Provided	CA16616799	rs_764275775	1 SubmittersRCV000208684
NM_001953.5(TYMP):c.1412C>A (p.Ser471Ter)	SNV Germline	Chr22:50525807	Pathogenic	Mitochondrial DNA depletion syndrome 1	No Assertion Criteria Provided	CA10321405	rs_11479	1 SubmittersRCV000208621
NM_001953.5(TYMP):c.928+1G>A	SNV Germline	Chr22:50526575	Pathogenic/Likely pathogenic	Mitochondrial DNA depletion syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16616800	rs_1064792876	3 SubmittersRCV000208662
NM_001953.5(TYMP):c.1160-1G>A	SNV Germline	Chr22:50526142	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 1 Mitochondrial neurogastrointestinal encephalomyopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA16616801	rs_797044455	10 SubmittersRCV000208629 RCV000606736 RCV001255087
NM_001953.5(TYMP):c.1159+2T>A	SNV Germline	Chr22:50526244	Pathogenic	Mitochondrial DNA depletion syndrome 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA10321473	rs_770277446	4 SubmittersRCV000208672 RCV000794156
NM_001953.5(TYMP):c.1160-2A>C	SNV Germline	Chr22:50526143	Pathogenic	Mitochondrial DNA depletion syndrome 1	No Assertion Criteria Provided	CA16616802	rs_1064792877	1 SubmittersRCV000208627
NM_001953.5(TYMP):c.1160-2A>G	SNV Germline	Chr22:50526143	Pathogenic	Mitochondrial DNA depletion syndrome 1	No Assertion Criteria Provided	CA16616803	rs_1064792877	1 SubmittersRCV000208670
NM_001953.5(TYMP):c.1300+1G>A	SNV Germline	Chr22:50526000	Pathogenic	Mitochondrial DNA depletion syndrome 1 Inborn genetic diseases Mitochondrial neurogastrointestinal encephalomyopathy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16616804	rs_1064792878	7 SubmittersRCV000208711 RCV001266751 RCV001828047 RCV002515561
NM_001953.5(TYMP):c.1300+2T>A	SNV Germline	Chr22:50525999	Pathogenic	Mitochondrial DNA depletion syndrome 1	No Assertion Criteria Provided	CA16616805	rs_1064792879	1 SubmittersRCV000208650
NM_001953.5(TYMP):c.1301-1G>A	SNV Germline	Chr22:50525919	Likely pathogenic	Mitochondrial DNA depletion syndrome 1	Criteria Provided Single Submitter	CA16616806	rs_773785934	2 SubmittersRCV000208666
NM_001278716.2(FBXL4):c.1442T>C (p.Leu481Pro)	SNV Germline	Chr6:98875675	Likely pathogenic	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA3933439	rs_772037717	3 SubmittersRCV000223958 RCV001570260
NM_130837.3(OPA1):c.1766T>G (p.Leu589Arg)	SNV Germline	Chr3:193647076	Pathogenic	Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)	No Assertion Criteria Provided	CA357235	rs_869312995	1 SubmittersRCV000210746
NM_007215.4(POLG2):c.544C>T (p.Arg182Trp)	SNV Germline	Chr17:64496425	Conflicting classifications of pathogenicity	Acute liver failure Condition: not provided Mitochondrial DNA depletion syndrome 16A Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4	Criteria Provided Conflicting Classifications	CA10586136	rs_886037843	5 SubmittersRCV000258005 RCV000432548 RCV000824678 RCV002290967
NM_001151.4(SLC25A4):c.239G>A (p.Arg80His)	SNV Germline/somatic	Chr4:185144891	Pathogenic	Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant Condition: not provided Mitochondrial disease Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA10602460	rs_886041081	6 SubmittersRCV000258873 RCV000479591 RCV000491010 RCV000624243
NM_001151.4(SLC25A4):c.703C>G (p.Arg235Gly)	SNV Germline	Chr4:185145863	Pathogenic	Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant Mitochondrial disease	No Assertion Criteria Provided	CA10602461	rs_886041082	2 SubmittersRCV000258874 RCV000491457
NM_001151.4(SLC25A4):c.707G>C (p.Arg236Pro)	SNV Germline	Chr4:185145867	Pathogenic	Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive	No Assertion Criteria Provided	CA10602683	rs_770816416	1 SubmittersRCV000258878
NM_002437.5(MPV17):c.373C>T (p.Arg125Trp)	SNV Germline	Chr2:27312496	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) Condition: not provided Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) Charcot-Marie-Tooth disease, axonal, type 2EE	Criteria Provided Conflicting Classifications	CA1575585	rs_112170670	8 SubmittersRCV000338177 RCV000730532 RCV003227479 RCV003320359
NM_002437.5(MPV17):c.164T>C (p.Val55Ala)	SNV Germline	Chr2:27313016	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) Condition: not provided Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)	Criteria Provided Conflicting Classifications	CA1575657	rs_575558175	3 SubmittersRCV000348274 RCV001499817 RCV003227480
NM_001953.5(TYMP):c.1176C>T (p.Val392=)	SNV Germline	Chr22:50526125	Conflicting classifications of pathogenicity	Condition: not provided Mitochondrial neurogastrointestinal encephalomyopathy Mitochondrial DNA depletion syndrome 1	Criteria Provided Conflicting Classifications	CA10321445	rs_770533125	4 SubmittersRCV000916747 RCV001272324 RCV001148523
NM_001953.5(TYMP):c.930G>A (p.Gly310=)	SNV Germline	Chr22:50526475	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA10321514	rs_773100466	2 SubmittersRCV000334785 RCV001402473
NM_001953.5(TYMP):c.858G>A (p.Glu286=)	SNV Germline	Chr22:50526646	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 1 Condition: not provided Mitochondrial neurogastrointestinal encephalomyopathy TYMP-related disorder	Criteria Provided Conflicting Classifications	CA10321549	rs_372421189	6 SubmittersRCV000367266 RCV000924526 RCV001272327 RCV003950191
NM_001953.5(TYMP):c.516+14C>T	SNV Germline	Chr22:50528498	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA10321737	rs_780757016	2 SubmittersRCV000320448 RCV003556352
NM_001953.5(TYMP):c.1137G>A (p.Glu379=)	SNV Germline	Chr22:50526268	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA10321479	rs_764142194	3 SubmittersRCV001148524 RCV001436435
NM_001953.5(TYMP):c.1028T>G (p.Phe343Cys)	SNV Germline	Chr22:50526377	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 1 Condition: not provided TYMP-related disorder	Criteria Provided Conflicting Classifications	CA10321499	rs_762630777	3 SubmittersRCV001148526 RCV001478639 RCV003957767
NM_001953.5(TYMP):c.995C>T (p.Ala332Val)	SNV Germline	Chr22:50526410	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 1 Condition: not provided TYMP-related disorder	Criteria Provided Conflicting Classifications	CA10321506	rs_778306525	3 SubmittersRCV001148527 RCV001399738 RCV003957768
NM_001953.5(TYMP):c.647-8C>T	SNV Germline	Chr22:50527291	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA10321602	rs_753922795	2 SubmittersRCV000307838 RCV000976220
NM_001953.5(TYMP):c.1443G>A (p.Gln481=)	SNV Germline	Chr22:50525776	Conflicting classifications of pathogenicity	Condition: not provided Mitochondrial neurogastrointestinal encephalomyopathy Mitochondrial DNA depletion syndrome 1 not specified TYMP-related disorder	Criteria Provided Conflicting Classifications	CA10321390	rs_377497287	8 SubmittersRCV000676455 RCV001272319 RCV001145763 RCV005434850 RCV004752866
NM_001953.5(TYMP):c.1044G>A (p.Ala348=)	SNV Germline	Chr22:50526361	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA10654207	rs_886057633	2 SubmittersRCV001148525 RCV003765979
NM_001953.5(TYMP):c.756A>C (p.Ala252=)	SNV Germline	Chr22:50527174	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA10654208	rs_886057635	2 SubmittersRCV000370621 RCV001422715
NM_001953.5(TYMP):c.516+10G>A	SNV Germline	Chr22:50528502	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA10321740	rs_552829713	2 SubmittersRCV000377442 RCV001505985
NM_001278716.2(FBXL4):c.419T>C (p.Val140Ala)	SNV Germline	Chr6:98926570	Pathogenic/Likely pathogenic	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16020684	rs_1057519447	6 SubmittersRCV000416414 RCV002521494
NM_002437.5(MPV17):c.191C>G (p.Pro64Arg)	SNV Germline	Chr2:27312768	Pathogenic/Likely pathogenic	Condition: not provided Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) Mitochondrial DNA depletion syndrome Charcot-Marie-Tooth disease, axonal, type 2EE Charcot-Marie-Tooth disease, axonal, type 2EE Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)	Criteria Provided Multiple Submitters No Conflicts	CA1575632	rs_375401970	14 SubmittersRCV000439109 RCV000855706 RCV003227483 RCV003401418 RCV003470380 RCV005027487
NM_001278716.2(FBXL4):c.351G>A (p.Thr117=)	SNV Germline	Chr6:98926638	Conflicting classifications of pathogenicity	not specified Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933704	rs_375173811	3 SubmittersRCV000442612 RCV000504348 RCV001462606
NM_001278716.2(FBXL4):c.1353A>G (p.Ser451=)	SNV Germline	Chr6:98880589	Conflicting classifications of pathogenicity	not specified Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933468	rs_141165629	3 SubmittersRCV000440338 RCV000504299 RCV006462794
NM_001278716.2(FBXL4):c.1317+14A>G	SNV Germline	Chr6:98899254	Conflicting classifications of pathogenicity	not specified Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933486	rs_182139048	3 SubmittersRCV000426610 RCV000501519 RCV002058943
NM_001278716.2(FBXL4):c.1304G>A (p.Arg435Gln)	SNV Germline	Chr6:98899281	Pathogenic/Likely pathogenic	Condition: not provided Mitochondrial DNA depletion syndrome 13 Inborn genetic diseases Leigh syndrome	Criteria Provided Multiple Submitters No Conflicts	CA3933489	rs_754142863	5 SubmittersRCV000493951 RCV000501572 RCV000623300 RCV004782406
NM_130837.3(OPA1):c.2617C>T (p.Arg873Trp)	SNV Germline	Chr3:193662918	Conflicting classifications of pathogenicity	Condition: not provided Abortive cerebellar ataxia Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy Glaucoma, normal tension, susceptibility to Autosomal dominant optic atrophy classic form Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy	Criteria Provided Conflicting Classifications	CA2759706	rs_143252541	4 SubmittersRCV000498253 RCV002489224 RCV004584733
NM_001278716.2(FBXL4):c.*9A>G	SNV Germline	Chr6:98874269	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933330	rs_185850413	3 SubmittersRCV000501110 RCV001555610
NM_001278716.2(FBXL4):c.1838T>A (p.Val613Glu)	SNV Germline	Chr6:98874306	Likely pathogenic	Mitochondrial DNA depletion syndrome 13	Criteria Provided Single Submitter	CA16020678	rs_1554215766	1 SubmittersRCV000504289
NM_001278716.2(FBXL4):c.1790A>C (p.Gln597Pro)	SNV Germline	Chr6:98874354	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA3933338	rs_201989042	6 SubmittersRCV000502841 RCV000657861 RCV004525949
NM_001278716.2(FBXL4):c.1788G>A (p.Ser596=)	SNV Germline	Chr6:98874356	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933339	rs_745713189	2 SubmittersRCV000503469 RCV002524395
NM_001278716.2(FBXL4):c.1772A>G (p.Asp591Gly)	SNV Germline	Chr6:98874372	Likely pathogenic	Mitochondrial DNA depletion syndrome 13	Criteria Provided Single Submitter	CA16021023	rs_747618415	1 SubmittersRCV000500771
NM_001278716.2(FBXL4):c.1772A>C (p.Asp591Ala)	SNV Germline	Chr6:98874372	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13	Criteria Provided Conflicting Classifications	CA3933345	rs_747618415	2 SubmittersRCV000503844
NM_001278716.2(FBXL4):c.1764T>G (p.Ser588=)	SNV Germline	Chr6:98874380	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933346	rs_770326964	2 SubmittersRCV000501464 RCV003565431
NM_001278716.2(FBXL4):c.1750T>C (p.Cys584Arg)	SNV Germline	Chr6:98874394	Likely pathogenic	Mitochondrial DNA depletion syndrome 13	Criteria Provided Single Submitter	CA16021022	rs_1554215804	1 SubmittersRCV000504456
NM_001278716.2(FBXL4):c.1729T>C (p.Leu577=)	SNV Germline	Chr6:98874415	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933354	rs_756228059	2 SubmittersRCV000502173 RCV005056096
NM_001278716.2(FBXL4):c.1723G>T (p.Ala575Ser)	SNV Germline	Chr6:98874421	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933355	rs_200435702	2 SubmittersRCV000501068 RCV001402425
NM_001278716.2(FBXL4):c.1722G>A (p.Pro574=)	SNV Germline	Chr6:98874422	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933357	rs_373647205	2 SubmittersRCV000502068 RCV006556126
NM_001278716.2(FBXL4):c.1703-14T>C	SNV Germline	Chr6:98874455	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933368	rs_773834428	2 SubmittersRCV000501808 RCV002524391
NM_001278716.2(FBXL4):c.1702+18A>G	SNV Germline	Chr6:98875397	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933399	rs_776605924	2 SubmittersRCV000500661 RCV002524390
NM_001278716.2(FBXL4):c.1702+11A>T	SNV Germline	Chr6:98875404	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933400	rs_369407577	2 SubmittersRCV000503437 RCV003574780
NM_001278716.2(FBXL4):c.1699T>C (p.Leu567=)	SNV Germline	Chr6:98875418	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933403	rs_183776114	2 SubmittersRCV000502633 RCV002060161
NM_001278716.2(FBXL4):c.1698A>G (p.Ile566Met)	SNV Germline	Chr6:98875419	Pathogenic/Likely pathogenic	Mitochondrial DNA depletion syndrome 13	Criteria Provided Multiple Submitters No Conflicts	CA16020683	rs_1554215959	3 SubmittersRCV000500228
NM_001278716.2(FBXL4):c.1689G>A (p.Gln563=)	SNV Germline	Chr6:98875428	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933404	rs_767302112	2 SubmittersRCV000501544 RCV005091123
NM_001278716.2(FBXL4):c.1687C>T (p.Gln563Ter)	SNV Germline	Chr6:98875430	Pathogenic	Mitochondrial DNA depletion syndrome 13	Criteria Provided Single Submitter	CA16020676	rs_1554215964	1 SubmittersRCV000501548
NM_001278716.2(FBXL4):c.1656T>C (p.Asp552=)	SNV Germline	Chr6:98875461	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933410	rs_779344587	3 SubmittersRCV000501277 RCV002060160
NM_001278716.2(FBXL4):c.1652T>A (p.Ile551Asn)	SNV Germline	Chr6:98875465	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13	Criteria Provided Conflicting Classifications	CA16021021	rs_1554215979	2 SubmittersRCV000502490
NM_001278716.2(FBXL4):c.1622C>T (p.Thr541Ile)	SNV Germline	Chr6:98875495	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 not specified	Criteria Provided Conflicting Classifications	CA16020675	rs_1391578014	2 SubmittersRCV000500362 RCV003155218
NM_001278716.2(FBXL4):c.1586C>A (p.Ala529Glu)	SNV Germline	Chr6:98875531	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 not specified	Criteria Provided Conflicting Classifications	CA365086857	rs_1443104983	2 SubmittersRCV000503405 RCV005418173
NM_001278716.2(FBXL4):c.1569G>C (p.Gly523=)	SNV Germline	Chr6:98875548	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933420	rs_11537982	2 SubmittersRCV000500232 RCV006463172
NM_001278716.2(FBXL4):c.1566C>T (p.Thr522=)	SNV Germline	Chr6:98875551	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933422	rs_149704398	3 SubmittersRCV000501894 RCV000827600
NM_001278716.2(FBXL4):c.1540T>G (p.Trp514Gly)	SNV Germline	Chr6:98875577	Likely pathogenic	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16021070	rs_1411907961	3 SubmittersRCV000501986 RCV003237885
NM_001278716.2(FBXL4):c.1518A>G (p.Leu506=)	SNV Germline	Chr6:98875599	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933431	rs_556881504	2 SubmittersRCV000503257 RCV003766864
NM_001278716.2(FBXL4):c.1464A>G (p.Arg488=)	SNV Germline	Chr6:98875653	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided FBXL4-related disorder	Criteria Provided Conflicting Classifications	CA3933436	rs_748404878	4 SubmittersRCV000500701 RCV003311830 RCV003925499
NM_001278716.2(FBXL4):c.1449C>G (p.Thr483=)	SNV Germline	Chr6:98875668	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933437	rs_144468932	2 SubmittersRCV000504094 RCV005056095
NM_001278716.2(FBXL4):c.1445G>A (p.Arg482Gln)	SNV Germline	Chr6:98875672	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided FBXL4-related disorder	Criteria Provided Conflicting Classifications	CA3933438	rs_200372976	3 SubmittersRCV000502337 RCV002056894 RCV003915400
NM_001278716.2(FBXL4):c.1411G>A (p.Ala471Thr)	SNV Germline	Chr6:98875706	Likely pathogenic	Mitochondrial DNA depletion syndrome 13	Criteria Provided Single Submitter	CA16021080	rs_1227524799	1 SubmittersRCV000501437
NM_001278716.2(FBXL4):c.1389+18C>A	SNV Germline	Chr6:98880535	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933458	rs_200207652	2 SubmittersRCV000501953 RCV006463171
NM_001278716.2(FBXL4):c.1389+13G>C	SNV Germline	Chr6:98880540	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933459	rs_768430744	2 SubmittersRCV000499515 RCV002527325
NM_001278716.2(FBXL4):c.1360C>T (p.Gln454Ter)	SNV Germline	Chr6:98880582	Likely pathogenic	Mitochondrial DNA depletion syndrome 13	Criteria Provided Single Submitter	CA3933466	rs_750973870	1 SubmittersRCV000502039
NM_001278716.2(FBXL4):c.1318-15G>C	SNV Germline	Chr6:98880639	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933475	rs_373175308	2 SubmittersRCV000499869 RCV002524385
NM_001278716.2(FBXL4):c.1318-16T>C	SNV Germline	Chr6:98880640	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933476	rs_768679543	2 SubmittersRCV000503919 RCV002527324
NM_001278716.2(FBXL4):c.1317+19T>G	SNV Germline	Chr6:98899249	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933484	rs_201615847	2 SubmittersRCV000499740 RCV002056893
NM_001278716.2(FBXL4):c.1317G>A (p.Glu439=)	SNV Germline	Chr6:98899268	Pathogenic	Mitochondrial DNA depletion syndrome 13	Criteria Provided Single Submitter	CA16021019	rs_1554218789	1 SubmittersRCV000504527
NM_001278716.2(FBXL4):c.1304G>T (p.Arg435Leu)	SNV Germline	Chr6:98899281	Likely pathogenic	Mitochondrial DNA depletion syndrome 13	Criteria Provided Multiple Submitters No Conflicts	CA16021018	rs_754142863	2 SubmittersRCV000503061
NM_001278716.2(FBXL4):c.1288C>T (p.Arg430Ter)	SNV Germline	Chr6:98899297	Pathogenic/Likely pathogenic	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA3933492	rs_758395213	7 SubmittersRCV000503988 RCV001857195
NM_001278716.2(FBXL4):c.1254T>A (p.Ala418=)	SNV Germline	Chr6:98899331	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933494	rs_374215533	2 SubmittersRCV000504489 RCV006612371
NM_001278716.2(FBXL4):c.1251A>G (p.Gln417=)	SNV Germline	Chr6:98899334	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA3933496	rs_151258576	3 SubmittersRCV000500348 RCV000601399 RCV000911514
NM_001278716.2(FBXL4):c.1232G>A (p.Cys411Tyr)	SNV Germline	Chr6:98899353	Pathogenic/Likely pathogenic	Mitochondrial DNA depletion syndrome 13 Condition: not provided Leigh syndrome	Criteria Provided Multiple Submitters No Conflicts	CA3933499	rs_773850151	7 SubmittersRCV000499421 RCV001591147 RCV004800434
NM_001278716.2(FBXL4):c.1229C>T (p.Ser410Phe)	SNV Germline	Chr6:98899356	Likely pathogenic	Mitochondrial DNA depletion syndrome 13	Criteria Provided Single Submitter	CA16021017	rs_1554218821	1 SubmittersRCV000503199
NM_001278716.2(FBXL4):c.1210C>T (p.Gln404Ter)	SNV Germline	Chr6:98899375	Pathogenic	Mitochondrial DNA depletion syndrome 13	Criteria Provided Single Submitter	CA16020685	rs_1187832552	1 SubmittersRCV000501652
NM_001278716.2(FBXL4):c.1209A>G (p.Leu403=)	SNV Germline	Chr6:98899376	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933504	rs_764546116	3 SubmittersRCV000503479 RCV002060159
NM_001278716.2(FBXL4):c.1135C>T (p.Arg379Cys)	SNV Germline	Chr6:98899450	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA3933516	rs_778692687	5 SubmittersRCV000502310 RCV001865633 RCV001805121
NM_001278716.2(FBXL4):c.1125C>T (p.Ser375=)	SNV Germline	Chr6:98899460	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided FBXL4-related disorder	Criteria Provided Conflicting Classifications	CA3933518	rs_377550308	3 SubmittersRCV000503941 RCV000898248 RCV003935320
NM_001278716.2(FBXL4):c.1104-4G>T	SNV Germline	Chr6:98899485	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933522	rs_370992555	2 SubmittersRCV000501417 RCV000911866
NM_001278716.2(FBXL4):c.1104-13G>T	SNV Germline	Chr6:98899494	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933523	rs_118092784	2 SubmittersRCV000500302 RCV005056094
NM_001278716.2(FBXL4):c.1104-19T>C	SNV Germline	Chr6:98899500	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933524	rs_765527736	2 SubmittersRCV000503699 RCV003766863
NM_001278716.2(FBXL4):c.1103+13C>T	SNV Germline	Chr6:98905413	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933546	rs_182076681	3 SubmittersRCV000501936 RCV002056892
NM_001278716.2(FBXL4):c.1103+13C>G	SNV Germline	Chr6:98905413	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933547	rs_182076681	2 SubmittersRCV000499497 RCV002524379
NM_001278716.2(FBXL4):c.1083C>T (p.Ile361=)	SNV Germline	Chr6:98905446	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933552	rs_368029297	2 SubmittersRCV000501016 RCV000919426
NM_001278716.2(FBXL4):c.1073G>A (p.Arg358Lys)	SNV Germline	Chr6:98905456	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933553	rs_372544390	3 SubmittersRCV000499891 RCV002060158
NM_001278716.2(FBXL4):c.1056A>G (p.Leu352=)	SNV Germline	Chr6:98905473	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933558	rs_779748858	2 SubmittersRCV000500757 RCV002060157
NM_001278716.2(FBXL4):c.1020A>G (p.Leu340=)	SNV Germline	Chr6:98905509	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided FBXL4-related disorder	Criteria Provided Conflicting Classifications	CA3933562	rs_747657121	4 SubmittersRCV000503383 RCV002056891 RCV003960188
NM_001278716.2(FBXL4):c.1009C>T (p.Leu337=)	SNV Germline	Chr6:98905520	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933564	rs_778318524	2 SubmittersRCV000500501 RCV002524378
NM_001278716.2(FBXL4):c.954G>A (p.Leu318=)	SNV Germline	Chr6:98905575	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933574	rs_762811521	2 SubmittersRCV000503050 RCV002527319
NM_001278716.2(FBXL4):c.936G>A (p.Gln312=)	SNV Germline	Chr6:98905593	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933580	rs_142814111	2 SubmittersRCV000502028 RCV000929666
NM_001278716.2(FBXL4):c.906A>G (p.Arg302=)	SNV Germline	Chr6:98905623	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933585	rs_746193063	2 SubmittersRCV000503752 RCV002527318
NM_001278716.2(FBXL4):c.903T>A (p.Cys301Ter)	SNV Germline	Chr6:98905626	Likely pathogenic	Mitochondrial DNA depletion syndrome 13	Criteria Provided Single Submitter	CA3933587	rs_775768793	1 SubmittersRCV000499516
NM_001278716.2(FBXL4):c.859-1G>T	SNV Germline	Chr6:98905671	Pathogenic/Likely pathogenic	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA3933594	rs_368965675	2 SubmittersRCV000500730 RCV002524376
NM_001278716.2(FBXL4):c.858+5G>C	SNV Germline	Chr6:98917369	Likely pathogenic	Mitochondrial DNA depletion syndrome 13	Criteria Provided Single Submitter	CA16021031	rs_1257765682	1 SubmittersRCV000500975
NM_001278716.2(FBXL4):c.858+1G>T	SNV Germline	Chr6:98917373	Pathogenic	Mitochondrial DNA depletion syndrome 13	Criteria Provided Single Submitter	CA16021032	rs_1394080480	1 SubmittersRCV000502413
NM_001278716.2(FBXL4):c.822G>T (p.Gly274=)	SNV Germline	Chr6:98917410	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933611	rs_774255399	2 SubmittersRCV000504552 RCV005091122
NM_001278716.2(FBXL4):c.813C>T (p.Leu271=)	SNV Germline	Chr6:98917419	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933614	rs_146999462	3 SubmittersRCV000504047 RCV002527317
NM_001278716.2(FBXL4):c.766G>A (p.Gly256Ser)	SNV Germline	Chr6:98917466	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933619	rs_765912815	3 SubmittersRCV000501431 RCV002524373
NM_001278716.2(FBXL4):c.747T>C (p.Asp249=)	SNV Germline	Chr6:98917485	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933624	rs_138206466	2 SubmittersRCV000499420 RCV005056093
NM_001278716.2(FBXL4):c.747T>A (p.Asp249Glu)	SNV Germline	Chr6:98917485	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933623	rs_138206466	3 SubmittersRCV000503165 RCV001424242
NM_001278716.2(FBXL4):c.744T>C (p.Asp248=)	SNV Germline	Chr6:98917488	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933625	rs_149549442	2 SubmittersRCV000501707 RCV003114629
NM_001278716.2(FBXL4):c.737T>C (p.Ile246Thr)	SNV Germline	Chr6:98917495	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933626	rs_143154211	6 SubmittersRCV000499583 RCV000676936
NM_001278716.2(FBXL4):c.735T>C (p.Asp245=)	SNV Germline	Chr6:98917497	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933628	rs_369242693	2 SubmittersRCV000501174 RCV002524370
NM_001278716.2(FBXL4):c.714T>G (p.Thr238=)	SNV Germline	Chr6:98917518	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933634	rs_776419278	3 SubmittersRCV000500156 RCV002056890
NM_001278716.2(FBXL4):c.702T>C (p.Leu234=)	SNV Germline	Chr6:98917530	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA16020677	rs_1554221171	3 SubmittersRCV000504466 RCV001559548
NM_001278716.2(FBXL4):c.666A>C (p.Ala222=)	SNV Germline	Chr6:98917566	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933642	rs_781455701	2 SubmittersRCV000503462 RCV002527316
NM_001278716.2(FBXL4):c.662A>T (p.Asp221Val)	SNV Germline	Chr6:98917570	Likely pathogenic	Mitochondrial DNA depletion syndrome 13	Criteria Provided Single Submitter	CA16021016	rs_1554221189	1 SubmittersRCV000501080
NM_001278716.2(FBXL4):c.661G>C (p.Asp221His)	SNV Germline	Chr6:98917571	Likely pathogenic	Mitochondrial DNA depletion syndrome 13	Criteria Provided Single Submitter	CA16021015	rs_1554221191	1 SubmittersRCV000499569
NM_001278716.2(FBXL4):c.616C>T (p.Arg206Ter)	SNV Germline	Chr6:98917616	Pathogenic/Likely pathogenic	Mitochondrial DNA depletion syndrome 13 Inborn genetic diseases Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16021028	rs_964532159	6 SubmittersRCV000499561 RCV005338208 RCV005648010
NM_001278716.2(FBXL4):c.614T>C (p.Ile205Thr)	SNV Germline	Chr6:98917618	Likely pathogenic	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16021014	rs_1350566881	2 SubmittersRCV000502664 RCV004719842
NM_001278716.2(FBXL4):c.541A>G (p.Thr181Ala)	SNV Germline	Chr6:98917691	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933660	rs_150748757	3 SubmittersRCV000503771 RCV001731732
NM_001278716.2(FBXL4):c.540T>G (p.Pro180=)	SNV Germline	Chr6:98917692	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933661	rs_760238524	2 SubmittersRCV000502306 RCV000961148
NM_001278716.2(FBXL4):c.513-1G>A	SNV Germline	Chr6:98917720	Pathogenic	Mitochondrial DNA depletion syndrome 13	Criteria Provided Single Submitter	CA16021030	rs_1554221258	1 SubmittersRCV000504007
NM_001278716.2(FBXL4):c.513-13C>G	SNV Germline	Chr6:98917732	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933666	rs_200592647	2 SubmittersRCV000503390 RCV002524366
NM_001278716.2(FBXL4):c.445G>A (p.Gly149Arg)	SNV Germline	Chr6:98926544	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 not specified	Criteria Provided Conflicting Classifications	CA16021013	rs_1345325140	2 SubmittersRCV000501207 RCV006263998
NM_001278716.2(FBXL4):c.370C>T (p.Gln124Ter)	SNV Germline	Chr6:98926619	Pathogenic/Likely pathogenic	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA3933702	rs_761974928	2 SubmittersRCV000502768 RCV006556124
NM_001278716.2(FBXL4):c.316C>T (p.Gln106Ter)	SNV Germline	Chr6:98926673	Pathogenic	Mitochondrial DNA depletion syndrome 13	Criteria Provided Multiple Submitters No Conflicts	CA16021027	rs_1554222122	3 SubmittersRCV000503270
NM_001278716.2(FBXL4):c.300T>C (p.Tyr100=)	SNV Germline	Chr6:98926689	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided FBXL4-related disorder	Criteria Provided Conflicting Classifications	CA3933710	rs_573472397	3 SubmittersRCV000502389 RCV002524360 RCV003900057
NM_001278716.2(FBXL4):c.292C>T (p.Arg98Ter)	SNV Germline	Chr6:98926697	Pathogenic/Likely pathogenic	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16021026	rs_1554222130	9 SubmittersRCV000501775 RCV001280758
NM_001278716.2(FBXL4):c.252A>G (p.Val84=)	SNV Germline	Chr6:98926737	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933713	rs_756896976	2 SubmittersRCV000503979 RCV005056092
NM_001278716.2(FBXL4):c.249T>C (p.Asn83=)	SNV Germline	Chr6:98926740	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933714	rs_372346466	2 SubmittersRCV000500438 RCV003766862
NM_001278716.2(FBXL4):c.219T>C (p.Tyr73=)	SNV Germline	Chr6:98926770	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933718	rs_747536886	3 SubmittersRCV000500539 RCV002524359
NM_001278716.2(FBXL4):c.219T>A (p.Tyr73Ter)	SNV Germline	Chr6:98926770	Pathogenic	Mitochondrial DNA depletion syndrome 13	Criteria Provided Multiple Submitters No Conflicts	CA16021025	rs_747536886	3 SubmittersRCV000499646
NM_001278716.2(FBXL4):c.135C>T (p.Ser45=)	SNV Germline	Chr6:98926854	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933729	rs_764057679	2 SubmittersRCV000502693 RCV002060156
NM_001278716.2(FBXL4):c.125G>A (p.Ser42Asn)	SNV Germline	Chr6:98926864	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3933733	rs_750080180	2 SubmittersRCV000500084 RCV005338209
NM_001278716.2(FBXL4):c.106A>T (p.Arg36Ter)	SNV Germline	Chr6:98926883	Pathogenic	Mitochondrial DNA depletion syndrome 13 Inborn genetic diseases Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16021024	rs_1182326570	3 SubmittersRCV000502743 RCV000622677 RCV001865630
NM_001278716.2(FBXL4):c.104A>G (p.His35Arg)	SNV Germline	Chr6:98926885	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933738	rs_201901274	2 SubmittersRCV000502463 RCV003766861
NM_001278716.2(FBXL4):c.79A>G (p.Thr27Ala)	SNV Germline	Chr6:98926910	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3933743	rs_142853738	4 SubmittersRCV000499838 RCV000908721 RCV002527314
NM_001278716.2(FBXL4):c.78T>C (p.Ala26=)	SNV Germline	Chr6:98926911	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933744	rs_774610091	3 SubmittersRCV000503535 RCV002524357
NM_001278716.2(FBXL4):c.65G>A (p.Arg22Gln)	SNV Germline	Chr6:98926924	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933746	rs_147696366	3 SubmittersRCV000499943 RCV002060155
NM_001278716.2(FBXL4):c.48T>C (p.Tyr16=)	SNV Germline	Chr6:98926941	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 FBXL4-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA3933755	rs_748705687	3 SubmittersRCV000502606 RCV003900056 RCV002524355
NM_001278716.2(FBXL4):c.36C>G (p.Thr12=)	SNV Germline	Chr6:98926953	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933758	rs_749635212	2 SubmittersRCV000502127 RCV000885031
NM_001278716.2(FBXL4):c.9G>A (p.Pro3=)	SNV Germline	Chr6:98926980	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3933768	rs_773041308	3 SubmittersRCV000503341 RCV000676939
NM_001953.5(TYMP):c.628A>C (p.Ser210Arg)	SNV Germline	Chr22:50527606	Pathogenic	Mitochondrial DNA depletion syndrome 1	Criteria Provided Single Submitter	CA10321685	rs_761665644	1 SubmittersRCV000508974
NM_052865.4(MGME1):c.532C>T (p.Arg178Trp)	SNV Germline	Chr20:17975704	Conflicting classifications of pathogenicity	Condition: not provided Mitochondrial DNA depletion syndrome 11 not specified	Criteria Provided Conflicting Classifications	CA9774969	rs_143417446	6 SubmittersRCV000513784 RCV000709839 RCV006438163
NM_012140.5(SLC25A10):c.304A>T (p.Lys102Ter)	SNV Germline	Chr17:81715568	Likely pathogenic	Mitochondrial complex I deficiency Mitochondrial DNA depletion syndrome 19	Criteria Provided Multiple Submitters No Conflicts	CA401517376	rs_1555703272	3 SubmittersRCV000516166 RCV001251077
NM_130837.3(OPA1):c.85C>G (p.Pro29Ala)	SNV Germline	Chr3:193614775	Conflicting classifications of pathogenicity	Condition: not provided Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) not specified Inborn genetic diseases OPA1-related disorder	Criteria Provided Conflicting Classifications	CA2758932	rs_145565705	7 SubmittersRCV000594159 RCV001335766 RCV001662637 RCV002530950 RCV004737850
NM_002437.5(MPV17):c.31C>T (p.Leu11=)	SNV Germline	Chr2:27322487	Conflicting classifications of pathogenicity	Condition: not provided Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) MPV17-related disorder	Criteria Provided Conflicting Classifications	CA1575724	rs_540291444	4 SubmittersRCV000595516 RCV003227495 RCV004543330
NM_001953.5(TYMP):c.517-15G>A	SNV Germline	Chr22:50527732	Conflicting classifications of pathogenicity	not specified Mitochondrial DNA depletion syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA10321706	rs_372690172	3 SubmittersRCV000606871 RCV001145862 RCV002065305
NM_002437.5(MPV17):c.122G>A (p.Arg41Gln)	SNV Germline	Chr2:27313058	Pathogenic/Likely pathogenic	Charcot-Marie-Tooth disease, axonal, type 2EE Condition: not provided Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) Mitochondrial DNA depletion syndrome Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) MPV17-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA1575667	rs_140992482	15 SubmittersRCV000768421 RCV000792530 RCV002279731 RCV003226382 RCV003227501 RCV004733041
NM_001953.5(TYMP):c.929-1G>A	SNV Germline	Chr22:50526477	Pathogenic/Likely pathogenic	Mitochondrial DNA depletion syndrome 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA412198435	rs_1180285291	2 SubmittersRCV000779376 RCV003768446
NM_001151.4(SLC25A4):c.238C>G (p.Arg80Gly)	SNV Germline	Chr4:185144890	Likely pathogenic	Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant	Criteria Provided Single Submitter	CA358896187	rs_1560841701	1 SubmittersRCV000785891
NM_013393.3(MRM2):c.565G>A (p.Gly189Arg)	SNV Germline	Chr7:2235298	Pathogenic	Mitochondrial DNA depletion syndrome 17	No Assertion Criteria Provided	CA366598562	rs_1584622847	1 SubmittersRCV000850108
NM_001953.5(TYMP):c.1001T>G (p.Leu334Arg)	SNV Germline	Chr22:50526404	Likely pathogenic	Mitochondrial DNA depletion syndrome 1	Criteria Provided Single Submitter	CA412198033	rs_1251044974	1 SubmittersRCV000855774
NM_002437.5(MPV17):c.390C>G (p.Ala130=)	SNV Germline	Chr2:27312232	Conflicting classifications of pathogenicity	Condition: not provided Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)	Criteria Provided Conflicting Classifications	CA1575538	rs_760281019	3 SubmittersRCV000877399 RCV001142395 RCV003227504
NM_052865.4(MGME1):c.242C>G (p.Pro81Arg)	SNV Germline	Chr20:17970101	Conflicting classifications of pathogenicity	Condition: not provided Mitochondrial DNA depletion syndrome 11	Criteria Provided Conflicting Classifications	CA9774900	rs_150656271	3 SubmittersRCV000883567 RCV002487937
NM_001953.5(TYMP):c.194G>A (p.Ser65Asn)	SNV Germline	Chr22:50529516	Conflicting classifications of pathogenicity	Condition: not provided Mitochondrial neurogastrointestinal encephalomyopathy Mitochondrial DNA depletion syndrome 1	Criteria Provided Conflicting Classifications	CA10321859	rs_570047465	4 SubmittersRCV000944682 RCV001276281 RCV005392571
NM_001278716.2(FBXL4):c.1673G>A (p.Cys558Tyr)	SNV Germline	Chr6:98875444	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA143896347	rs_995995791	2 SubmittersRCV000987754 RCV002549686
NM_001278716.2(FBXL4):c.622G>T (p.Glu208Ter)	SNV Unknown	Chr6:98917610	Pathogenic	Mitochondrial DNA depletion syndrome 13	Criteria Provided Single Submitter	CA365084234	rs_1582425406	1 SubmittersRCV000987755
NM_030631.4(SLC25A21):c.695A>G (p.Lys232Arg)	SNV Germline	Chr14:36684834	Pathogenic	Mitochondrial DNA depletion syndrome 18	No Assertion Criteria Provided	CA389465307	rs_1389068504	1 SubmittersRCV001027733
NM_001953.5(TYMP):c.1048C>T (p.Gln350Ter)	SNV Germline	Chr22:50526357	Pathogenic/Likely pathogenic	Mitochondrial DNA depletion syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA412197788	rs_765023287	3 SubmittersRCV001027995
NM_001953.5(TYMP):c.646+1G>A	SNV Germline	Chr22:50527587	Pathogenic/Likely pathogenic	Condition: not provided Mitochondrial DNA depletion syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA10321682	rs_760629248	3 SubmittersRCV001047337 RCV003467749
NM_001953.5(TYMP):c.945G>A (p.Trp315Ter)	SNV Germline	Chr22:50526460	Pathogenic/Likely pathogenic	Condition: not provided Mitochondrial DNA depletion syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA412198304	rs_1052593047	4 SubmittersRCV001090365 RCV003469279
NM_001953.5(TYMP):c.193A>G (p.Ser65Gly)	SNV Germline	Chr22:50529517	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA10321860	rs_146922557	3 SubmittersRCV001148634 RCV001475082
NM_001953.5(TYMP):c.520C>T (p.Gln174Ter)	SNV Germline	Chr22:50527714	Pathogenic/Likely pathogenic	Mitochondrial DNA depletion syndrome 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA412201519	rs_2069446068	2 SubmittersRCV003462796 RCV001234540
NM_001953.5(TYMP):c.417+1G>A	SNV Germline	Chr22:50529135	Pathogenic	Mitochondrial DNA depletion syndrome 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA412201901	rs_1603442040	3 SubmittersRCV003462808 RCV001238376
NM_001278716.2(FBXL4):c.1252G>C (p.Ala418Pro)	SNV Germline	Chr6:98899333	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA16021275	rs_542852839	3 SubmittersRCV001254155 RCV003236884 RCV003987816
NM_001953.5(TYMP):c.1159+1G>A	SNV Germline	Chr22:50526245	Pathogenic	Inborn genetic diseases Condition: not provided Mitochondrial DNA depletion syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA325560602	rs_1044840059	4 SubmittersRCV001266752 RCV001880125 RCV004570658
NM_001278716.2(FBXL4):c.1389+11G>A	SNV Germline	Chr6:98880542	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA16021093	rs_1770815162	2 SubmittersRCV001334682 RCV002547329
NM_001278716.2(FBXL4):c.299A>G (p.Tyr100Cys)	SNV Germline	Chr6:98926690	Likely pathogenic	Mitochondrial DNA depletion syndrome 13	Criteria Provided Single Submitter	CA365089807	rs_2128405537	1 SubmittersRCV001449961
NM_001278716.2(FBXL4):c.486T>A (p.Tyr162Ter)	SNV Germline	Chr6:98926503	Pathogenic/Likely pathogenic	Condition: not provided Mitochondrial DNA depletion syndrome 13	Criteria Provided Multiple Submitters No Conflicts	CA365088378	rs_1562245046	3 SubmittersRCV001545084 RCV002471120
NM_001953.5(TYMP):c.809T>C (p.Leu270Pro)	SNV Germline	Chr22:50526695	Likely pathogenic	Mitochondrial DNA depletion syndrome 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA412199381	rs_1178421926	2 SubmittersRCV001783996 RCV002034609
NM_007215.4(POLG2):c.775C>T (p.Arg259Ter)	SNV Germline	Chr17:64492687	Conflicting classifications of pathogenicity	Condition: not provided Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 Mitochondrial DNA depletion syndrome 16 (hepatic type)	Criteria Provided Conflicting Classifications	CA8712924	rs_782006396	4 SubmittersRCV003560869 RCV001839326
NM_001953.5(TYMP):c.214+1G>T	SNV Germline	Chr22:50529495	Likely pathogenic	Condition: not provided Mitochondrial DNA depletion syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA412202426	rs_1200609783	2 SubmittersRCV002040737 RCV002498041
NM_001953.5(TYMP):c.235C>T (p.Arg79Ter)	SNV Germline	Chr22:50529318	Pathogenic/Likely pathogenic	Condition: not provided Mitochondrial DNA depletion syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA412202321	rs_2069504242	5 SubmittersRCV001950980 RCV003147714
NM_001953.5(TYMP):c.647-1G>A	SNV Germline	Chr22:50527284	Pathogenic/Likely pathogenic	Condition: not provided Mitochondrial DNA depletion syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA412200953	rs_1295236603	2 SubmittersRCV002003360 RCV004571893
NM_030631.4(SLC25A21):c.532C>T (p.Arg178Ter)	SNV Germline	Chr14:36711389	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 18 Condition: not provided	Criteria Provided Conflicting Classifications	CA7159264	rs_200963388	2 SubmittersRCV002250844 RCV006470299
NM_001278716.2(FBXL4):c.1350T>G (p.Cys450Trp)	SNV Germline	Chr6:98880592	Likely pathogenic	Mitochondrial DNA depletion syndrome 13	Criteria Provided Single Submitter	CA365089464	rs_2128378917	1 SubmittersRCV002267200
NM_001953.5(TYMP):c.323G>A (p.Trp108Ter)	SNV Germline	Chr22:50529230	Pathogenic/Likely pathogenic	Mitochondrial DNA depletion syndrome 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA412202089	rs_2522546758	3 SubmittersRCV002468811 RCV002573597
NM_001953.5(TYMP):c.1040T>C (p.Leu347Pro)	SNV Germline	Chr22:50526365	Pathogenic/Likely pathogenic	Condition: not provided Mitochondrial DNA depletion syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA412197822	rs_2522513131	3 SubmittersRCV003050585 RCV003147815
NM_001953.5(TYMP):c.739C>T (p.Gln247Ter)	SNV Germline	Chr22:50527191	Pathogenic/Likely pathogenic	Condition: not provided Mitochondrial DNA depletion syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA325561956	rs_767575537	2 SubmittersRCV002726776 RCV004571218
NM_003201.3(TFAM):c.291+9A>G	SNV Germline	Chr10:58388269	Conflicting classifications of pathogenicity	Condition: not provided Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) TFAM-related disorder Clear cell carcinoma of kidney	Criteria Provided Conflicting Classifications	CA5507922	rs_201846997	4 SubmittersRCV002913338 RCV003147796 RCV003973521 RCV005926361
NM_001953.5(TYMP):c.298C>T (p.Gln100Ter)	SNV Germline	Chr22:50529255	Pathogenic/Likely pathogenic	Mitochondrial DNA depletion syndrome 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA412202146	rs_2522546966	2 SubmittersRCV003466484 RCV005100240
NM_001953.5(TYMP):c.1085C>A (p.Ser362Ter)	SNV Unknown	Chr22:50526320	Likely pathogenic	Mitochondrial DNA depletion syndrome 1	Criteria Provided Single Submitter	CA412197604	rs_1603441843	1 SubmittersRCV003464756
NM_001953.5(TYMP):c.535C>T (p.Gln179Ter)	SNV Unknown	Chr22:50527699	Likely pathogenic	Mitochondrial DNA depletion syndrome 1	Criteria Provided Single Submitter	CA412201462	rs_2069445752	1 SubmittersRCV003464757
NM_001953.5(TYMP):c.214+1G>C	SNV Unknown	Chr22:50529495	Likely pathogenic	Mitochondrial DNA depletion syndrome 1 Thyroid cancer, nonmedullary, 1	Criteria Provided Single Submitter	CA412202427	rs_1200609783	2 SubmittersRCV003466486 RCV005927726
NM_001953.5(TYMP):c.418-1G>A	SNV Germline	Chr22:50528611	Likely pathogenic	Mitochondrial DNA depletion syndrome 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA412201891	rs_2522539725	3 SubmittersRCV003466487 RCV003661064
NM_001953.5(TYMP):c.417+2T>G	SNV Unknown	Chr22:50529134	Likely pathogenic	Mitochondrial DNA depletion syndrome 1	Criteria Provided Single Submitter	CA412201898	rs_1603442039	1 SubmittersRCV003464760
NM_001953.5(TYMP):c.391C>T (p.Pro131Ser)	SNV Germline	Chr22:50529162	Likely pathogenic	Mitochondrial DNA depletion syndrome 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA412201951	rs_863224255	2 SubmittersRCV005030241 RCV003731120
NM_001953.5(TYMP):c.432C>T (p.Ser144=)	SNV Germline	Chr22:50528596	Conflicting classifications of pathogenicity	Condition: not provided Mitochondrial DNA depletion syndrome 1	Criteria Provided Conflicting Classifications	CA515274959	rs_751803871	2 SubmittersRCV003832165 RCV005392714
NM_013393.3(MRM2):c.8+1G>T	SNV Germline	Chr7:2242161	Pathogenic	Mitochondrial DNA depletion syndrome 17	No Assertion Criteria Provided	CA4124169	rs_749074594	1 SubmittersRCV003890776
NM_001278716.2(FBXL4):c.197G>A (p.Gly66Glu)	SNV Germline	Chr6:98926792	Likely pathogenic	Mitochondrial DNA depletion syndrome 13	Criteria Provided Single Submitter	CA365090808	rs_2535146567	1 SubmittersRCV003983757
NM_001953.5(TYMP):c.765+2T>C	SNV Unknown	Chr22:50527163	Likely pathogenic	Mitochondrial DNA depletion syndrome 1	Criteria Provided Single Submitter		rs_2522525264	1 SubmittersRCV004573801
NM_001953.5(TYMP):c.748G>T (p.Glu250Ter)	SNV Unknown	Chr22:50527182	Likely pathogenic	Mitochondrial DNA depletion syndrome 1	Criteria Provided Single Submitter		rs_1250541303	1 SubmittersRCV004573802
NM_001953.5(TYMP):c.736G>T (p.Glu246Ter)	SNV Unknown	Chr22:50527194	Likely pathogenic	Mitochondrial DNA depletion syndrome 1	Criteria Provided Single Submitter		rs_567858165	1 SubmittersRCV004573803
NM_001953.5(TYMP):c.454G>T (p.Gly152Ter)	SNV Germline	Chr22:50528574	Likely pathogenic	Mitochondrial DNA depletion syndrome 1	Criteria Provided Single Submitter			1 SubmittersRCV004720694
NM_001278716.2(FBXL4):c.517G>T (p.Glu173Ter)	SNV Germline	Chr6:98917715	Pathogenic	Mitochondrial DNA depletion syndrome 13	Criteria Provided Single Submitter			1 SubmittersRCV004765476
NM_001953.5(TYMP):c.1447T>C (p.Ter483Gln)	SNV Germline	Chr22:50525772	Likely pathogenic	Mitochondrial DNA depletion syndrome 1	Criteria Provided Single Submitter			1 SubmittersRCV005034857
NM_001953.5(TYMP):c.765+1G>C	SNV Germline	Chr22:50527164	Likely pathogenic	Mitochondrial DNA depletion syndrome 1	Criteria Provided Single Submitter			1 SubmittersRCV005034858
NM_001953.5(TYMP):c.214+2T>C	SNV Germline	Chr22:50529494	Likely pathogenic	Mitochondrial DNA depletion syndrome 1	Criteria Provided Single Submitter			1 SubmittersRCV005030929
NM_001151.4(SLC25A4):c.423G>C (p.Leu141Phe)	SNV Germline	Chr4:185145075	Likely pathogenic	Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive	Criteria Provided Single Submitter			1 SubmittersRCV005233192
NM_001278716.2(FBXL4):c.301G>A (p.Gly101Arg)	SNV Germline	Chr6:98926688	Likely pathogenic	Mitochondrial DNA depletion syndrome 13	Criteria Provided Single Submitter			1 SubmittersRCV005233230
NM_001278716.2(FBXL4):c.605C>G (p.Thr202Arg)	SNV Germline	Chr6:98917627	Likely pathogenic	Mitochondrial DNA depletion syndrome 13	Criteria Provided Single Submitter			1 SubmittersRCV005233235
NM_007215.4(POLG2):c.1192-1G>A	SNV Germline	Chr17:64480390	Likely pathogenic	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 Mitochondrial DNA depletion syndrome 16 (hepatic type) Mitochondrial dna depletion syndrome 16B (neuroophthalmic type)	Criteria Provided Single Submitter			1 SubmittersRCV005356689
NM_012140.5(SLC25A10):c.329-2A>T	SNV Germline	Chr17:81715691	Likely pathogenic	Mitochondrial DNA depletion syndrome 19	Criteria Provided Single Submitter			1 SubmittersRCV005356796
NM_001953.5(TYMP):c.342C>G (p.Asp114Glu)	SNV Germline	Chr22:50529211	Likely pathogenic	Mitochondrial DNA depletion syndrome 1	Criteria Provided Single Submitter			1 SubmittersRCV005410377
NM_001953.5(TYMP):c.518T>A (p.Met173Lys)	SNV Germline	Chr22:50527716	Likely pathogenic	Mitochondrial DNA depletion syndrome 1	No Assertion Criteria Provided			1 SubmittersRCV006444438
NM_001278716.2(FBXL4):c.1703-2A>G	SNV Germline	Chr6:98874443	Likely pathogenic	Mitochondrial DNA depletion syndrome 13	Criteria Provided Single Submitter			1 SubmittersRCV005624153
NM_001953.5(TYMP):c.130C>T (p.Arg44Ter)	SNV Unknown	Chr22:50529580	Pathogenic	Mitochondrial DNA depletion syndrome 1	Criteria Provided Single Submitter			1 SubmittersRCV005637822
NM_130837.3(OPA1):c.1052A>G (p.Asp351Gly)	SNV Germline	Chr3:193637968	Pathogenic	MITOCHONDRIAL DNA DEPLETION SYNDROME 14A (ENCEPHALOMYOPATHIC TYPE)	No Assertion Criteria Provided			1 SubmittersRCV006455042
NM_130837.3(OPA1):c.967T>C (p.Tyr323His)	SNV Germline	Chr3:193637213	Pathogenic	MITOCHONDRIAL DNA DEPLETION SYNDROME 14A (ENCEPHALOMYOPATHIC TYPE)	No Assertion Criteria Provided			1 SubmittersRCV006455043

SNV
Germline

ChrMT:8313

Likely pathogenic

Mitochondrial DNA depletion syndrome 1
Mitochondrial disease
Primary mitochondrial disorders

Reviewed By Expert Panel

CA254837

rs_118192101

3 SubmittersRCV000010200 RCV003162233 RCV006555293

NM_002693.3(POLG):c.752C>T (p.Thr251Ile)

SNV
Germline

Chr15:89330184

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 4b
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Mitochondrial DNA depletion syndrome 1
Progressive sclerosing poliodystrophy
Condition: not provided
not specified
POLG-related disorder
Global developmental delay
Mitochondrial DNA depletion syndrome 4b
Progressive sclerosing poliodystrophy
Tip-toe gait
Abnormality of the nervous system
Inborn genetic diseases
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Mitochondrial disease
Hypertrophic cardiomyopathy
Hereditary spastic paraplegia
Mitochondrial DNA depletion syndrome 4b
Progressive sclerosing poliodystrophy
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
See cases
Mitochondrial DNA depletion syndrome
Mitochondrial DNA depletion syndrome 4b
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive sclerosing poliodystrophy
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
6 conditions

Criteria Provided
Conflicting Classifications

CA123142

rs_113994094

51 SubmittersRCV000014448 RCV000014447 RCV000020484 RCV000184009 RCV000188641 RCV000194055 RCV000262479 RCV000415105 RCV001004407 RCV001678594 RCV001813985 RCV002313708 RCV001642225 RCV002272019 RCV002319423 RCV001847602 RCV003458331 RCV004584325 RCV005406744 RCV005007846 RCV005357125

NM_002693.3(POLG):c.1760C>T (p.Pro587Leu)

SNV
Germline

Chr15:89325639

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 4b
Mitochondrial DNA depletion syndrome 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
not specified
Progressive sclerosing poliodystrophy
Condition: not provided
Mitochondrial disease
Global developmental delay
Mitochondrial DNA depletion syndrome 4b
Progressive sclerosing poliodystrophy
Tip-toe gait
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Abnormality of the nervous system
Inborn genetic diseases
Hereditary spastic paraplegia
Hypertrophic cardiomyopathy
Mitochondrial DNA depletion syndrome 4b
Progressive sclerosing poliodystrophy
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
See cases
6 conditions
POLG-related disorder

Criteria Provided
Conflicting Classifications

CA123146

rs_113994096

52 SubmittersRCV000014456 RCV000020473 RCV000186576 RCV000193529 RCV000408293 RCV000427845 RCV000508752 RCV000415307 RCV001004602 RCV001610290 RCV001642226 RCV001813986 RCV002313709 RCV001847603 RCV002319424 RCV003458332 RCV004584326 RCV005357126 RCV006439572

NM_002437.5(MPV17):c.148C>T (p.Arg50Trp)

SNV
Germline

Chr2:27313032

Pathogenic

Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
Condition: not provided
Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)
Charcot-Marie-Tooth disease, axonal, type 2EE
Charcot-Marie-Tooth disease, axonal, type 2EE
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
Mitochondrial DNA depletion syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA341382

rs_121909723

10 SubmittersRCV000017545 RCV000264441 RCV003227464 RCV003473105 RCV005025062 RCV006451898

NM_001122659.3(EDNRB):c.914G>A (p.Ser305Asn)

SNV
Germline

Chr13:77901095

Conflicting classifications of pathogenicity

Hirschsprung disease, susceptibility to, 2
not specified
Waardenburg syndrome type 2A
Waardenburg syndrome type 4A
Condition: not provided
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant
ABCD syndrome
Hirschsprung disease, susceptibility to, 2
Waardenburg syndrome type 4A

Criteria Provided
Conflicting Classifications

CA257563

rs_5352

13 SubmittersRCV000018118 RCV000222856 RCV000626404 RCV000659497 RCV000954472 RCV001258252 RCV005394165

NM_001953.5(TYMP):c.866A>C (p.Glu289Ala)

SNV
Germline

Chr22:50526638

Pathogenic

Mitochondrial DNA depletion syndrome 1
Condition: not provided
Mitochondrial neurogastrointestinal encephalomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA126758

rs_121913036

10 SubmittersRCV000018133 RCV000498727 RCV001276276

NM_001953.5(TYMP):c.516+2T>C

SNV
Germline

Chr22:50528510

Pathogenic

Mitochondrial DNA depletion syndrome 1

No Assertion Criteria Provided

CA212978

rs_797044454

2 SubmittersRCV000018134

NM_001953.5(TYMP):c.433G>A (p.Gly145Arg)

SNV
Germline

Chr22:50528595

Pathogenic/Likely pathogenic

Mitochondrial DNA depletion syndrome 1
Condition: not provided
Mitochondrial neurogastrointestinal encephalomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA126763

rs_121913037

10 SubmittersRCV000018135 RCV001049989 RCV001276278

NM_001953.5(TYMP):c.665A>G (p.Lys222Arg)

SNV
Germline

Chr22:50527265

Likely pathogenic

Mitochondrial DNA depletion syndrome 1
Condition: not provided
Mitochondrial neurogastrointestinal encephalomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA126768

rs_149977726

6 SubmittersRCV000018136 RCV000497545 RCV001831582

NM_001953.5(TYMP):c.1160-1G>C

SNV
Germline

Chr22:50526142

Likely pathogenic

Mitochondrial DNA depletion syndrome 1
Condition: not provided

Criteria Provided
Single Submitter

CA212981

rs_797044455

3 SubmittersRCV000018138 RCV006605190

NM_001953.5(TYMP):c.457G>A (p.Gly153Ser)

SNV
Germline

Chr22:50528571

Pathogenic

Mitochondrial DNA depletion syndrome 1
Condition: not provided
Mitochondrial neurogastrointestinal encephalomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA126774

rs_121913038

7 SubmittersRCV000018140 RCV001052862 RCV001826476

NM_001953.5(TYMP):c.131G>A (p.Arg44Gln)

SNV
Germline

Chr22:50529579

Pathogenic

Mitochondrial DNA depletion syndrome 1
Condition: not provided

Criteria Provided
Single Submitter

CA126779

rs_28931613

3 SubmittersRCV000018141 RCV002513094

NM_001953.5(TYMP):c.215-1G>C

SNV
Germline

Chr22:50529339

Pathogenic

Mitochondrial DNA depletion syndrome 1
Condition: not provided
Mitochondrial neurogastrointestinal encephalomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA212989

rs_767245071

8 SubmittersRCV000018142 RCV000599020 RCV001276279

NM_001953.5(TYMP):c.622G>A (p.Val208Met)

SNV
Germline

Chr22:50527612

Pathogenic/Likely pathogenic

Mitochondrial DNA depletion syndrome 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA126784

rs_121913039

13 SubmittersRCV000018143 RCV000199543

NM_001953.5(TYMP):c.931G>C (p.Gly311Arg)

SNV
Germline

Chr22:50526474

Pathogenic

Mitochondrial DNA depletion syndrome 1

No Assertion Criteria Provided

CA126791

rs_121913040

2 SubmittersRCV000018144

NM_001953.5(TYMP):c.605G>C (p.Arg202Thr)

SNV
Germline

Chr22:50527629

Likely pathogenic

Mitochondrial DNA depletion syndrome 1
Condition: not provided

Criteria Provided
Single Submitter

CA126797

rs_121913041

3 SubmittersRCV000018145 RCV003228895

NM_001953.5(TYMP):c.854T>C (p.Leu285Pro)

SNV
Germline

Chr22:50526650

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 1
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA126803

rs_121913042

5 SubmittersRCV000018146 RCV003556042 RCV006456619

NM_001151.4(SLC25A4):c.368C>A (p.Ala123Asp)

SNV
Germline

Chr4:185145020

Pathogenic/Likely pathogenic

Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive
Condition: not provided
Inborn mitochondrial myopathy
Hypertrophic cardiomyopathy
Mitochondrial respiratory chain defects
Abnormality of mitochondrial metabolism
Myopia
Progressive sensorineural hearing impairment
Vertigo
Left ventricular hypertrophy
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2

Criteria Provided
Multiple Submitters
No Conflicts

CA127988

rs_121912683

6 SubmittersRCV000019911 RCV000414338 RCV000626769 RCV000626767 RCV000626768 RCV001198599

NM_002437.5(MPV17):c.206G>A (p.Trp69Ter)

SNV
Germline

Chr2:27312753

Pathogenic/Likely pathogenic

Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
MPV17-related mitochondrial DNA maintenance defect
Condition: not provided
Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)
Charcot-Marie-Tooth disease, axonal, type 2EE

Criteria Provided
Multiple Submitters
No Conflicts

CA342971

rs_267607261

5 SubmittersRCV000031904 RCV000735226 RCV001385322 RCV003227465 RCV003460535

NM_052865.4(MGME1):c.456G>A (p.Trp152Ter)

SNV
Germline

Chr20:17970315

Pathogenic/Likely pathogenic

Mitochondrial DNA depletion syndrome 11

Criteria Provided
Multiple Submitters
No Conflicts

CA214404

rs_587776943

3 SubmittersRCV000033150

NM_052865.4(MGME1):c.698A>G (p.Tyr233Cys)

SNV
Germline

Chr20:17975870

Pathogenic

Mitochondrial DNA depletion syndrome 11

No Assertion Criteria Provided

CA214407

rs_587776944

1 SubmittersRCV000033151

NM_130837.3(OPA1):c.1311A>G (p.Ile437Met)

SNV
Germline

Chr3:193643378

Conflicting classifications of pathogenicity

Autosomal dominant optic atrophy classic form
Condition: not provided
Abortive cerebellar ataxia
Optic nerve hypoplasia
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
Autosomal dominant optic atrophy classic form
Abortive cerebellar ataxia
Inborn genetic diseases
OPA1-related disorder
not specified
Optic atrophy
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
Autosomal dominant optic atrophy classic form
Abortive cerebellar ataxia
Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)

Criteria Provided
Conflicting Classifications

CA143824

rs_143319805

21 SubmittersRCV000043607 RCV000081747 RCV000210748 RCV000677258 RCV001249638 RCV001267306 RCV004537182 RCV003993775 RCV004814984 RCV005394267

NM_001151.4(SLC25A4):c.111+1G>A

SNV
Germline

Chr4:185143484

Pathogenic

Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive

No Assertion Criteria Provided

CA144815

rs_398122942

1 SubmittersRCV000056253

NM_001278716.2(FBXL4):c.1555C>T (p.Gln519Ter)

SNV
Germline

Chr6:98875562

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA144883

rs_398123059

5 SubmittersRCV000056327 RCV001090674

NM_001278716.2(FBXL4):c.1303C>T (p.Arg435Ter)

SNV
Germline

Chr6:98899282

Pathogenic

Mitochondrial DNA depletion syndrome 13
Mitochondrial DNA depletion syndrome
Inborn genetic diseases
Condition: not provided
Leigh syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA144886

rs_201889294

12 SubmittersRCV000056328 RCV000604628 RCV000622490 RCV001837446 RCV005237491

NM_001278716.2(FBXL4):c.1703G>C (p.Gly568Ala)

SNV
Germline

Chr6:98874441

Pathogenic/Likely pathogenic

Mitochondrial DNA depletion syndrome 13
Developmental and epileptic encephalopathy, 85, with or without midline brain defects

Criteria Provided
Multiple Submitters
No Conflicts

CA144889

rs_398123060

5 SubmittersRCV000056329 RCV005861040

NM_001278716.2(FBXL4):c.1444C>T (p.Arg482Trp)

SNV
Germline

Chr6:98875673

Pathogenic/Likely pathogenic

Mitochondrial DNA depletion syndrome 13
Mitochondrial encephalomyopathy
Global developmental delay
Condition: not provided
Leigh syndrome
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA144891

rs_398123061

13 SubmittersRCV000056330 RCV000162170 RCV000224233 RCV003155062 RCV003242974

NM_001278716.2(FBXL4):c.1694A>G (p.Asp565Gly)

SNV
Germline

Chr6:98875423

Likely pathogenic

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA144893

rs_398123062

3 SubmittersRCV000056331 RCV005089466

NM_130837.3(OPA1):c.1148A>G (p.Lys383Arg)

SNV
Germline

Chr3:193638064

Pathogenic

Condition: not provided
Autosomal dominant optic atrophy classic form
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)

Criteria Provided
Multiple Submitters
No Conflicts

CA285745

rs_398124303

9 SubmittersRCV000081775 RCV000180653 RCV004786358 RCV004783739

NM_001953.5(TYMP):c.242G>A (p.Arg81Gln)

SNV
Germline

Chr22:50529311

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Mitochondrial DNA depletion syndrome 1
TYMP-related disorder

Criteria Provided
Conflicting Classifications

CA291564

rs_143789597

7 SubmittersRCV000126198 RCV000513951 RCV001145864 RCV003925249

NM_001953.5(TYMP):c.*3C>T

SNV
Germline

Chr22:50525767

Conflicting classifications of pathogenicity

not specified
Mitochondrial DNA depletion syndrome 1

Criteria Provided
Conflicting Classifications

CA291601

rs_372620403

2 SubmittersRCV000126207 RCV001145762

NM_130837.3(OPA1):c.33-8T>C

SNV
Germline

Chr3:193614715

Conflicting classifications of pathogenicity

Condition: not provided
not specified
OPA1-related disorder
Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)

Criteria Provided
Conflicting Classifications

CA241678

rs_370303596

5 SubmittersRCV000175870 RCV003993856 RCV004537390 RCV004786490

NM_130837.3(OPA1):c.2734C>T (p.Arg912Ter)

SNV
Germline

Chr3:193664952

Pathogenic

Condition: not provided
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
Autosomal dominant optic atrophy classic form
Abortive cerebellar ataxia
Glaucoma, normal tension, susceptibility to
Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)
Abortive cerebellar ataxia

Criteria Provided
Multiple Submitters
No Conflicts

CA275129

rs_794727405

7 SubmittersRCV000199431 RCV005025281 RCV005868019

NM_002693.3(POLG):c.3098C>T (p.Ala1033Val)

SNV
Germline

Chr15:89319234

Conflicting classifications of pathogenicity

Progressive sclerosing poliodystrophy
Condition: not provided
6 conditions
POLG-related disorder
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Malignant lymphoma, large B-cell, diffuse
Inborn genetic diseases
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Mitochondrial DNA depletion syndrome 1
Mitochondrial DNA depletion syndrome 4b
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Cervical cancer

Criteria Provided
Conflicting Classifications

CA316596

rs_551708243

14 SubmittersRCV000551001 RCV000710186 RCV000765239 RCV001121338 RCV001332169 RCV005892194 RCV004955314 RCV005361098 RCV005892193

NM_001278716.2(FBXL4):c.64C>T (p.Arg22Ter)

SNV
Germline

Chr6:98926925

Pathogenic/Likely pathogenic

Mitochondrial DNA depletion syndrome 13
Condition: not provided
Inborn genetic diseases
Neurodevelopmental delay

Criteria Provided
Multiple Submitters
No Conflicts

CA250339

rs_200440128

14 SubmittersRCV000191084 RCV000578719 RCV001267292 RCV002273980

NM_007215.4(POLG2):c.703A>G (p.Thr235Ala)

SNV
Germline

Chr17:64492759

Conflicting classifications of pathogenicity

Condition: not provided
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
Mitochondrial dna depletion syndrome 16B (neuroophthalmic type)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
Mitochondrial DNA depletion syndrome 16 (hepatic type)

Criteria Provided
Conflicting Classifications

CA322282

rs_148941150

5 SubmittersRCV000197824 RCV005230059 RCV005396594

NM_001953.5(TYMP):c.647-9C>G

SNV
Germline

Chr22:50527292

Conflicting classifications of pathogenicity

Condition: not provided
Mitochondrial DNA depletion syndrome 1
Mitochondrial neurogastrointestinal encephalomyopathy

Criteria Provided
Conflicting Classifications

CA321575

rs_549324764

4 SubmittersRCV000197130 RCV001143969 RCV001828032

NM_001953.5(TYMP):c.646+8G>A

SNV
Germline

Chr22:50527580

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Mitochondrial DNA depletion syndrome 1

Criteria Provided
Conflicting Classifications

CA322582

rs_200818286

4 SubmittersRCV000198097 RCV000909762 RCV001143970

NM_001953.5(TYMP):c.437G>A (p.Arg146His)

SNV
Germline

Chr22:50528591

Conflicting classifications of pathogenicity

Condition: not provided
Mitochondrial DNA depletion syndrome 1
Mitochondrial neurogastrointestinal encephalomyopathy

Criteria Provided
Conflicting Classifications

CA323181

rs_188802138

6 SubmittersRCV000198648 RCV000666806 RCV001833157

NM_001953.5(TYMP):c.391C>A (p.Pro131Thr)

SNV
Germline

Chr22:50529162

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA320183

rs_863224255

2 SubmittersRCV001260913 RCV002517272

NM_003201.3(TFAM):c.533C>T (p.Pro178Leu)

SNV
Germline

Chr10:58390856

Likely pathogenic

Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)

Criteria Provided
Single Submitter

CA5507988

rs_757075712

2 SubmittersRCV000256433

NM_001953.5(TYMP):c.647C>T (p.Ala216Val)

SNV
Germline

Chr22:50527283

Likely pathogenic

Mitochondrial DNA depletion syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16616766

rs_1064792855

2 SubmittersRCV000208630

NM_001953.5(TYMP):c.112G>T (p.Glu38Ter)

SNV
Germline

Chr22:50529598

Pathogenic

Mitochondrial DNA depletion syndrome 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16616769

rs_1054084896

4 SubmittersRCV000208680 RCV003556264

NM_001953.5(TYMP):c.128A>C (p.Lys43Thr)

SNV
Germline

Chr22:50529582

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 1
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA10321878

rs_752137335

3 SubmittersRCV000208616 RCV002517410 RCV003235133

NM_001953.5(TYMP):c.146T>G (p.Leu49Arg)

SNV
Germline

Chr22:50529564

Pathogenic

Mitochondrial DNA depletion syndrome 1

No Assertion Criteria Provided

CA16616770

rs_1064792857

1 SubmittersRCV000208699

NM_001953.5(TYMP):c.162C>G (p.Ile54Met)

SNV
Germline

Chr22:50529548

Pathogenic

Mitochondrial DNA depletion syndrome 1

No Assertion Criteria Provided

CA16616771

rs_1064792858

1 SubmittersRCV000208614

NM_001953.5(TYMP):c.261G>C (p.Glu87Asp)

SNV
Germline

Chr22:50529292

Pathogenic

Mitochondrial DNA depletion syndrome 1

No Assertion Criteria Provided

CA10321803

rs_749827433

1 SubmittersRCV000208698

NM_001953.5(TYMP):c.261G>T (p.Glu87Asp)

SNV
Germline

Chr22:50529292

Pathogenic

Mitochondrial DNA depletion syndrome 1

No Assertion Criteria Provided

CA16616773

rs_749827433

1 SubmittersRCV000208640

NM_001953.5(TYMP):c.275C>A (p.Thr92Asn)

SNV
Germline

Chr22:50529278

Pathogenic/Likely pathogenic

Mitochondrial DNA depletion syndrome 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16616774

rs_891107196

4 SubmittersRCV000208667 RCV001853324

NM_001953.5(TYMP):c.328C>T (p.Gln110Ter)

SNV
Germline

Chr22:50529225

Pathogenic

Mitochondrial DNA depletion syndrome 1

No Assertion Criteria Provided

CA16616775

rs_1064792860

1 SubmittersRCV000208694

NM_001953.5(TYMP):c.340G>A (p.Asp114Asn)

SNV
Germline

Chr22:50529213

Likely pathogenic

Mitochondrial DNA depletion syndrome 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16616776

rs_1064792861

4 SubmittersRCV000208638 RCV006272377

NM_001953.5(TYMP):c.398T>C (p.Leu133Pro)

SNV
Germline

Chr22:50529155

Pathogenic

Mitochondrial DNA depletion syndrome 1

No Assertion Criteria Provided

CA16616777

rs_1064792862

1 SubmittersRCV000208677

NM_001953.5(TYMP):c.401C>A (p.Ala134Glu)

SNV
Germline

Chr22:50529152

Pathogenic

Mitochondrial DNA depletion syndrome 1

No Assertion Criteria Provided

CA16616778

rs_199901350

1 SubmittersRCV000208707

NM_001953.5(TYMP):c.467A>G (p.Asp156Gly)

SNV
Germline

Chr22:50528561

Pathogenic

Mitochondrial DNA depletion syndrome 1

No Assertion Criteria Provided

CA16616779

rs_1064792863

1 SubmittersRCV000208704

NM_001953.5(TYMP):c.478T>C (p.Ser160Pro)

SNV
Germline

Chr22:50528550

Likely pathogenic

Mitochondrial DNA depletion syndrome 1

Criteria Provided
Single Submitter

CA16616780

rs_1064792864

2 SubmittersRCV000208643

NM_001953.5(TYMP):c.518T>G (p.Met173Arg)

SNV
Germline

Chr22:50527716

Likely pathogenic

Mitochondrial DNA depletion syndrome 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16616781

rs_1064792865

4 SubmittersRCV000208685 RCV004767153

NM_001953.5(TYMP):c.530T>C (p.Leu177Pro)

SNV
Germline

Chr22:50527704

Pathogenic

Mitochondrial DNA depletion syndrome 1

No Assertion Criteria Provided

CA16616782

rs_1064792866

1 SubmittersRCV000208713

NM_001953.5(TYMP):c.605G>A (p.Arg202Lys)

SNV
Germline

Chr22:50527629

Pathogenic

Mitochondrial DNA depletion syndrome 1

No Assertion Criteria Provided

CA10321689

rs_121913041

1 SubmittersRCV000208641

NM_001953.5(TYMP):c.623T>G (p.Val208Gly)

SNV
Germline

Chr22:50527611

Pathogenic

Mitochondrial DNA depletion syndrome 1

No Assertion Criteria Provided

CA16616783

rs_1064792867

1 SubmittersRCV000208663

NM_001953.5(TYMP):c.707T>C (p.Phe236Ser)

SNV
Germline

Chr22:50527223

Pathogenic

Mitochondrial DNA depletion syndrome 1

No Assertion Criteria Provided

CA16616784

rs_1064792868

1 SubmittersRCV000208618

NM_001953.5(TYMP):c.760A>C (p.Thr254Pro)

SNV
Germline

Chr22:50527170

Pathogenic

Mitochondrial DNA depletion syndrome 1

No Assertion Criteria Provided

CA16616786

rs_1064792870

1 SubmittersRCV000208703

NM_001953.5(TYMP):c.856G>A (p.Glu286Lys)

SNV
Germline

Chr22:50526648

Pathogenic

Mitochondrial DNA depletion syndrome 1

No Assertion Criteria Provided

CA16616788

rs_866001342

1 SubmittersRCV000208700

NM_001953.5(TYMP):c.865G>A (p.Glu289Lys)

SNV
Germline

Chr22:50526639

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 1
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA16616789

rs_946234163

4 SubmittersRCV000208626 RCV003556265 RCV005418019

NM_001953.5(TYMP):c.893G>A (p.Gly298Asp)

SNV
Germline

Chr22:50526611

Likely pathogenic

Mitochondrial DNA depletion syndrome 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16616790

rs_1064792872

4 SubmittersRCV000208710 RCV001853326

NM_001953.5(TYMP):c.931G>T (p.Gly311Cys)

SNV
Germline

Chr22:50526474

Pathogenic

Mitochondrial DNA depletion syndrome 1

No Assertion Criteria Provided

CA16616791

rs_121913040

1 SubmittersRCV000208708

NM_001953.5(TYMP):c.938T>C (p.Leu313Pro)

SNV
Germline

Chr22:50526467

Likely pathogenic

Mitochondrial DNA depletion syndrome 1

Criteria Provided
Single Submitter

CA16616792

rs_892141220

2 SubmittersRCV000208646

NM_001953.5(TYMP):c.1067T>C (p.Leu356Pro)

SNV
Germline

Chr22:50526338

Pathogenic

Mitochondrial DNA depletion syndrome 1

No Assertion Criteria Provided

CA16616793

rs_1060499532

1 SubmittersRCV000208689

NM_001953.5(TYMP):c.1159G>A (p.Gly387Ser)

SNV
Germline

Chr22:50526246

Pathogenic

Mitochondrial DNA depletion syndrome 1

No Assertion Criteria Provided

CA16616795

rs_1060499534

1 SubmittersRCV000208644

NM_001953.5(TYMP):c.1160G>A (p.Gly387Asp)

SNV
Germline

Chr22:50526141

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 1
not specified

Criteria Provided
Conflicting Classifications

CA16616796

rs_1064792873

3 SubmittersRCV000208687 RCV003235134

NM_001953.5(TYMP):c.1282G>A (p.Gly428Ser)

SNV
Germline

Chr22:50526019

Likely pathogenic

Mitochondrial DNA depletion syndrome 1
Condition: not provided

Criteria Provided
Single Submitter

CA16616797

rs_1064792874

2 SubmittersRCV000208625 RCV002515560

NM_001953.5(TYMP):c.1360G>C (p.Ala454Pro)

SNV
Germline

Chr22:50525859

Pathogenic

Mitochondrial DNA depletion syndrome 1

No Assertion Criteria Provided

CA16616799

rs_764275775

1 SubmittersRCV000208684

NM_001953.5(TYMP):c.1412C>A (p.Ser471Ter)

SNV
Germline

Chr22:50525807

Pathogenic

Mitochondrial DNA depletion syndrome 1

No Assertion Criteria Provided

CA10321405

rs_11479

1 SubmittersRCV000208621

NM_001953.5(TYMP):c.928+1G>A

SNV
Germline

Chr22:50526575

Pathogenic/Likely pathogenic

Mitochondrial DNA depletion syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16616800

rs_1064792876

3 SubmittersRCV000208662

NM_001953.5(TYMP):c.1160-1G>A

SNV
Germline

Chr22:50526142

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 1
Mitochondrial neurogastrointestinal encephalomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16616801

rs_797044455

10 SubmittersRCV000208629 RCV000606736 RCV001255087

NM_001953.5(TYMP):c.1159+2T>A

SNV
Germline

Chr22:50526244

Pathogenic

Mitochondrial DNA depletion syndrome 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10321473

rs_770277446

4 SubmittersRCV000208672 RCV000794156

NM_001953.5(TYMP):c.1160-2A>C

SNV
Germline

Chr22:50526143

Pathogenic

Mitochondrial DNA depletion syndrome 1

No Assertion Criteria Provided

CA16616802

rs_1064792877

1 SubmittersRCV000208627

NM_001953.5(TYMP):c.1160-2A>G

SNV
Germline

Chr22:50526143

Pathogenic

Mitochondrial DNA depletion syndrome 1

No Assertion Criteria Provided

CA16616803

rs_1064792877

1 SubmittersRCV000208670

NM_001953.5(TYMP):c.1300+1G>A

SNV
Germline

Chr22:50526000

Pathogenic

Mitochondrial DNA depletion syndrome 1
Inborn genetic diseases
Mitochondrial neurogastrointestinal encephalomyopathy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16616804

rs_1064792878

7 SubmittersRCV000208711 RCV001266751 RCV001828047 RCV002515561

NM_001953.5(TYMP):c.1300+2T>A

SNV
Germline

Chr22:50525999

Pathogenic

Mitochondrial DNA depletion syndrome 1

No Assertion Criteria Provided

CA16616805

rs_1064792879

1 SubmittersRCV000208650

NM_001953.5(TYMP):c.1301-1G>A

SNV
Germline

Chr22:50525919

Likely pathogenic

Mitochondrial DNA depletion syndrome 1

Criteria Provided
Single Submitter

CA16616806

rs_773785934

2 SubmittersRCV000208666

NM_001278716.2(FBXL4):c.1442T>C (p.Leu481Pro)

SNV
Germline

Chr6:98875675

Likely pathogenic

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA3933439

rs_772037717

3 SubmittersRCV000223958 RCV001570260

NM_130837.3(OPA1):c.1766T>G (p.Leu589Arg)

SNV
Germline

Chr3:193647076

Pathogenic

Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)

No Assertion Criteria Provided

CA357235

rs_869312995

1 SubmittersRCV000210746

NM_007215.4(POLG2):c.544C>T (p.Arg182Trp)

SNV
Germline

Chr17:64496425

Conflicting classifications of pathogenicity

Acute liver failure
Condition: not provided
Mitochondrial DNA depletion syndrome 16A
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4

Criteria Provided
Conflicting Classifications

CA10586136

rs_886037843

5 SubmittersRCV000258005 RCV000432548 RCV000824678 RCV002290967

NM_001151.4(SLC25A4):c.239G>A (p.Arg80His)

SNV
Germline/somatic

Chr4:185144891

Pathogenic

Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant
Condition: not provided
Mitochondrial disease
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA10602460

rs_886041081

6 SubmittersRCV000258873 RCV000479591 RCV000491010 RCV000624243

NM_001151.4(SLC25A4):c.703C>G (p.Arg235Gly)

SNV
Germline

Chr4:185145863

Pathogenic

Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant
Mitochondrial disease

No Assertion Criteria Provided

CA10602461

rs_886041082

2 SubmittersRCV000258874 RCV000491457

NM_001151.4(SLC25A4):c.707G>C (p.Arg236Pro)

SNV
Germline

Chr4:185145867

Pathogenic

Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive

No Assertion Criteria Provided

CA10602683

rs_770816416

1 SubmittersRCV000258878

NM_002437.5(MPV17):c.373C>T (p.Arg125Trp)

SNV
Germline

Chr2:27312496

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
Condition: not provided
Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)
Charcot-Marie-Tooth disease, axonal, type 2EE

Criteria Provided
Conflicting Classifications

CA1575585

rs_112170670

8 SubmittersRCV000338177 RCV000730532 RCV003227479 RCV003320359

NM_002437.5(MPV17):c.164T>C (p.Val55Ala)

SNV
Germline

Chr2:27313016

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
Condition: not provided
Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)

Criteria Provided
Conflicting Classifications

CA1575657

rs_575558175

3 SubmittersRCV000348274 RCV001499817 RCV003227480

NM_001953.5(TYMP):c.1176C>T (p.Val392=)

SNV
Germline

Chr22:50526125

Conflicting classifications of pathogenicity

Condition: not provided
Mitochondrial neurogastrointestinal encephalomyopathy
Mitochondrial DNA depletion syndrome 1

Criteria Provided
Conflicting Classifications

CA10321445

rs_770533125

4 SubmittersRCV000916747 RCV001272324 RCV001148523

NM_001953.5(TYMP):c.930G>A (p.Gly310=)

SNV
Germline

Chr22:50526475

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10321514

rs_773100466

2 SubmittersRCV000334785 RCV001402473

NM_001953.5(TYMP):c.858G>A (p.Glu286=)

SNV
Germline

Chr22:50526646

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 1
Condition: not provided
Mitochondrial neurogastrointestinal encephalomyopathy
TYMP-related disorder

Criteria Provided
Conflicting Classifications

CA10321549

rs_372421189

6 SubmittersRCV000367266 RCV000924526 RCV001272327 RCV003950191

NM_001953.5(TYMP):c.516+14C>T

SNV
Germline

Chr22:50528498

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10321737

rs_780757016

2 SubmittersRCV000320448 RCV003556352

NM_001953.5(TYMP):c.1137G>A (p.Glu379=)

SNV
Germline

Chr22:50526268

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10321479

rs_764142194

3 SubmittersRCV001148524 RCV001436435

NM_001953.5(TYMP):c.1028T>G (p.Phe343Cys)

SNV
Germline

Chr22:50526377

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 1
Condition: not provided
TYMP-related disorder

Criteria Provided
Conflicting Classifications

CA10321499

rs_762630777

3 SubmittersRCV001148526 RCV001478639 RCV003957767

NM_001953.5(TYMP):c.995C>T (p.Ala332Val)

SNV
Germline

Chr22:50526410

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 1
Condition: not provided
TYMP-related disorder

Criteria Provided
Conflicting Classifications

CA10321506

rs_778306525

3 SubmittersRCV001148527 RCV001399738 RCV003957768

NM_001953.5(TYMP):c.647-8C>T

SNV
Germline

Chr22:50527291

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10321602

rs_753922795

2 SubmittersRCV000307838 RCV000976220

NM_001953.5(TYMP):c.1443G>A (p.Gln481=)

SNV
Germline

Chr22:50525776

Conflicting classifications of pathogenicity

Condition: not provided
Mitochondrial neurogastrointestinal encephalomyopathy
Mitochondrial DNA depletion syndrome 1
not specified
TYMP-related disorder

Criteria Provided
Conflicting Classifications

CA10321390

rs_377497287

8 SubmittersRCV000676455 RCV001272319 RCV001145763 RCV005434850 RCV004752866

NM_001953.5(TYMP):c.1044G>A (p.Ala348=)

SNV
Germline

Chr22:50526361

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10654207

rs_886057633

2 SubmittersRCV001148525 RCV003765979

NM_001953.5(TYMP):c.756A>C (p.Ala252=)

SNV
Germline

Chr22:50527174

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10654208

rs_886057635

2 SubmittersRCV000370621 RCV001422715

NM_001953.5(TYMP):c.516+10G>A

SNV
Germline

Chr22:50528502

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10321740

rs_552829713

2 SubmittersRCV000377442 RCV001505985

NM_001278716.2(FBXL4):c.419T>C (p.Val140Ala)

SNV
Germline

Chr6:98926570

Pathogenic/Likely pathogenic

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16020684

rs_1057519447

6 SubmittersRCV000416414 RCV002521494

NM_002437.5(MPV17):c.191C>G (p.Pro64Arg)

SNV
Germline

Chr2:27312768

Pathogenic/Likely pathogenic

Condition: not provided
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)
Mitochondrial DNA depletion syndrome
Charcot-Marie-Tooth disease, axonal, type 2EE
Charcot-Marie-Tooth disease, axonal, type 2EE
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)

Criteria Provided
Multiple Submitters
No Conflicts

CA1575632

rs_375401970

14 SubmittersRCV000439109 RCV000855706 RCV003227483 RCV003401418 RCV003470380 RCV005027487

NM_001278716.2(FBXL4):c.351G>A (p.Thr117=)

SNV
Germline

Chr6:98926638

Conflicting classifications of pathogenicity

not specified
Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933704

rs_375173811

3 SubmittersRCV000442612 RCV000504348 RCV001462606

NM_001278716.2(FBXL4):c.1353A>G (p.Ser451=)

SNV
Germline

Chr6:98880589

Conflicting classifications of pathogenicity

not specified
Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933468

rs_141165629

3 SubmittersRCV000440338 RCV000504299 RCV006462794

NM_001278716.2(FBXL4):c.1317+14A>G

SNV
Germline

Chr6:98899254

Conflicting classifications of pathogenicity

not specified
Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933486

rs_182139048

3 SubmittersRCV000426610 RCV000501519 RCV002058943

NM_001278716.2(FBXL4):c.1304G>A (p.Arg435Gln)

SNV
Germline

Chr6:98899281

Pathogenic/Likely pathogenic

Condition: not provided
Mitochondrial DNA depletion syndrome 13
Inborn genetic diseases
Leigh syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA3933489

rs_754142863

5 SubmittersRCV000493951 RCV000501572 RCV000623300 RCV004782406

NM_130837.3(OPA1):c.2617C>T (p.Arg873Trp)

SNV
Germline

Chr3:193662918

Conflicting classifications of pathogenicity

Condition: not provided
Abortive cerebellar ataxia
Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
Glaucoma, normal tension, susceptibility to
Autosomal dominant optic atrophy classic form
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy

Criteria Provided
Conflicting Classifications

CA2759706

rs_143252541

4 SubmittersRCV000498253 RCV002489224 RCV004584733

NM_001278716.2(FBXL4):c.*9A>G

SNV
Germline

Chr6:98874269

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933330

rs_185850413

3 SubmittersRCV000501110 RCV001555610

NM_001278716.2(FBXL4):c.1838T>A (p.Val613Glu)

SNV
Germline

Chr6:98874306

Likely pathogenic

Mitochondrial DNA depletion syndrome 13

Criteria Provided
Single Submitter

CA16020678

rs_1554215766

1 SubmittersRCV000504289

NM_001278716.2(FBXL4):c.1790A>C (p.Gln597Pro)

SNV
Germline

Chr6:98874354

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA3933338

rs_201989042

6 SubmittersRCV000502841 RCV000657861 RCV004525949

NM_001278716.2(FBXL4):c.1788G>A (p.Ser596=)

SNV
Germline

Chr6:98874356

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933339

rs_745713189

2 SubmittersRCV000503469 RCV002524395

NM_001278716.2(FBXL4):c.1772A>G (p.Asp591Gly)

SNV
Germline

Chr6:98874372

Likely pathogenic

Mitochondrial DNA depletion syndrome 13

Criteria Provided
Single Submitter

CA16021023

rs_747618415

1 SubmittersRCV000500771

NM_001278716.2(FBXL4):c.1772A>C (p.Asp591Ala)

SNV
Germline

Chr6:98874372

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13

Criteria Provided
Conflicting Classifications

CA3933345

rs_747618415

2 SubmittersRCV000503844

NM_001278716.2(FBXL4):c.1764T>G (p.Ser588=)

SNV
Germline

Chr6:98874380

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933346

rs_770326964

2 SubmittersRCV000501464 RCV003565431

NM_001278716.2(FBXL4):c.1750T>C (p.Cys584Arg)

SNV
Germline

Chr6:98874394

Likely pathogenic

Mitochondrial DNA depletion syndrome 13

Criteria Provided
Single Submitter

CA16021022

rs_1554215804

1 SubmittersRCV000504456

NM_001278716.2(FBXL4):c.1729T>C (p.Leu577=)

SNV
Germline

Chr6:98874415

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933354

rs_756228059

2 SubmittersRCV000502173 RCV005056096

NM_001278716.2(FBXL4):c.1723G>T (p.Ala575Ser)

SNV
Germline

Chr6:98874421

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933355

rs_200435702

2 SubmittersRCV000501068 RCV001402425

NM_001278716.2(FBXL4):c.1722G>A (p.Pro574=)

SNV
Germline

Chr6:98874422

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933357

rs_373647205

2 SubmittersRCV000502068 RCV006556126

NM_001278716.2(FBXL4):c.1703-14T>C

SNV
Germline

Chr6:98874455

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933368

rs_773834428

2 SubmittersRCV000501808 RCV002524391

NM_001278716.2(FBXL4):c.1702+18A>G

SNV
Germline

Chr6:98875397

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933399

rs_776605924

2 SubmittersRCV000500661 RCV002524390

NM_001278716.2(FBXL4):c.1702+11A>T

SNV
Germline

Chr6:98875404

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933400

rs_369407577

2 SubmittersRCV000503437 RCV003574780

NM_001278716.2(FBXL4):c.1699T>C (p.Leu567=)

SNV
Germline

Chr6:98875418

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933403

rs_183776114

2 SubmittersRCV000502633 RCV002060161

NM_001278716.2(FBXL4):c.1698A>G (p.Ile566Met)

SNV
Germline

Chr6:98875419

Pathogenic/Likely pathogenic

Mitochondrial DNA depletion syndrome 13

Criteria Provided
Multiple Submitters
No Conflicts

CA16020683

rs_1554215959

3 SubmittersRCV000500228

NM_001278716.2(FBXL4):c.1689G>A (p.Gln563=)

SNV
Germline

Chr6:98875428

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933404

rs_767302112

2 SubmittersRCV000501544 RCV005091123

NM_001278716.2(FBXL4):c.1687C>T (p.Gln563Ter)

SNV
Germline

Chr6:98875430

Pathogenic

Mitochondrial DNA depletion syndrome 13

Criteria Provided
Single Submitter

CA16020676

rs_1554215964

1 SubmittersRCV000501548

NM_001278716.2(FBXL4):c.1656T>C (p.Asp552=)

SNV
Germline

Chr6:98875461

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933410

rs_779344587

3 SubmittersRCV000501277 RCV002060160

NM_001278716.2(FBXL4):c.1652T>A (p.Ile551Asn)

SNV
Germline

Chr6:98875465

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13

Criteria Provided
Conflicting Classifications

CA16021021

rs_1554215979

2 SubmittersRCV000502490

NM_001278716.2(FBXL4):c.1622C>T (p.Thr541Ile)

SNV
Germline

Chr6:98875495

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
not specified

Criteria Provided
Conflicting Classifications

CA16020675

rs_1391578014

2 SubmittersRCV000500362 RCV003155218

NM_001278716.2(FBXL4):c.1586C>A (p.Ala529Glu)

SNV
Germline

Chr6:98875531

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
not specified

Criteria Provided
Conflicting Classifications

CA365086857

rs_1443104983

2 SubmittersRCV000503405 RCV005418173

NM_001278716.2(FBXL4):c.1569G>C (p.Gly523=)

SNV
Germline

Chr6:98875548

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933420

rs_11537982

2 SubmittersRCV000500232 RCV006463172

NM_001278716.2(FBXL4):c.1566C>T (p.Thr522=)

SNV
Germline

Chr6:98875551

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933422

rs_149704398

3 SubmittersRCV000501894 RCV000827600

NM_001278716.2(FBXL4):c.1540T>G (p.Trp514Gly)

SNV
Germline

Chr6:98875577

Likely pathogenic

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16021070

rs_1411907961

3 SubmittersRCV000501986 RCV003237885

NM_001278716.2(FBXL4):c.1518A>G (p.Leu506=)

SNV
Germline

Chr6:98875599

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933431

rs_556881504

2 SubmittersRCV000503257 RCV003766864

NM_001278716.2(FBXL4):c.1464A>G (p.Arg488=)

SNV
Germline

Chr6:98875653

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided
FBXL4-related disorder

Criteria Provided
Conflicting Classifications

CA3933436

rs_748404878

4 SubmittersRCV000500701 RCV003311830 RCV003925499

NM_001278716.2(FBXL4):c.1449C>G (p.Thr483=)

SNV
Germline

Chr6:98875668

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933437

rs_144468932

2 SubmittersRCV000504094 RCV005056095

NM_001278716.2(FBXL4):c.1445G>A (p.Arg482Gln)

SNV
Germline

Chr6:98875672

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided
FBXL4-related disorder

Criteria Provided
Conflicting Classifications

CA3933438

rs_200372976

3 SubmittersRCV000502337 RCV002056894 RCV003915400

NM_001278716.2(FBXL4):c.1411G>A (p.Ala471Thr)

SNV
Germline

Chr6:98875706

Likely pathogenic

Mitochondrial DNA depletion syndrome 13

Criteria Provided
Single Submitter

CA16021080

rs_1227524799

1 SubmittersRCV000501437

NM_001278716.2(FBXL4):c.1389+18C>A

SNV
Germline

Chr6:98880535

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933458

rs_200207652

2 SubmittersRCV000501953 RCV006463171

NM_001278716.2(FBXL4):c.1389+13G>C

SNV
Germline

Chr6:98880540

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933459

rs_768430744

2 SubmittersRCV000499515 RCV002527325

NM_001278716.2(FBXL4):c.1360C>T (p.Gln454Ter)

SNV
Germline

Chr6:98880582

Likely pathogenic

Mitochondrial DNA depletion syndrome 13

Criteria Provided
Single Submitter

CA3933466

rs_750973870

1 SubmittersRCV000502039

NM_001278716.2(FBXL4):c.1318-15G>C

SNV
Germline

Chr6:98880639

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933475

rs_373175308

2 SubmittersRCV000499869 RCV002524385

NM_001278716.2(FBXL4):c.1318-16T>C

SNV
Germline

Chr6:98880640

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933476

rs_768679543

2 SubmittersRCV000503919 RCV002527324

NM_001278716.2(FBXL4):c.1317+19T>G

SNV
Germline

Chr6:98899249

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933484

rs_201615847

2 SubmittersRCV000499740 RCV002056893

NM_001278716.2(FBXL4):c.1317G>A (p.Glu439=)

SNV
Germline

Chr6:98899268

Pathogenic

Mitochondrial DNA depletion syndrome 13

Criteria Provided
Single Submitter

CA16021019

rs_1554218789

1 SubmittersRCV000504527

NM_001278716.2(FBXL4):c.1304G>T (p.Arg435Leu)

SNV
Germline

Chr6:98899281

Likely pathogenic

Mitochondrial DNA depletion syndrome 13

Criteria Provided
Multiple Submitters
No Conflicts

CA16021018

rs_754142863

2 SubmittersRCV000503061

NM_001278716.2(FBXL4):c.1288C>T (p.Arg430Ter)

SNV
Germline

Chr6:98899297

Pathogenic/Likely pathogenic

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA3933492

rs_758395213

7 SubmittersRCV000503988 RCV001857195

NM_001278716.2(FBXL4):c.1254T>A (p.Ala418=)

SNV
Germline

Chr6:98899331

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933494

rs_374215533

2 SubmittersRCV000504489 RCV006612371

NM_001278716.2(FBXL4):c.1251A>G (p.Gln417=)

SNV
Germline

Chr6:98899334

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933496

rs_151258576

3 SubmittersRCV000500348 RCV000601399 RCV000911514

NM_001278716.2(FBXL4):c.1232G>A (p.Cys411Tyr)

SNV
Germline

Chr6:98899353

Pathogenic/Likely pathogenic

Mitochondrial DNA depletion syndrome 13
Condition: not provided
Leigh syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA3933499

rs_773850151

7 SubmittersRCV000499421 RCV001591147 RCV004800434

NM_001278716.2(FBXL4):c.1229C>T (p.Ser410Phe)

SNV
Germline

Chr6:98899356

Likely pathogenic

Mitochondrial DNA depletion syndrome 13

Criteria Provided
Single Submitter

CA16021017

rs_1554218821

1 SubmittersRCV000503199

NM_001278716.2(FBXL4):c.1210C>T (p.Gln404Ter)

SNV
Germline

Chr6:98899375

Pathogenic

Mitochondrial DNA depletion syndrome 13

Criteria Provided
Single Submitter

CA16020685

rs_1187832552

1 SubmittersRCV000501652

NM_001278716.2(FBXL4):c.1209A>G (p.Leu403=)

SNV
Germline

Chr6:98899376

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933504

rs_764546116

3 SubmittersRCV000503479 RCV002060159

NM_001278716.2(FBXL4):c.1135C>T (p.Arg379Cys)

SNV
Germline

Chr6:98899450

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA3933516

rs_778692687

5 SubmittersRCV000502310 RCV001865633 RCV001805121

NM_001278716.2(FBXL4):c.1125C>T (p.Ser375=)

SNV
Germline

Chr6:98899460

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided
FBXL4-related disorder

Criteria Provided
Conflicting Classifications

CA3933518

rs_377550308

3 SubmittersRCV000503941 RCV000898248 RCV003935320

NM_001278716.2(FBXL4):c.1104-4G>T

SNV
Germline

Chr6:98899485

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933522

rs_370992555

2 SubmittersRCV000501417 RCV000911866

NM_001278716.2(FBXL4):c.1104-13G>T

SNV
Germline

Chr6:98899494

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933523

rs_118092784

2 SubmittersRCV000500302 RCV005056094

NM_001278716.2(FBXL4):c.1104-19T>C

SNV
Germline

Chr6:98899500

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933524

rs_765527736

2 SubmittersRCV000503699 RCV003766863

NM_001278716.2(FBXL4):c.1103+13C>T

SNV
Germline

Chr6:98905413

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933546

rs_182076681

3 SubmittersRCV000501936 RCV002056892

NM_001278716.2(FBXL4):c.1103+13C>G

SNV
Germline

Chr6:98905413

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933547

rs_182076681

2 SubmittersRCV000499497 RCV002524379

NM_001278716.2(FBXL4):c.1083C>T (p.Ile361=)

SNV
Germline

Chr6:98905446

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933552

rs_368029297

2 SubmittersRCV000501016 RCV000919426

NM_001278716.2(FBXL4):c.1073G>A (p.Arg358Lys)

SNV
Germline

Chr6:98905456

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933553

rs_372544390

3 SubmittersRCV000499891 RCV002060158

NM_001278716.2(FBXL4):c.1056A>G (p.Leu352=)

SNV
Germline

Chr6:98905473

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933558

rs_779748858

2 SubmittersRCV000500757 RCV002060157

NM_001278716.2(FBXL4):c.1020A>G (p.Leu340=)

SNV
Germline

Chr6:98905509

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided
FBXL4-related disorder

Criteria Provided
Conflicting Classifications

CA3933562

rs_747657121

4 SubmittersRCV000503383 RCV002056891 RCV003960188

NM_001278716.2(FBXL4):c.1009C>T (p.Leu337=)

SNV
Germline

Chr6:98905520

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933564

rs_778318524

2 SubmittersRCV000500501 RCV002524378

NM_001278716.2(FBXL4):c.954G>A (p.Leu318=)

SNV
Germline

Chr6:98905575

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933574

rs_762811521

2 SubmittersRCV000503050 RCV002527319

NM_001278716.2(FBXL4):c.936G>A (p.Gln312=)

SNV
Germline

Chr6:98905593

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933580

rs_142814111

2 SubmittersRCV000502028 RCV000929666

NM_001278716.2(FBXL4):c.906A>G (p.Arg302=)

SNV
Germline

Chr6:98905623

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933585

rs_746193063

2 SubmittersRCV000503752 RCV002527318

NM_001278716.2(FBXL4):c.903T>A (p.Cys301Ter)

SNV
Germline

Chr6:98905626

Likely pathogenic

Mitochondrial DNA depletion syndrome 13

Criteria Provided
Single Submitter

CA3933587

rs_775768793

1 SubmittersRCV000499516

NM_001278716.2(FBXL4):c.859-1G>T

SNV
Germline

Chr6:98905671

Pathogenic/Likely pathogenic

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA3933594

rs_368965675

2 SubmittersRCV000500730 RCV002524376

NM_001278716.2(FBXL4):c.858+5G>C

SNV
Germline

Chr6:98917369

Likely pathogenic

Mitochondrial DNA depletion syndrome 13

Criteria Provided
Single Submitter

CA16021031

rs_1257765682

1 SubmittersRCV000500975

NM_001278716.2(FBXL4):c.858+1G>T

SNV
Germline

Chr6:98917373

Pathogenic

Mitochondrial DNA depletion syndrome 13

Criteria Provided
Single Submitter

CA16021032

rs_1394080480

1 SubmittersRCV000502413

NM_001278716.2(FBXL4):c.822G>T (p.Gly274=)

SNV
Germline

Chr6:98917410

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933611

rs_774255399

2 SubmittersRCV000504552 RCV005091122

NM_001278716.2(FBXL4):c.813C>T (p.Leu271=)

SNV
Germline

Chr6:98917419

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933614

rs_146999462

3 SubmittersRCV000504047 RCV002527317

NM_001278716.2(FBXL4):c.766G>A (p.Gly256Ser)

SNV
Germline

Chr6:98917466

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933619

rs_765912815

3 SubmittersRCV000501431 RCV002524373

NM_001278716.2(FBXL4):c.747T>C (p.Asp249=)

SNV
Germline

Chr6:98917485

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933624

rs_138206466

2 SubmittersRCV000499420 RCV005056093

NM_001278716.2(FBXL4):c.747T>A (p.Asp249Glu)

SNV
Germline

Chr6:98917485

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933623

rs_138206466

3 SubmittersRCV000503165 RCV001424242

NM_001278716.2(FBXL4):c.744T>C (p.Asp248=)

SNV
Germline

Chr6:98917488

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933625

rs_149549442

2 SubmittersRCV000501707 RCV003114629

NM_001278716.2(FBXL4):c.737T>C (p.Ile246Thr)

SNV
Germline

Chr6:98917495

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933626

rs_143154211

6 SubmittersRCV000499583 RCV000676936

NM_001278716.2(FBXL4):c.735T>C (p.Asp245=)

SNV
Germline

Chr6:98917497

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933628

rs_369242693

2 SubmittersRCV000501174 RCV002524370

NM_001278716.2(FBXL4):c.714T>G (p.Thr238=)

SNV
Germline

Chr6:98917518

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933634

rs_776419278

3 SubmittersRCV000500156 RCV002056890

NM_001278716.2(FBXL4):c.702T>C (p.Leu234=)

SNV
Germline

Chr6:98917530

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16020677

rs_1554221171

3 SubmittersRCV000504466 RCV001559548

NM_001278716.2(FBXL4):c.666A>C (p.Ala222=)

SNV
Germline

Chr6:98917566

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933642

rs_781455701

2 SubmittersRCV000503462 RCV002527316

NM_001278716.2(FBXL4):c.662A>T (p.Asp221Val)

SNV
Germline

Chr6:98917570

Likely pathogenic

Mitochondrial DNA depletion syndrome 13

Criteria Provided
Single Submitter

CA16021016

rs_1554221189

1 SubmittersRCV000501080

NM_001278716.2(FBXL4):c.661G>C (p.Asp221His)

SNV
Germline

Chr6:98917571

Likely pathogenic

Mitochondrial DNA depletion syndrome 13

Criteria Provided
Single Submitter

CA16021015

rs_1554221191

1 SubmittersRCV000499569

NM_001278716.2(FBXL4):c.616C>T (p.Arg206Ter)

SNV
Germline

Chr6:98917616

Pathogenic/Likely pathogenic

Mitochondrial DNA depletion syndrome 13
Inborn genetic diseases
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16021028

rs_964532159

6 SubmittersRCV000499561 RCV005338208 RCV005648010

NM_001278716.2(FBXL4):c.614T>C (p.Ile205Thr)

SNV
Germline

Chr6:98917618

Likely pathogenic

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16021014

rs_1350566881

2 SubmittersRCV000502664 RCV004719842

NM_001278716.2(FBXL4):c.541A>G (p.Thr181Ala)

SNV
Germline

Chr6:98917691

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933660

rs_150748757

3 SubmittersRCV000503771 RCV001731732

NM_001278716.2(FBXL4):c.540T>G (p.Pro180=)

SNV
Germline

Chr6:98917692

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933661

rs_760238524

2 SubmittersRCV000502306 RCV000961148

NM_001278716.2(FBXL4):c.513-1G>A

SNV
Germline

Chr6:98917720

Pathogenic

Mitochondrial DNA depletion syndrome 13

Criteria Provided
Single Submitter

CA16021030

rs_1554221258

1 SubmittersRCV000504007

NM_001278716.2(FBXL4):c.513-13C>G

SNV
Germline

Chr6:98917732

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933666

rs_200592647

2 SubmittersRCV000503390 RCV002524366

NM_001278716.2(FBXL4):c.445G>A (p.Gly149Arg)

SNV
Germline

Chr6:98926544

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
not specified

Criteria Provided
Conflicting Classifications

CA16021013

rs_1345325140

2 SubmittersRCV000501207 RCV006263998

NM_001278716.2(FBXL4):c.370C>T (p.Gln124Ter)

SNV
Germline

Chr6:98926619

Pathogenic/Likely pathogenic

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA3933702

rs_761974928

2 SubmittersRCV000502768 RCV006556124

NM_001278716.2(FBXL4):c.316C>T (p.Gln106Ter)

SNV
Germline

Chr6:98926673

Pathogenic

Mitochondrial DNA depletion syndrome 13

Criteria Provided
Multiple Submitters
No Conflicts

CA16021027

rs_1554222122

3 SubmittersRCV000503270

NM_001278716.2(FBXL4):c.300T>C (p.Tyr100=)

SNV
Germline

Chr6:98926689

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided
FBXL4-related disorder

Criteria Provided
Conflicting Classifications

CA3933710

rs_573472397

3 SubmittersRCV000502389 RCV002524360 RCV003900057

NM_001278716.2(FBXL4):c.292C>T (p.Arg98Ter)

SNV
Germline

Chr6:98926697

Pathogenic/Likely pathogenic

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16021026

rs_1554222130

9 SubmittersRCV000501775 RCV001280758

NM_001278716.2(FBXL4):c.252A>G (p.Val84=)

SNV
Germline

Chr6:98926737

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933713

rs_756896976

2 SubmittersRCV000503979 RCV005056092

NM_001278716.2(FBXL4):c.249T>C (p.Asn83=)

SNV
Germline

Chr6:98926740

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933714

rs_372346466

2 SubmittersRCV000500438 RCV003766862

NM_001278716.2(FBXL4):c.219T>C (p.Tyr73=)

SNV
Germline

Chr6:98926770

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933718

rs_747536886

3 SubmittersRCV000500539 RCV002524359

NM_001278716.2(FBXL4):c.219T>A (p.Tyr73Ter)

SNV
Germline

Chr6:98926770

Pathogenic

Mitochondrial DNA depletion syndrome 13

Criteria Provided
Multiple Submitters
No Conflicts

CA16021025

rs_747536886

3 SubmittersRCV000499646

NM_001278716.2(FBXL4):c.135C>T (p.Ser45=)

SNV
Germline

Chr6:98926854

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933729

rs_764057679

2 SubmittersRCV000502693 RCV002060156

NM_001278716.2(FBXL4):c.125G>A (p.Ser42Asn)

SNV
Germline

Chr6:98926864

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3933733

rs_750080180

2 SubmittersRCV000500084 RCV005338209

NM_001278716.2(FBXL4):c.106A>T (p.Arg36Ter)

SNV
Germline

Chr6:98926883

Pathogenic

Mitochondrial DNA depletion syndrome 13
Inborn genetic diseases
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16021024

rs_1182326570

3 SubmittersRCV000502743 RCV000622677 RCV001865630

NM_001278716.2(FBXL4):c.104A>G (p.His35Arg)

SNV
Germline

Chr6:98926885

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933738

rs_201901274

2 SubmittersRCV000502463 RCV003766861

NM_001278716.2(FBXL4):c.79A>G (p.Thr27Ala)

SNV
Germline

Chr6:98926910

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3933743

rs_142853738

4 SubmittersRCV000499838 RCV000908721 RCV002527314

NM_001278716.2(FBXL4):c.78T>C (p.Ala26=)

SNV
Germline

Chr6:98926911

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933744

rs_774610091

3 SubmittersRCV000503535 RCV002524357

NM_001278716.2(FBXL4):c.65G>A (p.Arg22Gln)

SNV
Germline

Chr6:98926924

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933746

rs_147696366

3 SubmittersRCV000499943 RCV002060155

NM_001278716.2(FBXL4):c.48T>C (p.Tyr16=)

SNV
Germline

Chr6:98926941

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
FBXL4-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933755

rs_748705687

3 SubmittersRCV000502606 RCV003900056 RCV002524355

NM_001278716.2(FBXL4):c.36C>G (p.Thr12=)

SNV
Germline

Chr6:98926953

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933758

rs_749635212

2 SubmittersRCV000502127 RCV000885031

NM_001278716.2(FBXL4):c.9G>A (p.Pro3=)

SNV
Germline

Chr6:98926980

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3933768

rs_773041308

3 SubmittersRCV000503341 RCV000676939

NM_001953.5(TYMP):c.628A>C (p.Ser210Arg)

SNV
Germline

Chr22:50527606

Pathogenic

Mitochondrial DNA depletion syndrome 1

Criteria Provided
Single Submitter

CA10321685

rs_761665644

1 SubmittersRCV000508974

NM_052865.4(MGME1):c.532C>T (p.Arg178Trp)

SNV
Germline

Chr20:17975704

Conflicting classifications of pathogenicity

Condition: not provided
Mitochondrial DNA depletion syndrome 11
not specified

Criteria Provided
Conflicting Classifications

CA9774969

rs_143417446

6 SubmittersRCV000513784 RCV000709839 RCV006438163

NM_012140.5(SLC25A10):c.304A>T (p.Lys102Ter)

SNV
Germline

Chr17:81715568

Likely pathogenic

Mitochondrial complex I deficiency
Mitochondrial DNA depletion syndrome 19

Criteria Provided
Multiple Submitters
No Conflicts

CA401517376

rs_1555703272

3 SubmittersRCV000516166 RCV001251077

NM_130837.3(OPA1):c.85C>G (p.Pro29Ala)

SNV
Germline

Chr3:193614775

Conflicting classifications of pathogenicity

Condition: not provided
Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)
not specified
Inborn genetic diseases
OPA1-related disorder

Criteria Provided
Conflicting Classifications

CA2758932

rs_145565705

7 SubmittersRCV000594159 RCV001335766 RCV001662637 RCV002530950 RCV004737850

NM_002437.5(MPV17):c.31C>T (p.Leu11=)

SNV
Germline

Chr2:27322487

Conflicting classifications of pathogenicity

Condition: not provided
Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)
MPV17-related disorder

Criteria Provided
Conflicting Classifications

CA1575724

rs_540291444

4 SubmittersRCV000595516 RCV003227495 RCV004543330

NM_001953.5(TYMP):c.517-15G>A

SNV
Germline

Chr22:50527732

Conflicting classifications of pathogenicity

not specified
Mitochondrial DNA depletion syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10321706

rs_372690172

3 SubmittersRCV000606871 RCV001145862 RCV002065305

NM_002437.5(MPV17):c.122G>A (p.Arg41Gln)

SNV
Germline

Chr2:27313058

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease, axonal, type 2EE
Condition: not provided
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
Mitochondrial DNA depletion syndrome
Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)
MPV17-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA1575667

rs_140992482

15 SubmittersRCV000768421 RCV000792530 RCV002279731 RCV003226382 RCV003227501 RCV004733041

NM_001953.5(TYMP):c.929-1G>A

SNV
Germline

Chr22:50526477

Pathogenic/Likely pathogenic

Mitochondrial DNA depletion syndrome 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA412198435

rs_1180285291

2 SubmittersRCV000779376 RCV003768446

NM_001151.4(SLC25A4):c.238C>G (p.Arg80Gly)

SNV
Germline

Chr4:185144890

Likely pathogenic

Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant

Criteria Provided
Single Submitter

CA358896187

rs_1560841701

1 SubmittersRCV000785891

NM_013393.3(MRM2):c.565G>A (p.Gly189Arg)

SNV
Germline

Chr7:2235298

Pathogenic

Mitochondrial DNA depletion syndrome 17

No Assertion Criteria Provided

CA366598562

rs_1584622847

1 SubmittersRCV000850108

NM_001953.5(TYMP):c.1001T>G (p.Leu334Arg)

SNV
Germline

Chr22:50526404

Likely pathogenic

Mitochondrial DNA depletion syndrome 1

Criteria Provided
Single Submitter

CA412198033

rs_1251044974

1 SubmittersRCV000855774

NM_002437.5(MPV17):c.390C>G (p.Ala130=)

SNV
Germline

Chr2:27312232

Conflicting classifications of pathogenicity

Condition: not provided
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)

Criteria Provided
Conflicting Classifications

CA1575538

rs_760281019

3 SubmittersRCV000877399 RCV001142395 RCV003227504

NM_052865.4(MGME1):c.242C>G (p.Pro81Arg)

SNV
Germline

Chr20:17970101

Conflicting classifications of pathogenicity

Condition: not provided
Mitochondrial DNA depletion syndrome 11

Criteria Provided
Conflicting Classifications

CA9774900

rs_150656271

3 SubmittersRCV000883567 RCV002487937

NM_001953.5(TYMP):c.194G>A (p.Ser65Asn)

SNV
Germline

Chr22:50529516

Conflicting classifications of pathogenicity

Condition: not provided
Mitochondrial neurogastrointestinal encephalomyopathy
Mitochondrial DNA depletion syndrome 1

Criteria Provided
Conflicting Classifications

CA10321859

rs_570047465

4 SubmittersRCV000944682 RCV001276281 RCV005392571

NM_001278716.2(FBXL4):c.1673G>A (p.Cys558Tyr)

SNV
Germline

Chr6:98875444

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA143896347

rs_995995791

2 SubmittersRCV000987754 RCV002549686

NM_001278716.2(FBXL4):c.622G>T (p.Glu208Ter)

SNV
Unknown

Chr6:98917610

Pathogenic

Mitochondrial DNA depletion syndrome 13

Criteria Provided
Single Submitter

CA365084234

rs_1582425406

1 SubmittersRCV000987755

NM_030631.4(SLC25A21):c.695A>G (p.Lys232Arg)

SNV
Germline

Chr14:36684834

Pathogenic

Mitochondrial DNA depletion syndrome 18

No Assertion Criteria Provided

CA389465307

rs_1389068504

1 SubmittersRCV001027733

NM_001953.5(TYMP):c.1048C>T (p.Gln350Ter)

SNV
Germline

Chr22:50526357

Pathogenic/Likely pathogenic

Mitochondrial DNA depletion syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA412197788

rs_765023287

3 SubmittersRCV001027995

NM_001953.5(TYMP):c.646+1G>A

SNV
Germline

Chr22:50527587

Pathogenic/Likely pathogenic

Condition: not provided
Mitochondrial DNA depletion syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10321682

rs_760629248

3 SubmittersRCV001047337 RCV003467749

NM_001953.5(TYMP):c.945G>A (p.Trp315Ter)

SNV
Germline

Chr22:50526460

Pathogenic/Likely pathogenic

Condition: not provided
Mitochondrial DNA depletion syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA412198304

rs_1052593047

4 SubmittersRCV001090365 RCV003469279

NM_001953.5(TYMP):c.193A>G (p.Ser65Gly)

SNV
Germline

Chr22:50529517

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10321860

rs_146922557

3 SubmittersRCV001148634 RCV001475082

NM_001953.5(TYMP):c.520C>T (p.Gln174Ter)

SNV
Germline

Chr22:50527714

Pathogenic/Likely pathogenic

Mitochondrial DNA depletion syndrome 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA412201519

rs_2069446068

2 SubmittersRCV003462796 RCV001234540

NM_001953.5(TYMP):c.417+1G>A

SNV
Germline

Chr22:50529135

Pathogenic

Mitochondrial DNA depletion syndrome 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA412201901

rs_1603442040

3 SubmittersRCV003462808 RCV001238376

NM_001278716.2(FBXL4):c.1252G>C (p.Ala418Pro)

SNV
Germline

Chr6:98899333

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA16021275

rs_542852839

3 SubmittersRCV001254155 RCV003236884 RCV003987816

NM_001953.5(TYMP):c.1159+1G>A

SNV
Germline

Chr22:50526245

Pathogenic

Inborn genetic diseases
Condition: not provided
Mitochondrial DNA depletion syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA325560602

rs_1044840059

4 SubmittersRCV001266752 RCV001880125 RCV004570658

NM_001278716.2(FBXL4):c.1389+11G>A

SNV
Germline

Chr6:98880542

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16021093

rs_1770815162

2 SubmittersRCV001334682 RCV002547329

NM_001278716.2(FBXL4):c.299A>G (p.Tyr100Cys)

SNV
Germline

Chr6:98926690

Likely pathogenic

Mitochondrial DNA depletion syndrome 13

Criteria Provided
Single Submitter

CA365089807

rs_2128405537

1 SubmittersRCV001449961

NM_001278716.2(FBXL4):c.486T>A (p.Tyr162Ter)

SNV
Germline

Chr6:98926503

Pathogenic/Likely pathogenic

Condition: not provided
Mitochondrial DNA depletion syndrome 13

Criteria Provided
Multiple Submitters
No Conflicts

CA365088378

rs_1562245046

3 SubmittersRCV001545084 RCV002471120

NM_001953.5(TYMP):c.809T>C (p.Leu270Pro)

SNV
Germline

Chr22:50526695

Likely pathogenic

Mitochondrial DNA depletion syndrome 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA412199381

rs_1178421926

2 SubmittersRCV001783996 RCV002034609

NM_007215.4(POLG2):c.775C>T (p.Arg259Ter)

SNV
Germline

Chr17:64492687

Conflicting classifications of pathogenicity

Condition: not provided
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
Mitochondrial DNA depletion syndrome 16 (hepatic type)

Criteria Provided
Conflicting Classifications

CA8712924

rs_782006396

4 SubmittersRCV003560869 RCV001839326

NM_001953.5(TYMP):c.214+1G>T

SNV
Germline

Chr22:50529495

Likely pathogenic

Condition: not provided
Mitochondrial DNA depletion syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA412202426

rs_1200609783

2 SubmittersRCV002040737 RCV002498041

NM_001953.5(TYMP):c.235C>T (p.Arg79Ter)

SNV
Germline

Chr22:50529318

Pathogenic/Likely pathogenic

Condition: not provided
Mitochondrial DNA depletion syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA412202321

rs_2069504242

5 SubmittersRCV001950980 RCV003147714

NM_001953.5(TYMP):c.647-1G>A

SNV
Germline

Chr22:50527284

Pathogenic/Likely pathogenic

Condition: not provided
Mitochondrial DNA depletion syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA412200953

rs_1295236603

2 SubmittersRCV002003360 RCV004571893

NM_030631.4(SLC25A21):c.532C>T (p.Arg178Ter)

SNV
Germline

Chr14:36711389

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 18
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7159264

rs_200963388

2 SubmittersRCV002250844 RCV006470299

NM_001278716.2(FBXL4):c.1350T>G (p.Cys450Trp)

SNV
Germline

Chr6:98880592

Likely pathogenic

Mitochondrial DNA depletion syndrome 13

Criteria Provided
Single Submitter

CA365089464

rs_2128378917

1 SubmittersRCV002267200

NM_001953.5(TYMP):c.323G>A (p.Trp108Ter)

SNV
Germline

Chr22:50529230

Pathogenic/Likely pathogenic

Mitochondrial DNA depletion syndrome 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA412202089

rs_2522546758

3 SubmittersRCV002468811 RCV002573597

NM_001953.5(TYMP):c.1040T>C (p.Leu347Pro)

SNV
Germline

Chr22:50526365

Pathogenic/Likely pathogenic

Condition: not provided
Mitochondrial DNA depletion syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA412197822

rs_2522513131

3 SubmittersRCV003050585 RCV003147815

NM_001953.5(TYMP):c.739C>T (p.Gln247Ter)

SNV
Germline

Chr22:50527191

Pathogenic/Likely pathogenic

Condition: not provided
Mitochondrial DNA depletion syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA325561956

rs_767575537

2 SubmittersRCV002726776 RCV004571218

NM_003201.3(TFAM):c.291+9A>G

SNV
Germline

Chr10:58388269

Conflicting classifications of pathogenicity

Condition: not provided
Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)
TFAM-related disorder
Clear cell carcinoma of kidney

Criteria Provided
Conflicting Classifications

CA5507922

rs_201846997

4 SubmittersRCV002913338 RCV003147796 RCV003973521 RCV005926361

NM_001953.5(TYMP):c.298C>T (p.Gln100Ter)

SNV
Germline

Chr22:50529255

Pathogenic/Likely pathogenic

Mitochondrial DNA depletion syndrome 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA412202146

rs_2522546966

2 SubmittersRCV003466484 RCV005100240

NM_001953.5(TYMP):c.1085C>A (p.Ser362Ter)

SNV
Unknown

Chr22:50526320

Likely pathogenic

Mitochondrial DNA depletion syndrome 1

Criteria Provided
Single Submitter

CA412197604

rs_1603441843

1 SubmittersRCV003464756

NM_001953.5(TYMP):c.535C>T (p.Gln179Ter)

SNV
Unknown

Chr22:50527699

Likely pathogenic

Mitochondrial DNA depletion syndrome 1

Criteria Provided
Single Submitter

CA412201462

rs_2069445752

1 SubmittersRCV003464757

NM_001953.5(TYMP):c.214+1G>C

SNV
Unknown

Chr22:50529495

Likely pathogenic

Mitochondrial DNA depletion syndrome 1
Thyroid cancer, nonmedullary, 1

Criteria Provided
Single Submitter

CA412202427

rs_1200609783

2 SubmittersRCV003466486 RCV005927726

NM_001953.5(TYMP):c.418-1G>A

SNV
Germline

Chr22:50528611

Likely pathogenic

Mitochondrial DNA depletion syndrome 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA412201891

rs_2522539725

3 SubmittersRCV003466487 RCV003661064

NM_001953.5(TYMP):c.417+2T>G

SNV
Unknown

Chr22:50529134

Likely pathogenic

Mitochondrial DNA depletion syndrome 1

Criteria Provided
Single Submitter

CA412201898

rs_1603442039

1 SubmittersRCV003464760

NM_001953.5(TYMP):c.391C>T (p.Pro131Ser)

SNV
Germline

Chr22:50529162

Likely pathogenic

Mitochondrial DNA depletion syndrome 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA412201951

rs_863224255

2 SubmittersRCV005030241 RCV003731120

NM_001953.5(TYMP):c.432C>T (p.Ser144=)

SNV
Germline

Chr22:50528596

Conflicting classifications of pathogenicity

Condition: not provided
Mitochondrial DNA depletion syndrome 1

Criteria Provided
Conflicting Classifications

CA515274959

rs_751803871

2 SubmittersRCV003832165 RCV005392714

NM_013393.3(MRM2):c.8+1G>T

SNV
Germline

Chr7:2242161

Pathogenic

Mitochondrial DNA depletion syndrome 17

No Assertion Criteria Provided

CA4124169

rs_749074594

1 SubmittersRCV003890776

NM_001278716.2(FBXL4):c.197G>A (p.Gly66Glu)

SNV
Germline

Chr6:98926792

Likely pathogenic

Mitochondrial DNA depletion syndrome 13

Criteria Provided
Single Submitter

CA365090808

rs_2535146567

1 SubmittersRCV003983757

NM_001953.5(TYMP):c.765+2T>C

SNV
Unknown

Chr22:50527163

Likely pathogenic

Mitochondrial DNA depletion syndrome 1

Criteria Provided
Single Submitter

rs_2522525264

1 SubmittersRCV004573801

NM_001953.5(TYMP):c.748G>T (p.Glu250Ter)

SNV
Unknown

Chr22:50527182

Likely pathogenic

Mitochondrial DNA depletion syndrome 1

Criteria Provided
Single Submitter

rs_1250541303

1 SubmittersRCV004573802

NM_001953.5(TYMP):c.736G>T (p.Glu246Ter)

SNV
Unknown

Chr22:50527194

Likely pathogenic

Mitochondrial DNA depletion syndrome 1

Criteria Provided
Single Submitter

rs_567858165

1 SubmittersRCV004573803

NM_001953.5(TYMP):c.454G>T (p.Gly152Ter)

SNV
Germline

Chr22:50528574

Likely pathogenic

Mitochondrial DNA depletion syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV004720694

NM_001278716.2(FBXL4):c.517G>T (p.Glu173Ter)

SNV
Germline

Chr6:98917715

Pathogenic

Mitochondrial DNA depletion syndrome 13

Criteria Provided
Single Submitter

1 SubmittersRCV004765476

NM_001953.5(TYMP):c.1447T>C (p.Ter483Gln)

SNV
Germline

Chr22:50525772

Likely pathogenic

Mitochondrial DNA depletion syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV005034857

NM_001953.5(TYMP):c.765+1G>C

SNV
Germline

Chr22:50527164

Likely pathogenic

Mitochondrial DNA depletion syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV005034858

NM_001953.5(TYMP):c.214+2T>C

SNV
Germline

Chr22:50529494

Likely pathogenic

Mitochondrial DNA depletion syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV005030929

NM_001151.4(SLC25A4):c.423G>C (p.Leu141Phe)

SNV
Germline

Chr4:185145075

Likely pathogenic

Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive

Criteria Provided
Single Submitter

1 SubmittersRCV005233192

NM_001278716.2(FBXL4):c.301G>A (p.Gly101Arg)

SNV
Germline

Chr6:98926688

Likely pathogenic

Mitochondrial DNA depletion syndrome 13

Criteria Provided
Single Submitter

1 SubmittersRCV005233230

NM_001278716.2(FBXL4):c.605C>G (p.Thr202Arg)

SNV
Germline

Chr6:98917627

Likely pathogenic

Mitochondrial DNA depletion syndrome 13

Criteria Provided
Single Submitter

1 SubmittersRCV005233235

NM_007215.4(POLG2):c.1192-1G>A

SNV
Germline

Chr17:64480390

Likely pathogenic

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
Mitochondrial DNA depletion syndrome 16 (hepatic type)
Mitochondrial dna depletion syndrome 16B (neuroophthalmic type)

Criteria Provided
Single Submitter

1 SubmittersRCV005356689

NM_012140.5(SLC25A10):c.329-2A>T

SNV
Germline

Chr17:81715691

Likely pathogenic

Mitochondrial DNA depletion syndrome 19

Criteria Provided
Single Submitter

1 SubmittersRCV005356796

NM_001953.5(TYMP):c.342C>G (p.Asp114Glu)

SNV
Germline

Chr22:50529211