Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_018648.4(NOP10):c.100C>T (p.Arg34Trp)	SNV Germline	Chr15:34342063	Pathogenic	Dyskeratosis congenita, autosomal recessive 1	No Assertion Criteria Provided	CA020161	rs_121908092	2 SubmittersRCV000004500
NM_017838.4(NHP2):c.415T>C (p.Tyr139His)	SNV Germline	Chr5:178149760	Pathogenic	Dyskeratosis congenita, autosomal recessive 2 Dyskeratosis congenita, autosomal recessive 1	No Assertion Criteria Provided	CA016069	rs_121908089	2 SubmittersRCV000004501 RCV000032277
NM_017838.4(NHP2):c.376G>A (p.Val126Met)	SNV Unknown	Chr5:178149799	Pathogenic	Dyskeratosis congenita, autosomal recessive 2 Dyskeratosis congenita, autosomal recessive 1	No Assertion Criteria Provided	CA016060	rs_121908090	2 SubmittersRCV000004502 RCV000032276
NM_017838.4(NHP2):c.460T>A (p.Ter154Arg)	SNV Germline	Chr5:178149715	Pathogenic	Dyskeratosis congenita, autosomal recessive 2 Dyskeratosis congenita, autosomal recessive 1 Condition: not provided	Criteria Provided Single Submitter	CA016078	rs_121908091	3 SubmittersRCV000004503 RCV000032278 RCV001092140
NM_001099274.3(TINF2):c.838A>G (p.Lys280Glu)	SNV Germline	Chr14:24240642	Pathogenic	Dyskeratosis congenita, autosomal dominant 3 Dyskeratosis congenita, autosomal dominant 1 Condition: not provided	Criteria Provided Single Submitter	CA117650	rs_121918543	3 SubmittersRCV000005977 RCV000032165 RCV003441705
NM_001099274.3(TINF2):c.845G>A (p.Arg282His)	SNV Germline	Chr14:24240635	Pathogenic	Dyskeratosis congenita, autosomal dominant 3 Revesz syndrome Condition: not provided Dyskeratosis congenita, autosomal dominant 3 Revesz syndrome Dyskeratosis congenita, autosomal dominant 1 Dyskeratosis congenita	Criteria Provided Multiple Submitters No Conflicts	CA117651	rs_121918544	8 SubmittersRCV000005978 RCV000005979 RCV001509450 RCV002490324 RCV001382425
NM_001099274.3(TINF2):c.844C>A (p.Arg282Ser)	SNV Germline	Chr14:24240636	Pathogenic	Dyskeratosis congenita, autosomal dominant 3 Dyskeratosis congenita, autosomal dominant 1 Dyskeratosis congenita	Criteria Provided Single Submitter	CA117652	rs_121918545	3 SubmittersRCV000005980 RCV000032168 RCV001382426
NM_001099274.3(TINF2):c.844C>T (p.Arg282Cys)	SNV Germline	Chr14:24240636	Pathogenic	Dyskeratosis congenita, autosomal dominant 3 Dyskeratosis congenita, autosomal dominant 1 Condition: not provided Dyskeratosis congenita	Criteria Provided Multiple Submitters No Conflicts	CA117653	rs_121918545	7 SubmittersRCV000005981 RCV000032169 RCV000434257 RCV001054196
NR_001566.2(TERC):n.408C>G	SNV Unknown	Chr3:169764653	Pathogenic	Dyskeratosis congenita, autosomal dominant 1	No Assertion Criteria Provided	CA340671	rs_199422284	2 SubmittersRCV000007744
NR_001566.2(TERC):n.204C>G	SNV Germline	Chr3:169764857	Pathogenic	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 Dyskeratosis congenita, autosomal dominant 1	No Assertion Criteria Provided	CA118712	rs_199422277	2 SubmittersRCV000007746 RCV000032564
NR_001566.2(TERC):n.116C>T	SNV Germline	Chr3:169764945	Conflicting classifications of pathogenicity	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 Dyskeratosis congenita, autosomal dominant 1 Condition: not provided Pulmonary fibrosis	Criteria Provided Conflicting Classifications	CA118716	rs_199422272	5 SubmittersRCV000007750 RCV000032559 RCV001818142 RCV002509148
NM_001363.5(DKC1):c.106T>G (p.Phe36Val)	SNV Germline	ChrX:154765465	Pathogenic	Dyskeratosis congenita, X-linked	No Assertion Criteria Provided	CA341107	rs_121912293	3 SubmittersRCV000012338
NM_001363.5(DKC1):c.119C>G (p.Pro40Arg)	SNV Germline	ChrX:154765478	Pathogenic	Dyskeratosis congenita, X-linked	No Assertion Criteria Provided	CA341112	rs_121912292	3 SubmittersRCV000012340
NM_001363.5(DKC1):c.1205G>A (p.Gly402Glu)	SNV Germline	ChrX:154774651	Pathogenic	Dyskeratosis congenita, X-linked	No Assertion Criteria Provided	CA341114	rs_121912295	3 SubmittersRCV000012342
NM_001363.5(DKC1):c.1058C>T (p.Ala353Val)	SNV Germline	ChrX:154773152	Pathogenic	Dyskeratosis congenita, X-linked Dyskeratosis congenita	Criteria Provided Multiple Submitters No Conflicts	CA341116	rs_121912288	5 SubmittersRCV000012343 RCV000464438
NM_001363.5(DKC1):c.16+592C>G	SNV Germline	ChrX:154763573	Pathogenic	Dyskeratosis congenita, X-linked	No Assertion Criteria Provided		rs_1603429348	1 SubmittersRCV000012347
NM_001363.5(DKC1):c.146C>T (p.Thr49Met)	SNV Germline	ChrX:154765505	Pathogenic	Dyskeratosis congenita, X-linked Condition: not provided Dyskeratosis congenita	Criteria Provided Multiple Submitters No Conflicts	CA156187	rs_121912304	5 SubmittersRCV000012349 RCV000254868 RCV000816060
NM_001363.5(DKC1):c.361A>G (p.Ser121Gly)	SNV Germline	ChrX:154766313	Conflicting classifications of pathogenicity	Hoyeraal-Hreidarsson syndrome Dyskeratosis congenita, X-linked Condition: not provided Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA264767	rs_121912305	5 SubmittersRCV000012350 RCV000055630 RCV000479038 RCV001857333
NM_001363.5(DKC1):c.113T>C (p.Ile38Thr)	SNV Germline	ChrX:154765472	Pathogenic	Hoyeraal-Hreidarsson syndrome Dyskeratosis congenita, X-linked	No Assertion Criteria Provided	CA264769	rs_28936072	3 SubmittersRCV000012351 RCV000055631
NM_001363.5(DKC1):c.91C>A (p.Gln31Lys)	SNV Germline	ChrX:154765450	Pathogenic	Dyskeratosis congenita, X-linked	No Assertion Criteria Provided	CA341118	rs_137854491	2 SubmittersRCV000012352
NM_001363.5(DKC1):c.1259+1G>A	SNV Germline	ChrX:154774706	Pathogenic	Dyskeratosis congenita, X-linked	No Assertion Criteria Provided		rs_1569558616	1 SubmittersRCV000012354
NM_198253.3(TERT):c.604G>A (p.Ala202Thr)	SNV Germline	Chr5:1294282	Conflicting classifications of pathogenicity	Aplastic anemia Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 not specified Dyskeratosis congenita, autosomal dominant 2 Condition: not provided Dyskeratosis congenita TERT-related disorder Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications	CA122653	rs_121918661	21 SubmittersRCV000032398 RCV000013566 RCV000604322 RCV000758251 RCV000489117 RCV002255997 RCV004541000 RCV002513013
NM_198253.3(TERT):c.1234C>T (p.His412Tyr)	SNV Germline	Chr5:1293652	Conflicting classifications of pathogenicity	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Aplastic anemia Autosomal recessive dyskeratosis congenita 4 not specified Dyskeratosis congenita, autosomal dominant 2 Condition: not provided Dyskeratosis congenita Melanoma, cutaneous malignant, susceptibility to, 9 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Acute myeloid leukemia Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications	CA122655	rs_34094720	14 SubmittersRCV000013567 RCV000032365 RCV000190902 RCV000218461 RCV000262966 RCV000425346 RCV002255259 RCV003224095 RCV002513014
NM_198253.3(TERT):c.2080G>A (p.Val694Met)	SNV Germline	Chr5:1279341	Conflicting classifications of pathogenicity	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Aplastic anemia Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 TERT-related disorder Dyskeratosis congenita Pulmonary fibrosis Condition: not provided	Criteria Provided Conflicting Classifications	CA122657	rs_121918662	7 SubmittersRCV000013568 RCV000032373 RCV002513015 RCV004532332 RCV004558246 RCV002509152 RCV003441715
NM_198253.3(TERT):c.2706G>C (p.Lys902Asn)	SNV Germline	Chr5:1264541	Pathogenic	Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita, autosomal dominant 1	No Assertion Criteria Provided	CA122663	rs_121918665	2 SubmittersRCV000013572 RCV000032389
NM_198253.3(TERT):c.2594G>A (p.Arg865His)	SNV Germline	Chr5:1266524	Pathogenic/Likely pathogenic	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Interstitial lung disease 2 Condition: not provided Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita, autosomal dominant 2 Pulmonary fibrosis	Criteria Provided Multiple Submitters No Conflicts	CA122665	rs_121918666	7 SubmittersRCV000013573 RCV000032385 RCV000412959 RCV002513016 RCV003460466 RCV002509153
NM_198253.3(TERT):c.219+1G>A	SNV Germline	Chr5:1294770	Likely pathogenic	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Interstitial lung disease 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Single Submitter	CA122668	rs_199422309	3 SubmittersRCV000013575 RCV000032380 RCV002513017
NM_198253.3(TERT):c.1892G>A (p.Arg631Gln)	SNV Germline	Chr5:1280216	Pathogenic	Dyskeratosis congenita, autosomal dominant 2 Interstitial lung disease 2 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Condition: not provided Telomere syndrome Pulmonary fibrosis Dyskeratosis congenita	Criteria Provided Multiple Submitters No Conflicts	CA128724	rs_199422294	9 SubmittersRCV000022783 RCV000032370 RCV000677344 RCV002513175 RCV003150932 RCV003325404 RCV002509167 RCV004558270
NM_198253.3(TERT):c.2431C>T (p.Arg811Cys)	SNV Germline	Chr5:1271156	Conflicting classifications of pathogenicity	Autosomal recessive dyskeratosis congenita 4 Dyskeratosis congenita, autosomal recessive 1 Condition: not provided Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Conflicting Classifications	CA128727	rs_199422301	5 SubmittersRCV000022784 RCV000032383 RCV001797047 RCV002051796 RCV002513176
NM_198253.3(TERT):c.2701C>T (p.Arg901Trp)	SNV Germline	Chr5:1264546	Conflicting classifications of pathogenicity	Autosomal recessive dyskeratosis congenita 4 Dyskeratosis congenita, autosomal recessive 1 Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA128729	rs_199422304	4 SubmittersRCV000022785 RCV000032388 RCV003764630 RCV004558271
NM_001143992.2(WRAP53):c.1192C>T (p.Arg398Trp)	SNV Germline	Chr17:7702770	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal recessive 3 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA342768	rs_281865548	5 SubmittersRCV000023966 RCV001269522 RCV003445082
NM_001143992.2(WRAP53):c.1126C>T (p.His376Tyr)	SNV Germline	Chr17:7702514	Pathogenic	Dyskeratosis congenita, autosomal recessive 3	No Assertion Criteria Provided	CA342771	rs_281865549	2 SubmittersRCV000023967
NM_025099.6(CTC1):c.2959C>T (p.Arg987Trp)	SNV Germline	Chr17:8229943	Pathogenic	Cerebroretinal microangiopathy with calcifications and cysts 1 Dyskeratosis congenita Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA129608	rs_202138550	4 SubmittersRCV000023987 RCV000533706 RCV001268611
NM_025099.6(CTC1):c.775G>A (p.Val259Met)	SNV Germline	Chr17:8237392	Pathogenic/Likely pathogenic	Cerebroretinal microangiopathy with calcifications and cysts 1 Dyskeratosis congenita Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA129610	rs_387907080	7 SubmittersRCV000023989 RCV000798102 RCV001577148
NM_025099.6(CTC1):c.2518C>T (p.Arg840Trp)	SNV Germline	Chr17:8231427	Conflicting classifications of pathogenicity	Cerebroretinal microangiopathy with calcifications and cysts 1 Dyskeratosis congenita Condition: not provided	Criteria Provided Conflicting Classifications	CA129611	rs_373905859	4 SubmittersRCV000023990 RCV001051564 RCV001551084
NM_025099.6(CTC1):c.3583C>T (p.Arg1195Ter)	SNV Germline	Chr17:8228251	Likely pathogenic	Cerebroretinal microangiopathy with calcifications and cysts 1 Dyskeratosis congenita	Criteria Provided Single Submitter	CA129615	rs_199473682	2 SubmittersRCV000023994 RCV003645857
NM_025099.6(CTC1):c.680C>T (p.Ala227Val)	SNV Germline	Chr17:8237487	Pathogenic	Cerebroretinal microangiopathy with calcifications and cysts 1 Dyskeratosis congenita	Criteria Provided Single Submitter	CA129617	rs_199473673	2 SubmittersRCV000023995 RCV002513215
NM_001099274.3(TINF2):c.805C>T (p.Gln269Ter)	SNV Germline	Chr14:24240675	Pathogenic	Dyskeratosis congenita, autosomal dominant 3	No Assertion Criteria Provided	CA129791	rs_387907153	1 SubmittersRCV000024248
NM_001099274.3(TINF2):c.811C>T (p.Gln271Ter)	SNV Germline	Chr14:24240669	Pathogenic	Dyskeratosis congenita, autosomal dominant 3	No Assertion Criteria Provided	CA129793	rs_387907154	1 SubmittersRCV000024250
NM_198253.3(TERT):c.2371G>A (p.Val791Ile)	SNV Germline	Chr5:1272196	Conflicting classifications of pathogenicity	Condition: not provided Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications	CA044696	rs_141425941	5 SubmittersRCV001549913 RCV002518376 RCV003992244 RCV003325196
NM_198253.3(TERT):c.2599G>A (p.Val867Met)	SNV Germline	Chr5:1266519	Pathogenic/Likely pathogenic	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Pulmonary fibrosis	Criteria Provided Multiple Submitters No Conflicts		rs_201159197	2 SubmittersRCV002518411 RCV002327153 RCV002509334
NM_198253.3(TERT):c.2146G>A (p.Ala716Thr)	SNV Germline	Chr5:1278781	Pathogenic/Likely pathogenic	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Multiple Submitters No Conflicts	CA129984	rs_387907249	5 SubmittersRCV000030629 RCV002513272 RCV003447479
NM_198253.3(TERT):c.2768C>T (p.Pro923Leu)	SNV Germline	Chr5:1264479	Conflicting classifications of pathogenicity	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Condition: not provided Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA129988	rs_387907251	5 SubmittersRCV000030631 RCV001753435 RCV002513273 RCV004558275
NM_001099274.3(TINF2):c.847C>T (p.Pro283Ser)	SNV Germline	Chr14:24240633	Pathogenic/Likely pathogenic	Dyskeratosis congenita, autosomal dominant 1 Condition: not provided TINF2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA343180	rs_199422311	3 SubmittersRCV000032171 RCV000428138 RCV003407386
NM_001099274.3(TINF2):c.850A>G (p.Thr284Ala)	SNV Germline	Chr14:24240630	Likely pathogenic	Dyskeratosis congenita, autosomal dominant 1 Dyskeratosis congenita	Criteria Provided Single Submitter	CA343185	rs_199422314	2 SubmittersRCV000032174 RCV002513292
NM_001099274.3(TINF2):c.860T>C (p.Leu287Pro)	SNV Germline	Chr14:24240620	Likely pathogenic	Dyskeratosis congenita, autosomal dominant 1 Condition: not provided Dyskeratosis congenita	Criteria Provided Multiple Submitters No Conflicts	CA343187	rs_199422316	3 SubmittersRCV000032175 RCV001818202 RCV001852639
NM_001363.5(DKC1):c.1156G>A (p.Ala386Thr)	SNV Germline	ChrX:154774602	Pathogenic	Dyskeratosis congenita, X-linked	Criteria Provided Single Submitter	CA343211	rs_199422252	3 SubmittersRCV000032187
NM_001363.5(DKC1):c.1223C>T (p.Thr408Ile)	SNV Germline	ChrX:154774669	Conflicting classifications of pathogenicity	Dyskeratosis congenita, X-linked Condition: not provided Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA343223	rs_199422254	4 SubmittersRCV000032192 RCV000255428 RCV001048156
NM_001363.5(DKC1):c.1226C>T (p.Pro409Leu)	SNV Germline	ChrX:154774672	Likely pathogenic	Dyskeratosis congenita, X-linked Dyskeratosis congenita	Criteria Provided Single Submitter	CA343226	rs_121912289	3 SubmittersRCV000032193 RCV004018696
NM_001363.4(DKC1):c.-142C>G	SNV Germline	ChrX:154762824	Conflicting classifications of pathogenicity	Dyskeratosis congenita, X-linked Condition: not provided not specified Dyskeratosis congenita DKC1-related disorder	Criteria Provided Conflicting Classifications	CA343231	rs_199422241	14 SubmittersRCV000032195 RCV000434441 RCV000503491 RCV001442049 RCV004018697
NM_001363.5(DKC1):c.196A>G (p.Thr66Ala)	SNV Germline	ChrX:154765931	Pathogenic/Likely pathogenic	Dyskeratosis congenita, X-linked Condition: not provided Dyskeratosis congenita	Criteria Provided Multiple Submitters No Conflicts	CA343234	rs_121912297	4 SubmittersRCV000032197 RCV001551970 RCV003529927
NM_001363.5(DKC1):c.5C>T (p.Ala2Val)	SNV Germline	ChrX:154762970	Conflicting classifications of pathogenicity	Dyskeratosis congenita, X-linked Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA343245	rs_121912303	4 SubmittersRCV000032202 RCV001852640
NM_198253.3(TERT):c.1456C>T (p.Arg486Cys)	SNV Germline	Chr5:1293430	Conflicting classifications of pathogenicity	Interstitial lung disease 2 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita Pulmonary fibrosis	Criteria Provided Conflicting Classifications	CA343424	rs_199422293	4 SubmittersRCV000032367 RCV002326716 RCV002514131 RCV004558276 RCV002509174
TERT:c.1710G>Y (p.Lys570Asn)	SNV Not provided	Chr5:1282488	Pathogenic	Dyskeratosis congenita, autosomal dominant 1	No Assertion Criteria Provided		rs_1554041299	1 SubmittersRCV000032369
NM_198253.3(TERT):c.2110C>T (p.Pro704Ser)	SNV Germline	Chr5:1279311	Pathogenic/Likely pathogenic	Autosomal recessive dyskeratosis congenita 4 Dyskeratosis congenita, autosomal dominant 1 Condition: not provided Dyskeratosis congenita, autosomal dominant 2 Pulmonary fibrosis Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Multiple Submitters No Conflicts	CA128731	rs_199422297	8 SubmittersRCV000022786 RCV000032375 RCV000520116 RCV003460537 RCV002509175 RCV003103717 RCV004558278
NM_198253.3(TERT):c.2147C>T (p.Ala716Val)	SNV Germline	Chr5:1278780	Pathogenic/Likely pathogenic	Aplastic anemia Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Condition: not provided Dyskeratosis congenita	Criteria Provided Multiple Submitters No Conflicts	CA343437	rs_199422298	6 SubmittersRCV000032376 RCV002514132 RCV001576802 RCV004558279
NM_198253.3(TERT):c.2177C>T (p.Thr726Met)	SNV Germline	Chr5:1278750	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 1 Interstitial lung disease 2 not specified Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Condition: not provided Dyskeratosis congenita, autosomal dominant 2 TERT-related disorder	Criteria Provided Conflicting Classifications	CA343442	rs_149566858	8 SubmittersRCV000032378 RCV000987499 RCV001818203 RCV002514133 RCV003137552 RCV003466884 RCV004532476
NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr)	SNV Germline	Chr5:1254479	Conflicting classifications of pathogenicity	Leukemia, acute myeloid, susceptibility to Aplastic anemia not specified Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Dyskeratosis congenita, autosomal dominant 2 Breast carcinoma Condition: not provided Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA129990	rs_35719940	18 SubmittersRCV000030632 RCV000032393 RCV000151992 RCV000395635 RCV000305704 RCV001262530 RCV001573195 RCV002513302 RCV004558282
NM_198253.3(TERT):c.430G>A (p.Val144Met)	SNV Germline	Chr5:1294456	Conflicting classifications of pathogenicity	Interstitial lung disease 2 Condition: not provided Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Pulmonary fibrosis	Criteria Provided Conflicting Classifications	CA343461	rs_199422291	5 SubmittersRCV000032397 RCV000256024 RCV002513303 RCV002509178
NR_001566.2(TERC):n.143G>A	SNV Germline	Chr3:169764918	Pathogenic	Dyskeratosis congenita, autosomal dominant 1 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2	No Assertion Criteria Provided	CA343754	rs_199422274	2 SubmittersRCV000032561 RCV001610304
NM_025099.6(CTC1):c.859C>T (p.Arg287Ter)	SNV Germline	Chr17:8236276	Pathogenic	Cerebroretinal microangiopathy with calcifications and cysts 1 Condition: not provided Dyskeratosis congenita	Criteria Provided Multiple Submitters No Conflicts	CA130804	rs_397514660	3 SubmittersRCV000033249 RCV001794465 RCV001852668
NM_001143992.2(WRAP53):c.492C>A (p.Phe164Leu)	SNV Germline	Chr17:7689284	Likely pathogenic	Dyskeratosis congenita, autosomal recessive 3 Condition: not provided	Criteria Provided Single Submitter	CA344267	rs_281865547	3 SubmittersRCV000034152 RCV000439983
NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His)	SNV Germline	Chr20:63695619	Pathogenic/Likely pathogenic	Dyskeratosis congenita, autosomal recessive 5 Interstitial lung disease 2 Condition: not provided Dyskeratosis congenita Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Dyskeratosis congenita, autosomal recessive 5 See cases Inborn genetic diseases Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3	Criteria Provided Multiple Submitters No Conflicts	CA130947	rs_201540674	15 SubmittersRCV000034860 RCV000201662 RCV000524079 RCV000586517 RCV000814441 RCV002222150 RCV002513343 RCV003329238
NM_001283009.2(RTEL1):c.1476G>T (p.Met492Ile)	SNV Germline	Chr20:63687765	Pathogenic/Likely pathogenic	Dyskeratosis congenita, autosomal recessive 5 Dyskeratosis congenita Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Dyskeratosis congenita, autosomal recessive 5 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA130949	rs_370343781	6 SubmittersRCV000034861 RCV000586033 RCV000824065 RCV003129760
NM_001283009.2(RTEL1):c.2920C>T (p.Arg974Ter)	SNV Germline	Chr20:63693211	Pathogenic	Dyskeratosis congenita, autosomal recessive 5 Interstitial lung disease 2 Dyskeratosis congenita Dyskeratosis congenita, autosomal recessive 5 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Condition: not provided Pulmonary fibrosis Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3	Criteria Provided Multiple Submitters No Conflicts	CA130951	rs_398123017	13 SubmittersRCV000034862 RCV000201744 RCV000589642 RCV000651094 RCV001558635 RCV002509182 RCV003492338
NM_001283009.2(RTEL1):c.2869C>T (p.Arg957Trp)	SNV Germline	Chr20:63693160	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal recessive 5 Dyskeratosis congenita Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Dyskeratosis congenita, autosomal recessive 5 Condition: not provided RTEL1-related disorder	Criteria Provided Conflicting Classifications	CA130954	rs_398123018	8 SubmittersRCV000034863 RCV000588014 RCV001239040 RCV003129761 RCV004534729
NM_001283009.2(RTEL1):c.2097C>G (p.Ile699Met)	SNV Germline	Chr20:63689821	Pathogenic	Dyskeratosis congenita, autosomal recessive 5	No Assertion Criteria Provided	CA144779	rs_398123048	1 SubmittersRCV000055635
NM_001283009.2(RTEL1):c.2141+5G>A	SNV Germline	Chr20:63689870	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal recessive 5	Criteria Provided Conflicting Classifications	CA144783	rs_398123050	4 SubmittersRCV000055637
NM_001283009.2(RTEL1):c.1773G>T (p.Glu591Asp)	SNV Germline	Chr20:63688578	Pathogenic	Dyskeratosis congenita, autosomal recessive 5	No Assertion Criteria Provided	CA144784	rs_398123051	1 SubmittersRCV000055638
NM_001283009.2(RTEL1):c.2956C>T (p.Arg986Ter)	SNV Germline	Chr20:63693247	Pathogenic/Likely pathogenic	Dyskeratosis congenita, autosomal dominant 4 Condition: not provided Dyskeratosis congenita, autosomal recessive 5 Dyskeratosis congenita, autosomal recessive 5 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Dyskeratosis congenita RTEL1-related disorder Pulmonary fibrosis	Criteria Provided Multiple Submitters No Conflicts	CA144786	rs_373740199	16 SubmittersRCV000055639 RCV000336673 RCV000665130 RCV000703852 RCV000502656 RCV004537250 RCV002509196
NM_001283009.2(RTEL1):c.1861G>A (p.Ala621Thr)	SNV Germline	Chr20:63689115	Pathogenic	Dyskeratosis congenita, autosomal dominant 4	No Assertion Criteria Provided	CA144788	rs_398123052	1 SubmittersRCV000055640
NM_198253.3(TERT):c.3105C>T (p.Val1035=)	SNV Germline	Chr5:1255339	Conflicting classifications of pathogenicity	not specified Dyskeratosis congenita, autosomal dominant 2 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Aplastic anemia Condition: not provided Dyskeratosis congenita Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Conflicting Classifications	CA178124	rs_181612536	13 SubmittersRCV000151993 RCV000313027 RCV000366513 RCV000399240 RCV001560519 RCV002256086 RCV002514931
NM_002582.4(PARN):c.1148C>T (p.Ala383Val)	SNV Germline	Chr16:14582225	Pathogenic	Dyskeratosis congenita Dyskeratosis congenita, autosomal recessive 6	No Assertion Criteria Provided	CA250319	rs_786200999	2 SubmittersRCV000162313 RCV000170484
NM_002582.4(PARN):c.918+1G>T	SNV Germline	Chr16:14593300	Pathogenic	Dyskeratosis congenita Dyskeratosis congenita, autosomal recessive 6	No Assertion Criteria Provided	CA250321	rs_756132866	2 SubmittersRCV000162314 RCV000170485
NM_002582.4(PARN):c.529C>T (p.Gln177Ter)	SNV Germline	Chr16:14610669	Pathogenic	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 Condition: not provided Pulmonary fibrosis Dyskeratosis congenita, autosomal recessive 6 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4	Criteria Provided Multiple Submitters No Conflicts	CA10575708	rs_876661305	4 SubmittersRCV000170590 RCV001311427 RCV002509273 RCV003765062
NM_198253.3(TERT):c.1990G>C (p.Val664Leu)	SNV Germline	Chr5:1279431	Conflicting classifications of pathogenicity	Condition: not provided Dyskeratosis congenita, autosomal dominant 2 Myelodysplasia Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications	CA208776	rs_797046042	5 SubmittersRCV000194545 RCV000515155 RCV001172445 RCV003105822
NM_025099.6(CTC1):c.2192G>A (p.Arg731Gln)	SNV Germline	Chr17:8232096	Conflicting classifications of pathogenicity	not specified Dyskeratosis congenita Cerebroretinal microangiopathy with calcifications and cysts 1 Condition: not provided Inborn genetic diseases CTC1-related disorder	Criteria Provided Conflicting Classifications	CA208071	rs_201891953	9 SubmittersRCV000194118 RCV000545908 RCV000764154 RCV001508436 RCV002517927 RCV003967495
NM_001283009.2(RTEL1):c.3615C>T (p.Ser1205=)	SNV Germline	Chr20:63695443	Conflicting classifications of pathogenicity	not specified Dyskeratosis congenita, autosomal recessive 5 Dyskeratosis congenita, autosomal recessive 5 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3	Criteria Provided Conflicting Classifications	CA205223	rs_797045923	3 SubmittersRCV000192413 RCV000670442 RCV001475667
NM_001283009.2(RTEL1):c.2413+1G>C	SNV Germline	Chr20:63690442	Pathogenic/Likely pathogenic	Interstitial lung disease 2 Dyskeratosis congenita Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Dyskeratosis congenita, autosomal recessive 5 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3	Criteria Provided Multiple Submitters No Conflicts	CA210103	rs_776744306	4 SubmittersRCV000201651 RCV000590169 RCV003329258 RCV003765296
NM_001283009.2(RTEL1):c.2957G>A (p.Arg986Gln)	SNV Germline	Chr20:63693248	Conflicting classifications of pathogenicity	Interstitial lung disease 2 Dyskeratosis congenita, autosomal recessive 5 Dyskeratosis congenita, autosomal recessive 5 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Dyskeratosis congenita Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 RTEL1-related disorder	Criteria Provided Conflicting Classifications	CA210095	rs_146221660	6 SubmittersRCV000201575 RCV000666023 RCV001309992 RCV001833164 RCV003329259 RCV004530203
NM_001283009.2(RTEL1):c.1482-1G>A	SNV Germline	Chr20:63687936	Pathogenic/Likely pathogenic	Interstitial lung disease 2 Dyskeratosis congenita Dyskeratosis congenita, autosomal recessive 5 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3	Criteria Provided Multiple Submitters No Conflicts	CA279370	rs_863225129	3 SubmittersRCV000201560 RCV000588351 RCV003765299
NM_001283009.2(RTEL1):c.1618T>G (p.Ser540Ala)	SNV Germline	Chr20:63688161	Conflicting classifications of pathogenicity	Interstitial lung disease 2 Dyskeratosis congenita, autosomal recessive 5 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3	Criteria Provided Conflicting Classifications	CA279525	rs_863225130	2 SubmittersRCV000201743 RCV002517308
NM_198253.3(TERT):c.834C>A (p.Pro278=)	SNV Germline	Chr5:1294052	Conflicting classifications of pathogenicity	not specified Aplastic anemia Dyskeratosis congenita, autosomal dominant 2 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184905	rs_375423906	4 SubmittersRCV000218700 RCV001152947 RCV001155583 RCV001152948 RCV002517511 RCV004558465
NM_198253.3(TERT):c.3333G>A (p.Thr1111=)	SNV Germline	Chr5:1253794	Conflicting classifications of pathogenicity	not specified Dyskeratosis congenita, autosomal dominant 2 Aplastic anemia Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Condition: not provided Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184210	rs_200102606	5 SubmittersRCV000501447 RCV001158196 RCV001158197 RCV001158198 RCV001668401 RCV002518383 RCV004558598
NM_198253.3(TERT):c.2991G>A (p.Val997=)	SNV Germline	Chr5:1258639	Conflicting classifications of pathogenicity	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Dyskeratosis congenita, autosomal dominant 2 Aplastic anemia not specified Dyskeratosis congenita Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Acute myeloid leukemia	Criteria Provided Conflicting Classifications	CA3184323	rs_376266401	6 SubmittersRCV001154848 RCV001154849 RCV001156515 RCV001820782 RCV002255342 RCV003103748 RCV003316312
NM_198253.3(TERT):c.2971-10G>T	SNV Germline	Chr5:1258669	Conflicting classifications of pathogenicity	not specified Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Condition: not provided TERT-related disorder	Criteria Provided Conflicting Classifications	CA10582350	rs_878855303	4 SubmittersRCV001820781 RCV002519813 RCV003237799 RCV004541460
NM_198253.3(TERT):c.2769G>A (p.Pro923=)	SNV Germline	Chr5:1264478	Conflicting classifications of pathogenicity	not specified Condition: not provided Dyskeratosis congenita Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Acute myeloid leukemia	Criteria Provided Conflicting Classifications	CA3184401	rs_200174990	6 SubmittersRCV000499661 RCV000732368 RCV002256178 RCV002518377 RCV003316311
NM_198253.3(TERT):c.2255A>G (p.His752Arg)	SNV Germline	Chr5:1278672	Conflicting classifications of pathogenicity	not specified Dyskeratosis congenita Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Conflicting Classifications	CA3184618	rs_375699185	4 SubmittersRCV000502003 RCV002255341 RCV002519811
NM_198253.3(TERT):c.2127C>G (p.Val709=)	SNV Germline	Chr5:1279294	Conflicting classifications of pathogenicity	not specified Aplastic anemia Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Dyskeratosis congenita, autosomal dominant 2 Condition: not provided Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184667	rs_765264494	5 SubmittersRCV000503916 RCV001154529 RCV001151517 RCV001151518 RCV003437032 RCV002518373 RCV004558594
NM_198253.3(TERT):c.2106G>A (p.Pro702=)	SNV Germline	Chr5:1279315	Conflicting classifications of pathogenicity	not specified Aplastic anemia Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Dyskeratosis congenita, autosomal dominant 2 Condition: not provided Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184671	rs_151055240	13 SubmittersRCV000250893 RCV000273101 RCV000302865 RCV000357715 RCV001529280 RCV002518372 RCV004558593
NM_198253.3(TERT):c.2098C>T (p.Gln700Ter)	SNV Germline	Chr5:1279323	Pathogenic	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Single Submitter	CA10582353	rs_878855300	1 SubmittersRCV002518371
NM_198253.3(TERT):c.2001C>T (p.Tyr667=)	SNV Germline	Chr5:1279420	Conflicting classifications of pathogenicity	Interstitial lung disease 2 Aplastic anemia Dyskeratosis congenita, autosomal dominant 2 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Dyskeratosis congenita Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis TERT-related disorder	Criteria Provided Conflicting Classifications	CA3184691	rs_758494245	6 SubmittersRCV000987500 RCV001155364 RCV001155365 RCV001155363 RCV002255340 RCV002518370 RCV004532972
NM_198253.3(TERT):c.1936C>T (p.Arg646Cys)	SNV Germline	Chr5:1280172	Conflicting classifications of pathogenicity	Condition: not provided not specified Dyskeratosis congenita Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications	CA3184723	rs_147521473	5 SubmittersRCV001775705 RCV001820780 RCV002256176 RCV002518369 RCV003469172
NM_198253.3(TERT):c.1336C>A (p.Arg446Ser)	SNV Germline	Chr5:1293550	Conflicting classifications of pathogenicity	Condition: not provided Dyskeratosis congenita not specified Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis TERT-related disorder	Criteria Provided Conflicting Classifications	CA3184855	rs_567650961	7 SubmittersRCV001356732 RCV002255339 RCV003151000 RCV002518367 RCV004532971
NM_198253.3(TERT):c.1331A>G (p.Asp444Gly)	SNV Germline	Chr5:1293555	Conflicting classifications of pathogenicity	Acute myeloid leukemia Condition: not provided Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA10582362	rs_878855299	4 SubmittersRCV001292603 RCV003325475 RCV002518366 RCV004558590
NM_198253.3(TERT):c.-57A>C	SNV Germline/somatic	Chr5:1295046	Conflicting classifications of pathogenicity	Melanoma, cutaneous malignant, susceptibility to, 9 Condition: not provided Malignant tumor of urinary bladder Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 not specified	Criteria Provided Conflicting Classifications	CA10582367	rs_878855297	8 SubmittersRCV000034312 RCV001820777 RCV003332157 RCV002519807 RCV003475834 RCV004558587
NM_017838.4(NHP2):c.270A>G (p.Val90=)	SNV Germline	Chr5:178150954	Conflicting classifications of pathogenicity	Dyskeratosis congenita not specified	Criteria Provided Conflicting Classifications	CA3589191	rs_148179279	3 SubmittersRCV000231151 RCV001820755
NM_025099.6(CTC1):c.2478A>G (p.Thr826=)	SNV Germline	Chr17:8231467	Conflicting classifications of pathogenicity	Dyskeratosis congenita not specified Condition: not provided Cerebroretinal microangiopathy with calcifications and cysts 1	Criteria Provided Conflicting Classifications	CA8372049	rs_200643329	8 SubmittersRCV000231025 RCV000501561 RCV001573147 RCV001807147
NM_198253.3(TERT):c.1849C>T (p.Leu617=)	SNV Germline	Chr5:1280259	Conflicting classifications of pathogenicity	not specified Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Aplastic anemia Dyskeratosis congenita, autosomal dominant 2 Condition: not provided Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita Acute myeloid leukemia	Criteria Provided Conflicting Classifications	CA3184742	rs_140951453	8 SubmittersRCV000244189 RCV000336462 RCV000287182 RCV000372475 RCV001580477 RCV002518668 RCV004558609 RCV003316456
NM_198253.3(TERT):c.1769+16G>A	SNV Germline	Chr5:1282413	Conflicting classifications of pathogenicity	not specified Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184775	rs_202108457	3 SubmittersRCV000248852 RCV003105841 RCV004558608
NM_198253.3(TERT):c.2455C>T (p.Arg819Cys)	SNV Germline	Chr5:1271132	Conflicting classifications of pathogenicity	Condition: not provided Dyskeratosis congenita Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications	CA10588390	rs_746621306	3 SubmittersRCV000256149 RCV002256186 RCV002518756
NM_198253.3(TERT):c.1700C>T (p.Thr567Met)	SNV Germline	Chr5:1282498	Likely pathogenic	Condition: not provided Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Multiple Submitters No Conflicts	CA10588391	rs_886039438	3 SubmittersRCV000255577 RCV002518755 RCV004558612
NM_198253.3(TERT):c.887A>C (p.His296Pro)	SNV Germline	Chr5:1293999	Conflicting classifications of pathogenicity	Aplastic anemia Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Dyskeratosis congenita, autosomal dominant 2 7 conditions Hepatocellular carcinoma not specified Condition: not provided Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications	CA3184895	rs_778187343	6 SubmittersRCV000283392 RCV000322037 RCV000378796 RCV000765804 RCV000503276 RCV001820800 RCV002305476 RCV002518795
NM_198253.3(TERT):c.150G>A (p.Leu50=)	SNV Germline	Chr5:1294840	Conflicting classifications of pathogenicity	Condition: not provided 7 conditions Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis TERT-related disorder Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA10606413	rs_886044153	5 SubmittersRCV000385403 RCV000764569 RCV002518081 RCV004543126 RCV004558615
NM_198253.3(TERT):c.2781A>G (p.Leu927=)	SNV Germline	Chr5:1264466	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Aplastic anemia Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184396	rs_370292237	3 SubmittersRCV000285766 RCV000343040 RCV000376627 RCV002520298 RCV004558620
NM_198253.3(TERT):c.2391C>G (p.Ser797=)	SNV Germline	Chr5:1271196	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Aplastic anemia Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Condition: not provided Dyskeratosis congenita not specified Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications	CA3184524	rs_377216965	7 SubmittersRCV000291722 RCV000328047 RCV000381346 RCV001584066 RCV002255373 RCV001821074 RCV002520301
NM_198253.3(TERT):c.219+7C>T	SNV Germline	Chr5:1294764	Conflicting classifications of pathogenicity	Aplastic anemia Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Dyskeratosis congenita, autosomal dominant 2 not specified Condition: not provided Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 TERT-related disorder Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3185020	rs_573817924	8 SubmittersRCV000266345 RCV000324023 RCV000357781 RCV000613962 RCV001528455 RCV002520305 RCV004544655 RCV004559045
NM_198253.3(TERT):c.2654+10G>A	SNV Germline	Chr5:1266454	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Aplastic anemia Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 TERT-related disorder	Criteria Provided Conflicting Classifications	CA3184437	rs_375473823	3 SubmittersRCV000274620 RCV000315371 RCV000367753 RCV002520299 RCV004544653
NM_017838.4(NHP2):c.160+10A>T	SNV Germline	Chr5:178153648	Conflicting classifications of pathogenicity	Dyskeratosis congenita Condition: not provided not specified NHP2-related disorder	Criteria Provided Conflicting Classifications	CA3589267	rs_376220034	5 SubmittersRCV000469686 RCV001702437 RCV001821077 RCV003972482
NM_198253.3(TERT):c.3150G>C (p.Lys1050Asn)	SNV Germline	Chr5:1255294	Conflicting classifications of pathogenicity	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Dyskeratosis congenita, autosomal dominant 2 Aplastic anemia not specified Dyskeratosis congenita Condition: not provided Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications	CA3184275	rs_373400596	6 SubmittersRCV000309581 RCV000344253 RCV000398654 RCV001815383 RCV002255372 RCV002509370 RCV002523498
NM_198253.3(TERT):c.2886C>T (p.Arg962=)	SNV Germline	Chr5:1260558	Conflicting classifications of pathogenicity	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Dyskeratosis congenita, autosomal dominant 2 Aplastic anemia Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184349	rs_542440625	3 SubmittersRCV000283455 RCV000319818 RCV000374647 RCV002523499 RCV004558619
NM_198253.3(TERT):c.663G>T (p.Ala221=)	SNV Germline	Chr5:1294223	Conflicting classifications of pathogenicity	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Dyskeratosis congenita, autosomal dominant 2 Aplastic anemia Dyskeratosis congenita Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications	CA3184933	rs_35837567	3 SubmittersRCV000312452 RCV000355603 RCV000403911 RCV004558621 RCV002520303
NM_198253.3(TERT):c.572G>C (p.Ser191Thr)	SNV Germline	Chr5:1294314	Conflicting classifications of pathogenicity	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Aplastic anemia Dyskeratosis congenita, autosomal dominant 2 not specified Dyskeratosis congenita Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Condition: not provided TERT-related disorder Acute myeloid leukemia	Criteria Provided Conflicting Classifications	CA3184953	rs_11952056	8 SubmittersRCV000296917 RCV000354116 RCV000404356 RCV001821075 RCV002257653 RCV002520304 RCV003137968 RCV004530415 RCV003316499
NM_001143992.2(WRAP53):c.495C>T (p.Ser165=)	SNV Germline	Chr17:7689287	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal recessive 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA8354989	rs_147817526	3 SubmittersRCV000399881 RCV002056637
NM_018648.4(NOP10):c.51G>C (p.Leu17=)	SNV Germline	Chr15:34343023	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal recessive 1	Criteria Provided Conflicting Classifications	CA7464811	rs_761222362	2 SubmittersRCV000306780
NM_001099274.3(TINF2):c.62A>G (p.Gln21Arg)	SNV Germline	Chr14:24242271	Conflicting classifications of pathogenicity	Revesz syndrome Dyskeratosis congenita, autosomal dominant 3 Dyskeratosis congenita Condition: not provided	Criteria Provided Conflicting Classifications	CA7130763	rs_367835995	4 SubmittersRCV000293979 RCV000346506 RCV001042861 RCV003235188
NM_001099274.3(TINF2):c.507+5C>T	SNV Germline	Chr14:24241199	Conflicting classifications of pathogenicity	Revesz syndrome Dyskeratosis congenita, autosomal dominant 3 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA7130644	rs_761308889	2 SubmittersRCV000303864 RCV000356203 RCV002522301
NM_018648.4(NOP10):c.55-9C>T	SNV Germline	Chr15:34342117	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal recessive 1 Condition: not provided not specified Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA7464781	rs_72720799	7 SubmittersRCV000538557 RCV001729528 RCV001820934 RCV002256204
NM_025099.6(CTC1):c.3190A>G (p.Thr1064Ala)	SNV Germline	Chr17:8229173	Conflicting classifications of pathogenicity	Dyskeratosis congenita Cerebroretinal microangiopathy with calcifications and cysts 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8371851	rs_777357385	4 SubmittersRCV000813460 RCV001807217 RCV003343781
NM_025099.6(CTC1):c.2439G>A (p.Pro813=)	SNV Germline	Chr17:8231762	Conflicting classifications of pathogenicity	Dyskeratosis congenita Cerebroretinal microangiopathy with calcifications and cysts 1	Criteria Provided Conflicting Classifications	CA8372081	rs_200759730	3 SubmittersRCV001062476 RCV001807221
NM_025099.6(CTC1):c.1728G>A (p.Pro576=)	SNV Germline	Chr17:8234545	Conflicting classifications of pathogenicity	Dyskeratosis congenita not specified Condition: not provided Cerebroretinal microangiopathy with calcifications and cysts 1 CTC1-related disorder	Criteria Provided Conflicting Classifications	CA8372269	rs_78320653	8 SubmittersRCV000634522 RCV000503687 RCV001753785 RCV001807228 RCV003912360
NM_025099.6(CTC1):c.1500C>T (p.Pro500=)	SNV Germline	Chr17:8234866	Conflicting classifications of pathogenicity	Dyskeratosis congenita Cerebroretinal microangiopathy with calcifications and cysts 1	Criteria Provided Conflicting Classifications	CA8372330	rs_761750183	4 SubmittersRCV000873101 RCV001807229
NM_001143992.2(WRAP53):c.822+10G>A	SNV Germline	Chr17:7701559	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal recessive 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA8355140	rs_372606750	2 SubmittersRCV000344488 RCV002056638
NM_001143992.2(WRAP53):c.834G>A (p.Thr278=)	SNV Germline	Chr17:7701668	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal recessive 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA8355172	rs_372166304	2 SubmittersRCV000309518 RCV000899517
NM_025099.6(CTC1):c.3504C>T (p.Ile1168=)	SNV Germline	Chr17:8228513	Conflicting classifications of pathogenicity	Dyskeratosis congenita not specified	Criteria Provided Conflicting Classifications	CA8371757	rs_760547081	3 SubmittersRCV000297674 RCV001820981
NM_025099.6(CTC1):c.1734C>T (p.Ala578=)	SNV Germline	Chr17:8234539	Conflicting classifications of pathogenicity	Dyskeratosis congenita Condition: not provided Cerebroretinal microangiopathy with calcifications and cysts 1	Criteria Provided Conflicting Classifications	CA8372267	rs_374985738	5 SubmittersRCV000544541 RCV003418031 RCV001807227
NM_025099.6(CTC1):c.663T>C (p.Gly221=)	SNV Germline	Chr17:8237504	Conflicting classifications of pathogenicity	Dyskeratosis congenita Cerebroretinal microangiopathy with calcifications and cysts 1 Condition: not provided CTC1-related disorder	Criteria Provided Conflicting Classifications	CA8372572	rs_138725914	5 SubmittersRCV000634512 RCV001807231 RCV003884476 RCV003969928
NM_001143992.2(WRAP53):c.1035C>T (p.Tyr345=)	SNV Germline	Chr17:7702423	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal recessive 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA8355249	rs_138784430	2 SubmittersRCV000303391 RCV001445333
NM_001143992.2(WRAP53):c.1269-13C>T	SNV Germline	Chr17:7702980	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal recessive 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA8355317	rs_371953585	2 SubmittersRCV000360411 RCV002056639
NM_025099.6(CTC1):c.2895C>T (p.Ala965=)	SNV Germline	Chr17:8230332	Conflicting classifications of pathogenicity	Dyskeratosis congenita not specified Cerebroretinal microangiopathy with calcifications and cysts 1	Criteria Provided Conflicting Classifications	CA8371952	rs_373530008	5 SubmittersRCV000861919 RCV001820982 RCV001807219
NM_025099.6(CTC1):c.615C>T (p.Tyr205=)	SNV Germline	Chr17:8238063	Conflicting classifications of pathogenicity	not specified Dyskeratosis congenita Cerebroretinal microangiopathy with calcifications and cysts 1 Condition: not provided CTC1-related disorder	Criteria Provided Conflicting Classifications	CA8372600	rs_571035242	6 SubmittersRCV000500419 RCV000863925 RCV001807232 RCV003418032 RCV003950112
NM_025099.6(CTC1):c.1459A>G (p.Arg487Gly)	SNV Germline	Chr17:8234907	Conflicting classifications of pathogenicity	Condition: not provided Dyskeratosis congenita Cerebroretinal microangiopathy with calcifications and cysts 1	Criteria Provided Conflicting Classifications	CA8372338	rs_747887601	3 SubmittersRCV000428927 RCV000634491 RCV001807251
NM_001143992.2(WRAP53):c.1075C>T (p.Pro359Ser)	SNV Germline	Chr17:7702463	Conflicting classifications of pathogenicity	not specified Condition: not provided Dyskeratosis congenita WRAP53-related disorder	Criteria Provided Conflicting Classifications	CA8355254	rs_149359927	5 SubmittersRCV000426413 RCV000767151 RCV002418337 RCV003942461
NM_001363.5(DKC1):c.1133G>A (p.Arg378Gln)	SNV Germline	ChrX:154773227	Conflicting classifications of pathogenicity	Condition: not provided Dyskeratosis congenita, X-linked Congenital cerebellar hypoplasia Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA16608850	rs_1057520719	5 SubmittersRCV000442656 RCV000779660 RCV001257984 RCV003530047
NM_198253.3(TERT):c.2141C>T (p.Thr714Met)	SNV Germline	Chr5:1278786	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita, autosomal dominant 2 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Dyskeratosis congenita Condition: not provided	Criteria Provided Conflicting Classifications	CA3184642	rs_772441504	4 SubmittersRCV002525587 RCV003150818 RCV003150819 RCV004559084 RCV003233642
NM_198253.3(TERT):c.2011C>T (p.Arg671Trp)	SNV Germline	Chr5:1279410	Conflicting classifications of pathogenicity	Condition: not provided Hoyeraal-Hreidarsson syndrome Autosomal recessive dyskeratosis congenita 4 Autosomal recessive dyskeratosis congenita 4 Pulmonary fibrosis Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Telomere syndrome Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA16611699	rs_1060503011	7 SubmittersRCV001508166 RCV001753903 RCV002264699 RCV002509394 RCV002523341 RCV003325407 RCV004559086
NM_198253.3(TERT):c.1931C>T (p.Thr644Met)	SNV Germline	Chr5:1280177	Conflicting classifications of pathogenicity	Chronic obstructive pulmonary disease Decreased circulating antibody level Chronic diarrhea Immunodeficiency Condition: not provided 7 conditions Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 TERT-related disorder Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications	CA3184726	rs_201927653	6 SubmittersRCV002244939 RCV002307507 RCV002506127 RCV002526430 RCV004539953 RCV003463952
NM_198253.3(TERT):c.2465G>A (p.Gly822Asp)	SNV Germline	Chr5:1271122	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications	CA3184512	rs_757820442	2 SubmittersRCV002523340 RCV004568061
NM_198253.3(TERT):c.2130+10G>A	SNV Germline	Chr5:1279281	Conflicting classifications of pathogenicity	not specified Dyskeratosis congenita, autosomal dominant 2 Aplastic anemia Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Condition: not provided Dyskeratosis congenita TERT-related disorder Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Conflicting Classifications	CA3184663	rs_373879259	6 SubmittersRCV000502349 RCV001151514 RCV001151515 RCV001151516 RCV001536535 RCV004559102 RCV004541500 RCV002526490
NM_198253.3(TERT):c.1974G>A (p.Val658=)	SNV Germline	Chr5:1279447	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Aplastic anemia not specified Dyskeratosis congenita Condition: not provided Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis TERT-related disorder	Criteria Provided Conflicting Classifications	CA3184695	rs_778496417	7 SubmittersRCV001157052 RCV001157053 RCV001157054 RCV001821371 RCV002257755 RCV003431033 RCV002525684 RCV004541497
NM_198253.3(TERT):c.673G>C (p.Gly225Arg)	SNV Germline	Chr5:1294213	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA16611921	rs_1060502999	2 SubmittersRCV003103781 RCV004559076
NM_001099274.3(TINF2):c.1166T>C (p.Ile389Thr)	SNV Germline	Chr14:24240119	Conflicting classifications of pathogenicity	Dyskeratosis congenita not specified TINF2-related disorder	Criteria Provided Conflicting Classifications	CA7130468	rs_192423622	4 SubmittersRCV000465078 RCV001821320 RCV003970312
NM_025099.6(CTC1):c.1720C>T (p.Pro574Ser)	SNV Germline	Chr17:8234553	Conflicting classifications of pathogenicity	Dyskeratosis congenita not specified Condition: not provided Cerebroretinal microangiopathy with calcifications and cysts 1 CTC1-related disorder	Criteria Provided Conflicting Classifications	CA8372273	rs_200440641	8 SubmittersRCV000469334 RCV000500603 RCV001551204 RCV001807256 RCV003418207
NM_001099274.3(TINF2):c.81C>A (p.Cys27Ter)	SNV Germline	Chr14:24242252	Conflicting classifications of pathogenicity	Revesz syndrome Dyskeratosis congenita, autosomal dominant 3 Condition: not provided Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA16616926	rs_1060499576	4 SubmittersRCV000477835 RCV000578829 RCV002525744
NM_002582.4(PARN):c.1330C>T (p.Arg444Cys)	SNV Germline	Chr16:14554140	Conflicting classifications of pathogenicity	Condition: not provided Dyskeratosis congenita, autosomal recessive 6 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 Pulmonary fibrosis	Criteria Provided Conflicting Classifications	CA7912056	rs_765981944	3 SubmittersRCV000484657 RCV001308486 RCV002509408
NM_001283009.2(RTEL1):c.1648C>T (p.Arg550Cys)	SNV Germline	Chr20:63688312	Conflicting classifications of pathogenicity	Condition: not provided Dyskeratosis congenita, autosomal recessive 5 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Dyskeratosis congenita, autosomal recessive 5 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA9964910	rs_369419645	5 SubmittersRCV000478358 RCV000688506 RCV000984211 RCV002255417
NM_001363.5(DKC1):c.1054A>G (p.Thr352Ala)	SNV Germline	ChrX:154773148	Likely pathogenic	Dyskeratosis congenita, X-linked	No Assertion Criteria Provided	CA414895026	rs_1114167422	1 SubmittersRCV000491810
NR_001566.2(TERC):n.443C>A	SNV Germline	Chr3:169764618	Likely pathogenic	Dyskeratosis congenita, autosomal dominant 1	Criteria Provided Single Submitter	CA436714714	rs_1553915577	1 SubmittersRCV000500627
NR_001566.2(TERC):n.306T>G	SNV Germline	Chr3:169764755	Likely pathogenic	Dyskeratosis congenita, autosomal dominant 1	Criteria Provided Single Submitter	CA436715097	rs_1553915591	1 SubmittersRCV000503728
NM_198253.3(TERT):c.2329G>A (p.Val777Met)	SNV Germline	Chr5:1272238	Conflicting classifications of pathogenicity	not specified Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis TERT-related disorder	Criteria Provided Conflicting Classifications	CA359076368	rs_1554040129	3 SubmittersRCV000500578 RCV003766854 RCV004535624
NM_198253.3(TERT):c.2301A>G (p.Thr767=)	SNV Germline	Chr5:1272266	Conflicting classifications of pathogenicity	not specified Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Condition: not provided Dyskeratosis congenita TERT-related disorder	Criteria Provided Conflicting Classifications	CA112944751	rs_374592280	5 SubmittersRCV000500257 RCV002524308 RCV003437237 RCV004559133 RCV004535623
NM_198253.3(TERT):c.2058C>G (p.Ile686Met)	SNV Germline	Chr5:1279363	Likely pathogenic	Dyskeratosis congenita	Criteria Provided Single Submitter	CA359080298	rs_745590324	1 SubmittersRCV000500038
NM_198253.3(TERT):c.2011C>G (p.Arg671Gly)	SNV Germline	Chr5:1279410	Conflicting classifications of pathogenicity	Dyskeratosis congenita Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Conflicting Classifications	CA359080693	rs_1060503011	2 SubmittersRCV000502929 RCV002524314
NM_198253.3(TERT):c.1462C>T (p.Leu488Phe)	SNV Germline	Chr5:1293424	Conflicting classifications of pathogenicity	not specified Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Conflicting Classifications	CA3184839	rs_746216837	2 SubmittersRCV000502511 RCV002524311
NM_198253.3(TERT):c.943C>A (p.Arg315Ser)	SNV Germline	Chr5:1293943	Conflicting classifications of pathogenicity	not specified Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA359056111	rs_1554042911	3 SubmittersRCV000503974 RCV002524312 RCV004559136
NM_198253.3(TERT):c.264G>C (p.Leu88=)	SNV Germline	Chr5:1294622	Conflicting classifications of pathogenicity	not specified Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184998	rs_768398792	3 SubmittersRCV000502707 RCV002527298 RCV004559135
NM_017838.4(NHP2):c.160+9G>A	SNV Germline	Chr5:178153649	Conflicting classifications of pathogenicity	not specified Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3589270	rs_756638436	2 SubmittersRCV000499806 RCV003530056
NM_001082486.2(ACD):c.22G>A (p.Val8Ile)	SNV Germline	Chr16:67660199	Conflicting classifications of pathogenicity	not specified Dyskeratosis congenita, autosomal dominant 6 Condition: not provided Inborn genetic diseases ACD-related disorder	Criteria Provided Conflicting Classifications	CA8114847	rs_149365469	10 SubmittersRCV000503600 RCV000694462 RCV001702497 RCV003243155 RCV003962366
NM_025099.6(CTC1):c.3605G>A (p.Arg1202Gln)	SNV Germline	Chr17:8228229	Conflicting classifications of pathogenicity	not specified Dyskeratosis congenita Cerebroretinal microangiopathy with calcifications and cysts 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8371698	rs_778830884	4 SubmittersRCV000500962 RCV000818931 RCV001807274 RCV004023367
NM_025099.6(CTC1):c.3222-4A>G	SNV Germline	Chr17:8228896	Conflicting classifications of pathogenicity	not specified Cerebroretinal microangiopathy with calcifications and cysts 1 Dyskeratosis congenita CTC1-related disorder	Criteria Provided Conflicting Classifications	CA8371823	rs_562479062	4 SubmittersRCV000502629 RCV001807272 RCV000869171 RCV003900040
NM_025099.6(CTC1):c.363G>A (p.Ser121=)	SNV Germline	Chr17:8238464	Conflicting classifications of pathogenicity	not specified Dyskeratosis congenita Cerebroretinal microangiopathy with calcifications and cysts 1	Criteria Provided Conflicting Classifications	CA8372648	rs_770555372	3 SubmittersRCV000502493 RCV001415273 RCV001807271
NM_025099.6(CTC1):c.147C>T (p.Val49=)	SNV Germline	Chr17:8243035	Conflicting classifications of pathogenicity	not specified Dyskeratosis congenita Cerebroretinal microangiopathy with calcifications and cysts 1 Condition: not provided CTC1-related disorder	Criteria Provided Conflicting Classifications	CA8372704	rs_201492796	9 SubmittersRCV000504067 RCV000530550 RCV001807273 RCV001531253 RCV003960159
NM_025099.6(CTC1):c.13C>T (p.Arg5Trp)	SNV Germline	Chr17:8248024	Conflicting classifications of pathogenicity	not specified Dyskeratosis congenita Cerebroretinal microangiopathy with calcifications and cysts 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8372764	rs_201280372	6 SubmittersRCV000501146 RCV000634521 RCV001172451 RCV002527228
NM_001283009.2(RTEL1):c.49C>T (p.Pro17Ser)	SNV Germline	Chr20:63659451	Likely pathogenic	Dyskeratosis congenita	Criteria Provided Single Submitter	CA409657490	rs_1555899096	1 SubmittersRCV000503722
NM_001283009.2(RTEL1):c.1135+1G>A	SNV Germline	Chr20:63679947	Pathogenic/Likely pathogenic	Dyskeratosis congenita Acute myeloid leukemia Pulmonary fibrosis Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Dyskeratosis congenita, autosomal recessive 5	Criteria Provided Multiple Submitters No Conflicts	CA409674081	rs_1555903332	4 SubmittersRCV000503881 RCV001172446 RCV002509415 RCV003766850
NM_001283009.2(RTEL1):c.1349-9G>A	SNV Germline	Chr20:63687629	Conflicting classifications of pathogenicity	not specified Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Dyskeratosis congenita, autosomal recessive 5 Dyskeratosis congenita, autosomal dominant 1 RTEL1-related disorder	Criteria Provided Conflicting Classifications	CA9964776	rs_772899702	5 SubmittersRCV000501430 RCV000651123 RCV001275092 RCV004541568
NM_001283009.2(RTEL1):c.2612C>T (p.Pro871Leu)	SNV Germline	Chr20:63691797	Conflicting classifications of pathogenicity	not specified Dyskeratosis congenita, autosomal recessive 5 Dyskeratosis congenita, autosomal recessive 5 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA9965429	rs_144002969	4 SubmittersRCV000501006 RCV000673277 RCV000695080 RCV001834617
NM_001283009.2(RTEL1):c.2852-9C>T	SNV Germline	Chr20:63693134	Conflicting classifications of pathogenicity	not specified Dyskeratosis congenita, autosomal recessive 5 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3	Criteria Provided Conflicting Classifications	CA9965631	rs_375886371	2 SubmittersRCV000504110 RCV002060143
NM_001283009.2(RTEL1):c.2987C>A (p.Pro996His)	SNV Germline	Chr20:63693278	Conflicting classifications of pathogenicity	not specified Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Dyskeratosis congenita, autosomal recessive 5 Dyskeratosis congenita Inborn genetic diseases RTEL1-related disorder	Criteria Provided Conflicting Classifications	CA9965693	rs_373210484	7 SubmittersRCV000503523 RCV000765496 RCV001272192 RCV002446980 RCV004535619
NM_001283009.2(RTEL1):c.3381C>T (p.Arg1127=)	SNV Germline	Chr20:63695103	Conflicting classifications of pathogenicity	not specified Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Dyskeratosis congenita, autosomal recessive 5 RTEL1-related disorder	Criteria Provided Conflicting Classifications	CA9966011	rs_368588082	3 SubmittersRCV000499520 RCV001458338 RCV004535617
NM_001363.5(DKC1):c.1255T>A (p.Tyr419Asn)	SNV Germline	ChrX:154774701	Likely pathogenic	Dyskeratosis congenita, X-linked	Criteria Provided Single Submitter	CA414898480	rs_1557265435	1 SubmittersRCV000501902
NM_198253.3(TERT):c.359G>C (p.Arg120Pro)	SNV Germline	Chr5:1294527	Conflicting classifications of pathogenicity	not specified Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA359058195	rs_1554043083	3 SubmittersRCV000507795 RCV003766883 RCV004559141
NM_198253.3(TERT):c.2947C>T (p.His983Tyr)	SNV Germline	Chr5:1260497	Conflicting classifications of pathogenicity	Condition: not provided Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Conflicting Classifications	CA359069737	rs_1554038803	4 SubmittersRCV000509390 RCV002231191 RCV002527380
NM_198253.3(TERT):c.2320C>T (p.Arg774Ter)	SNV Germline	Chr5:1272247	Pathogenic	Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Multiple Submitters No Conflicts		rs_770066110	2 SubmittersRCV000677346 RCV002525003
NM_198253.3(TERT):c.2287-5G>A	SNV Germline	Chr5:1272285	Conflicting classifications of pathogenicity	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 7 conditions Condition: not provided not specified Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 TERT-related disorder	Criteria Provided Conflicting Classifications		rs_561426406	7 SubmittersRCV000677347 RCV000765795 RCV001755759 RCV001821447 RCV002525004 RCV003476211 RCV004535664
NM_198253.3(TERT):c.2051A>G (p.Asp684Gly)	SNV Germline	Chr5:1279370	Conflicting classifications of pathogenicity	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Dyskeratosis congenita, autosomal dominant 2 Interstitial lung disease 2 Dyskeratosis congenita, autosomal dominant 2 Condition: not provided	Criteria Provided Conflicting Classifications		rs_776981958	3 SubmittersRCV000677345 RCV000799933 RCV001508165
NM_001363.5(DKC1):c.203A>G (p.His68Arg)	SNV Unknown	ChrX:154765938	Pathogenic	Dyskeratosis congenita, X-linked	Criteria Provided Single Submitter		rs_1557264102	1 SubmittersRCV000677353
NR_001566.2(TERC):n.128A>G	SNV Germline	Chr3:169764933	Conflicting classifications of pathogenicity	Condition: not provided Dyskeratosis congenita, autosomal dominant 1	Criteria Provided Conflicting Classifications	CA436715711	rs_1553915610	2 SubmittersRCV000523477 RCV003614040
NM_001283009.2(RTEL1):c.396-26C>T	SNV Germline	Chr20:63662520	Pathogenic/Likely pathogenic	Condition: not provided Dyskeratosis congenita, autosomal recessive 5 Dyskeratosis congenita Dyskeratosis congenita, autosomal recessive 5 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3	Criteria Provided Multiple Submitters No Conflicts	CA9964243	rs_80224512	6 SubmittersRCV000522006 RCV000670829 RCV001276031 RCV002497014
NM_198253.3(TERT):c.2580C>T (p.Asp860=)	SNV Germline	Chr5:1268522	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Aplastic anemia Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184461	rs_751752830	3 SubmittersRCV001153601 RCV001153600 RCV001153599 RCV002530145 RCV004559199
NM_198253.3(TERT):c.2353C>G (p.Pro785Ala)	SNV Germline	Chr5:1272214	Conflicting classifications of pathogenicity	Condition: not provided Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications	CA3184560	rs_755822641	2 SubmittersRCV002466532 RCV002530136
NM_198253.3(TERT):c.1937G>A (p.Arg646His)	SNV Germline	Chr5:1280171	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA359081026	rs_779338296	2 SubmittersRCV002530114 RCV004559182
NM_198253.3(TERT):c.2286C>T (p.His762=)	SNV Germline	Chr5:1278641	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 TERT-related disorder	Criteria Provided Conflicting Classifications	CA3184610	rs_768062052	2 SubmittersRCV002530135 RCV004543198
NM_198253.3(TERT):c.2185A>G (p.Ile729Val)	SNV Germline	Chr5:1278742	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Condition: not provided TERT-related disorder Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184631	rs_753929279	4 SubmittersRCV002530130 RCV003228951 RCV004538046 RCV004559189
NM_198253.3(TERT):c.1939A>C (p.Arg647=)	SNV Germline	Chr5:1280169	Conflicting classifications of pathogenicity	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Dyskeratosis congenita, autosomal dominant 2 Aplastic anemia Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184721	rs_144821759	3 SubmittersRCV001157056 RCV001253988 RCV001157055 RCV002530115 RCV004559183
NM_198253.3(TERT):c.1829G>A (p.Arg610Gln)	SNV Germline	Chr5:1280279	Conflicting classifications of pathogenicity	Condition: not provided Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184746	rs_776763536	3 SubmittersRCV003431098 RCV002530109 RCV004559181
NM_198253.3(TERT):c.779G>A (p.Gly260Asp)	SNV Germline	Chr5:1294107	Conflicting classifications of pathogenicity	Dyskeratosis congenita Condition: not provided Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Aplastic anemia	Criteria Provided Conflicting Classifications	CA3184914	rs_148798048	4 SubmittersRCV002255455 RCV002260647 RCV002530175 RCV003333079
NM_198253.3(TERT):c.193C>G (p.Pro65Ala)	SNV Germline	Chr5:1294797	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA3185021	rs_544215765	6 SubmittersRCV001254604 RCV002256385 RCV002530117 RCV003236816
NM_198253.3(TERT):c.2885G>A (p.Arg962His)	SNV Germline	Chr5:1260559	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184350	rs_759490631	3 SubmittersRCV003230269 RCV002530154 RCV004559205
NM_198253.3(TERT):c.2666G>A (p.Arg889Gln)	SNV Germline	Chr5:1264581	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA112938010	rs_532158398	2 SubmittersRCV002530148 RCV004559201
NM_198253.3(TERT):c.1957C>T (p.Arg653Cys)	SNV Germline	Chr5:1279464	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications	CA3184698	rs_372272356	2 SubmittersRCV002530120 RCV003470764
NM_198253.3(TERT):c.3302C>T (p.Thr1101Met)	SNV Germline	Chr5:1253825	Conflicting classifications of pathogenicity	Dyskeratosis congenita Condition: not provided Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications	CA3184216	rs_764602705	4 SubmittersRCV002256386 RCV002307542 RCV002530163
NM_198253.3(TERT):c.2652C>T (p.Leu884=)	SNV Germline	Chr5:1266466	Conflicting classifications of pathogenicity	Condition: not provided Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184439	rs_374309472	3 SubmittersRCV001770465 RCV002530147 RCV004559200
NM_198253.3(TERT):c.1269C>T (p.Ala423=)	SNV Germline	Chr5:1293617	Conflicting classifications of pathogenicity	Aplastic anemia Dyskeratosis congenita, autosomal dominant 2 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 not specified Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Condition: not provided Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184862	rs_190411812	5 SubmittersRCV001155486 RCV001155485 RCV001155487 RCV001821573 RCV002530096 RCV003992323 RCV004559172
NM_198253.3(TERT):c.838G>A (p.Glu280Lys)	SNV Germline	Chr5:1294048	Conflicting classifications of pathogenicity	Interstitial lung disease 2 Condition: not provided not specified Dyskeratosis congenita Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Acute myeloid leukemia	Criteria Provided Conflicting Classifications	CA3184904	rs_199701877	8 SubmittersRCV000987502 RCV001576510 RCV001821580 RCV002255456 RCV002530177 RCV003316717
NM_198253.3(TERT):c.645C>T (p.Gly215=)	SNV Germline	Chr5:1294241	Conflicting classifications of pathogenicity	Aplastic anemia Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Dyskeratosis congenita, autosomal dominant 2 Condition: not provided not specified Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184937	rs_768426236	7 SubmittersRCV001157267 RCV001157266 RCV001157268 RCV001529708 RCV001821579 RCV002530173 RCV004559217
NM_025099.6(CTC1):c.1207-4C>T	SNV Germline	Chr17:8235289	Conflicting classifications of pathogenicity	Condition: not provided Dyskeratosis congenita Cerebroretinal microangiopathy with calcifications and cysts 1 not specified	Criteria Provided Conflicting Classifications	CA8372419	rs_369904656	7 SubmittersRCV000542061 RCV001087623 RCV001335133 RCV001821517
NM_025099.6(CTC1):c.1564C>T (p.Arg522Trp)	SNV Germline	Chr17:8234802	Conflicting classifications of pathogenicity	Dyskeratosis congenita Cerebroretinal microangiopathy with calcifications and cysts 1 not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8372315	rs_199698527	4 SubmittersRCV000538568 RCV001839012 RCV001821518 RCV002527700
NM_025099.6(CTC1):c.597G>A (p.Thr199=)	SNV Germline	Chr17:8238081	Conflicting classifications of pathogenicity	Dyskeratosis congenita Condition: not provided Cerebroretinal microangiopathy with calcifications and cysts 1 not specified	Criteria Provided Conflicting Classifications	CA8372602	rs_373023392	6 SubmittersRCV000541269 RCV003419929 RCV001807296 RCV001821520
NM_025099.6(CTC1):c.34-9T>G	SNV Germline	Chr17:8243157	Conflicting classifications of pathogenicity	Dyskeratosis congenita Cerebroretinal microangiopathy with calcifications and cysts 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA8372726	rs_201195157	5 SubmittersRCV000547685 RCV001172447 RCV001569942
NM_025099.6(CTC1):c.1958G>A (p.Arg653Gln)	SNV Germline	Chr17:8232463	Conflicting classifications of pathogenicity	Dyskeratosis congenita Cerebroretinal microangiopathy with calcifications and cysts 1	Criteria Provided Conflicting Classifications	CA8372213	rs_775779700	4 SubmittersRCV000533572 RCV000764155
NM_025099.6(CTC1):c.862G>A (p.Val288Met)	SNV Germline	Chr17:8236273	Conflicting classifications of pathogenicity	Dyskeratosis congenita Cerebroretinal microangiopathy with calcifications and cysts 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA8372533	rs_201553464	6 SubmittersRCV000553611 RCV000764156 RCV001764545
NM_001283009.2(RTEL1):c.971G>A (p.Arg324His)	SNV Germline	Chr20:63678280	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal recessive 5 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Dyskeratosis congenita, autosomal recessive 5 Dyskeratosis congenita Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA9964547	rs_113684274	8 SubmittersRCV000536702 RCV001007595 RCV000990339 RCV001829595 RCV002404541 RCV003480684
NM_001363.5(DKC1):c.20T>C (p.Ile7Thr)	SNV Germline	ChrX:154764902	Conflicting classifications of pathogenicity	Dyskeratosis congenita Condition: not provided	Criteria Provided Conflicting Classifications	CA10566951	rs_782343800	2 SubmittersRCV001078718 RCV000733974
NM_001283009.2(RTEL1):c.102+2T>C	SNV Germline	Chr20:63659506	Pathogenic	Dyskeratosis congenita	Criteria Provided Single Submitter	CA409657623	rs_1555899111	1 SubmittersRCV000587587
NM_198253.3(TERT):c.2936G>A (p.Arg979Gln)	SNV Germline	Chr5:1260508	Conflicting classifications of pathogenicity	not specified Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Conflicting Classifications	CA3184345	rs_765566930	4 SubmittersRCV000604673 RCV000855405 RCV002529360
NM_198253.3(TERT):c.3089C>G (p.Thr1030Arg)	SNV Germline	Chr5:1255355	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita TERT-related disorder	Criteria Provided Conflicting Classifications	CA3184291	rs_377419542	3 SubmittersRCV002533393 RCV004559292 RCV004533396
NM_198253.3(TERT):c.2523C>G (p.Leu841=)	SNV Germline	Chr5:1268579	Conflicting classifications of pathogenicity	Aplastic anemia Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA359074714	rs_1554039733	3 SubmittersRCV001156212 RCV001156210 RCV001156211 RCV002533405 RCV004559304
NM_198253.3(TERT):c.1954G>A (p.Glu652Lys)	SNV Germline	Chr5:1279467	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 7 conditions Condition: not provided Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA359080888	rs_1228165704	5 SubmittersRCV002533379 RCV003472038 RCV002485456 RCV003153788 RCV004559285
NM_198253.3(TERT):c.2884C>T (p.Arg962Cys)	SNV Germline	Chr5:1260560	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Condition: not provided Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications	CA3184351	rs_144697790	3 SubmittersRCV002533382 RCV003228970 RCV004568447
NM_198253.3(TERT):c.2228G>A (p.Arg743Gln)	SNV Germline	Chr5:1278699	Conflicting classifications of pathogenicity	not specified Dyskeratosis congenita Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Conflicting Classifications	CA3184621	rs_768168259	3 SubmittersRCV001816611 RCV002255492 RCV002533373
NM_198253.3(TERT):c.2689G>A (p.Val897Met)	SNV Germline	Chr5:1264558	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis TERT-related disorder	Criteria Provided Conflicting Classifications	CA3184415	rs_559028617	2 SubmittersRCV002533383 RCV004533394
NM_198253.3(TERT):c.2573G>A (p.Arg858Gln)	SNV Germline	Chr5:1268529	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis TERT-related disorder Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications	CA3184463	rs_144779807	3 SubmittersRCV002533386 RCV004544885 RCV004568449
NM_198253.3(TERT):c.3117G>A (p.Thr1039=)	SNV Germline	Chr5:1255327	Conflicting classifications of pathogenicity	not specified Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184281	rs_773595628	3 SubmittersRCV001816610 RCV002533372 RCV004559282
NM_198253.3(TERT):c.1393G>C (p.Val465Leu)	SNV Germline	Chr5:1293493	Conflicting classifications of pathogenicity	7 conditions Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Condition: not provided TERT-related disorder	Criteria Provided Conflicting Classifications	CA3184848	rs_758110675	4 SubmittersRCV000765803 RCV002533376 RCV003236829 RCV004544884
NM_198253.3(TERT):c.892T>A (p.Ser298Thr)	SNV Germline	Chr5:1293994	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA359056279	rs_1334806555	2 SubmittersRCV002533374 RCV004559283
NM_198253.3(TERT):c.863C>T (p.Ala288Val)	SNV Germline	Chr5:1294023	Conflicting classifications of pathogenicity	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Condition: not provided 7 conditions Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis TERT-related disorder Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184898	rs_774657340	7 SubmittersRCV001293960 RCV002307574 RCV002477438 RCV002533384 RCV004533395 RCV004559287
NM_198253.3(TERT):c.751G>A (p.Val251Ile)	SNV Germline	Chr5:1294135	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Condition: not provided	Criteria Provided Conflicting Classifications	CA3184920	rs_776569822	2 SubmittersRCV003103822 RCV003328616
NM_198253.3(TERT):c.189G>A (p.Arg63=)	SNV Germline	Chr5:1294801	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Aplastic anemia Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA443005624	rs_1554043134	3 SubmittersRCV001153059 RCV001153060 RCV001153061 RCV002530518 RCV004559306
NM_198253.3(TERT):c.1526C>T (p.Thr509Met)	SNV Germline	Chr5:1293360	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA359085170	rs_1554042799	2 SubmittersRCV002533362 RCV004559276
NM_198253.3(TERT):c.569C>T (p.Ala190Val)	SNV Germline	Chr5:1294317	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Condition: not provided	Criteria Provided Conflicting Classifications	CA3184954	rs_781435225	4 SubmittersRCV001334733 RCV002533389 RCV003325507
NM_002582.4(PARN):c.1843A>G (p.Lys615Glu)	SNV Germline	Chr16:14446909	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal recessive 6 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 Condition: not provided PARN-related disorder	Criteria Provided Conflicting Classifications	CA7911921	rs_368440052	3 SubmittersRCV000653142 RCV001756104 RCV004547823
NM_002582.4(PARN):c.272A>G (p.Tyr91Cys)	SNV Germline	Chr16:14627161	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal recessive 6 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 Dyskeratosis congenita, autosomal recessive 6 not specified Condition: not provided Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 PARN-related disorder	Criteria Provided Conflicting Classifications	CA7912470	rs_201765587	6 SubmittersRCV000653141 RCV000850488 RCV001816642 RCV002223900 RCV003447549 RCV003994067
NM_001082486.2(ACD):c.613A>G (p.Thr205Ala)	SNV Germline	Chr16:67658960	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 6 Condition: not provided not specified ACD-related disorder	Criteria Provided Conflicting Classifications	CA8114609	rs_139438549	6 SubmittersRCV000652840 RCV003237977 RCV001816641 RCV003953202
NM_025099.6(CTC1):c.3515-10C>T	SNV Germline	Chr17:8228329	Conflicting classifications of pathogenicity	Dyskeratosis congenita Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA8371726	rs_200225342	4 SubmittersRCV000634511 RCV001702823 RCV001816575
NM_025099.6(CTC1):c.2758+1G>T	SNV Germline	Chr17:8230562	Pathogenic/Likely pathogenic	Cerebroretinal microangiopathy with calcifications and cysts 1 Dyskeratosis congenita	Criteria Provided Multiple Submitters No Conflicts	CA8371986	rs_200609323	3 SubmittersRCV000763024 RCV000634497
NM_025099.6(CTC1):c.195T>C (p.Tyr65=)	SNV Germline	Chr17:8242987	Conflicting classifications of pathogenicity	Dyskeratosis congenita Cerebroretinal microangiopathy with calcifications and cysts 1	Criteria Provided Conflicting Classifications	CA8372697	rs_764616648	4 SubmittersRCV000634507 RCV001807312
NM_025099.6(CTC1):c.2461G>T (p.Ala821Ser)	SNV Germline	Chr17:8231740	Conflicting classifications of pathogenicity	Dyskeratosis congenita Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8372077	rs_771475755	2 SubmittersRCV000634494 RCV003258894
NM_025099.6(CTC1):c.1981G>A (p.Val661Ile)	SNV Germline	Chr17:8232440	Conflicting classifications of pathogenicity	Dyskeratosis congenita Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8372209	rs_534923467	2 SubmittersRCV000634504 RCV004025447
NM_001283009.2(RTEL1):c.2444G>T (p.Ser815Ile)	SNV Germline	Chr20:63690835	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal recessive 5 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Condition: not provided Dyskeratosis congenita RTEL1-related disorder	Criteria Provided Conflicting Classifications	CA9965365	rs_150461578	7 SubmittersRCV000651133 RCV001092639 RCV002257910 RCV004533410
NM_001283009.2(RTEL1):c.535G>T (p.Glu179Ter)	SNV Germline	Chr20:63662886	Pathogenic	Dyskeratosis congenita, autosomal recessive 5 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3	Criteria Provided Single Submitter	CA409670086	rs_1555899932	1 SubmittersRCV000651087
NM_001283009.2(RTEL1):c.2678C>T (p.Thr893Met)	SNV Germline	Chr20:63692830	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal recessive 5 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Dyskeratosis congenita not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA9965497	rs_141717966	4 SubmittersRCV000651138 RCV002257911 RCV003151123 RCV003327441
NM_001283009.2(RTEL1):c.959T>C (p.Met320Thr)	SNV Germline	Chr20:63678268	Conflicting classifications of pathogenicity	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Dyskeratosis congenita, autosomal recessive 5 Condition: not provided Dyskeratosis congenita not specified	Criteria Provided Conflicting Classifications	CA9964545	rs_143550996	6 SubmittersRCV000651112 RCV001564499 RCV001276035 RCV003151119
NM_198253.3(TERT):c.1843G>A (p.Ala615Thr)	SNV Germline	Chr5:1280265	Conflicting classifications of pathogenicity	Condition: not provided not specified Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications		rs_112614087	3 SubmittersRCV000659010 RCV001816660 RCV002534308
NM_001283009.2(RTEL1):c.1037+1G>T	SNV Unknown	Chr20:63678347	Likely pathogenic	Dyskeratosis congenita, autosomal recessive 5	Criteria Provided Multiple Submitters No Conflicts		rs_895722334	2 SubmittersRCV000669234
NM_001283009.2(RTEL1):c.2851+1G>T	SNV Unknown	Chr20:63693004	Likely pathogenic	Dyskeratosis congenita, autosomal recessive 5	Criteria Provided Multiple Submitters No Conflicts		rs_1421904176	2 SubmittersRCV000674227
NM_001283009.2(RTEL1):c.2892T>G (p.Phe964Leu)	SNV Germline	Chr20:63693183	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal recessive 5 Dyskeratosis congenita, autosomal recessive 5 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Dyskeratosis congenita RTEL1-related disorder	Criteria Provided Conflicting Classifications		rs_1470145133	5 SubmittersRCV000669062 RCV001217029 RCV003323669 RCV004535683
NM_001283009.2(RTEL1):c.396-74A>C	SNV Unknown	Chr20:63662472	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal recessive 5	Criteria Provided Conflicting Classifications		rs_1555899773	2 SubmittersRCV000672502
NM_001283009.2(RTEL1):c.1596-1G>A	SNV Germline	Chr20:63688138	Likely pathogenic	Dyskeratosis congenita, autosomal recessive 5 Dyskeratosis congenita, autosomal recessive 5 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3	Criteria Provided Multiple Submitters No Conflicts		rs_1555811386	2 SubmittersRCV000667674 RCV002530720
NM_001283009.2(RTEL1):c.525C>A (p.Tyr175Ter)	SNV Unknown	Chr20:63662876	Likely pathogenic	Dyskeratosis congenita, autosomal recessive 5	Criteria Provided Single Submitter		rs_1161373315	1 SubmittersRCV000671264
NM_001283009.2(RTEL1):c.2614C>T (p.Arg872Ter)	SNV Germline	Chr20:63691799	Pathogenic/Likely pathogenic	Dyskeratosis congenita, autosomal recessive 5 Dyskeratosis congenita, autosomal recessive 5 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 RTEL1-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_961593162	5 SubmittersRCV000669629 RCV000763060 RCV004535684
NM_001283009.2(RTEL1):c.2881A>T (p.Lys961Ter)	SNV Germline	Chr20:63693172	Pathogenic/Likely pathogenic	Dyskeratosis congenita, autosomal recessive 5 Dyskeratosis congenita, autosomal recessive 5 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3	Criteria Provided Multiple Submitters No Conflicts		rs_1555813144	2 SubmittersRCV000666445 RCV003767949
NM_001283009.2(RTEL1):c.3130C>T (p.Gln1044Ter)	SNV Germline	Chr20:63694761	Pathogenic/Likely pathogenic	Dyskeratosis congenita, autosomal recessive 5 Abnormality of blood and blood-forming tissues	Criteria Provided Multiple Submitters No Conflicts		rs_1415449695	2 SubmittersRCV000667410 RCV001814212
NM_001283009.2(RTEL1):c.3344-2A>G	SNV Unknown	Chr20:63695064	Likely pathogenic	Dyskeratosis congenita, autosomal recessive 5	Criteria Provided Single Submitter		rs_980695424	1 SubmittersRCV000669994
NM_001283009.2(RTEL1):c.3376C>T (p.Gln1126Ter)	SNV Unknown	Chr20:63695098	Likely pathogenic	Dyskeratosis congenita, autosomal recessive 5	Criteria Provided Multiple Submitters No Conflicts		rs_778734749	2 SubmittersRCV000672496
NM_001283009.2(RTEL1):c.3665G>T (p.Gly1222Val)	SNV Germline	Chr20:63695493	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal recessive 5 Condition: not provided Dyskeratosis congenita, autosomal recessive 5 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3	Criteria Provided Conflicting Classifications		rs_1177347580	3 SubmittersRCV000673607 RCV000997811 RCV002531340
NM_001283009.2(RTEL1):c.630C>A (p.Tyr210Ter)	SNV Unknown	Chr20:63667484	Likely pathogenic	Dyskeratosis congenita, autosomal recessive 5	Criteria Provided Single Submitter		rs_1555901000	1 SubmittersRCV000670722
NM_001283009.2(RTEL1):c.649C>T (p.Gln217Ter)	SNV Germline	Chr20:63667503	Pathogenic/Likely pathogenic	Dyskeratosis congenita, autosomal recessive 5 Dyskeratosis congenita, autosomal recessive 5 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3	Criteria Provided Multiple Submitters No Conflicts		rs_780546933	4 SubmittersRCV000674750 RCV001855614
NM_001283009.2(RTEL1):c.2260C>T (p.Arg754Ter)	SNV Germline	Chr20:63690205	Pathogenic/Likely pathogenic	Dyskeratosis congenita, autosomal recessive 5 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Dyskeratosis congenita, autosomal recessive 5	Criteria Provided Multiple Submitters No Conflicts		rs_377024903	3 SubmittersRCV000667829 RCV001384643
NM_001283009.2(RTEL1):c.2265+2T>A	SNV Unknown	Chr20:63690212	Likely pathogenic	Dyskeratosis congenita, autosomal recessive 5	Criteria Provided Single Submitter		rs_1555811966	1 SubmittersRCV000671417
NM_001283009.2(RTEL1):c.2414-2A>G	SNV Unknown	Chr20:63690803	Likely pathogenic	Dyskeratosis congenita, autosomal recessive 5	Criteria Provided Single Submitter		rs_1555812178	1 SubmittersRCV000672386
NM_001283009.2(RTEL1):c.2653-2A>C	SNV Unknown	Chr20:63692803	Likely pathogenic	Dyskeratosis congenita, autosomal recessive 5	Criteria Provided Single Submitter		rs_1555812834	1 SubmittersRCV000674721
NM_001283009.2(RTEL1):c.3110-2A>C	SNV Germline	Chr20:63694739	Likely pathogenic	Dyskeratosis congenita, autosomal recessive 5 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Dyskeratosis congenita, autosomal recessive 5 Dyskeratosis congenita	Criteria Provided Multiple Submitters No Conflicts		rs_377461417	4 SubmittersRCV000665184 RCV001377425 RCV001829829
NM_001283009.2(RTEL1):c.3110-2A>T	SNV Germline	Chr20:63694739	Pathogenic/Likely pathogenic	Dyskeratosis congenita, autosomal recessive 5 Dyskeratosis congenita, autosomal recessive 5 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Dyskeratosis congenita	Criteria Provided Multiple Submitters No Conflicts		rs_377461417	4 SubmittersRCV000667028 RCV001210219 RCV001829840
NM_198253.3(TERT):c.1450G>C (p.Glu484Gln)	SNV Germline	Chr5:1293436	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_1561213355	2 SubmittersRCV002533479 RCV004559621
NM_198253.3(TERT):c.702G>C (p.Leu234Phe)	SNV Germline	Chr5:1294184	Conflicting classifications of pathogenicity	Dyskeratosis congenita Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Conflicting Classifications		rs_754359147	3 SubmittersRCV001775147 RCV002532334
NM_198253.3(TERT):c.553C>T (p.Arg185Trp)	SNV Germline	Chr5:1294333	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_770436206	3 SubmittersRCV002544769 RCV003388593 RCV004559353
NM_198253.3(TERT):c.180G>A (p.Trp60Ter)	SNV Germline	Chr5:1294810	Pathogenic	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Single Submitter		rs_1554043139	1 SubmittersRCV002544806
NM_017838.4(NHP2):c.143A>G (p.Tyr48Cys)	SNV Germline	Chr5:178153675	Conflicting classifications of pathogenicity	Dyskeratosis congenita Condition: not provided	Criteria Provided Conflicting Classifications		rs_200150979	2 SubmittersRCV000704403 RCV002508251
NM_198253.3(TERT):c.2591T>C (p.Leu864Pro)	SNV Germline	Chr5:1266527	Conflicting classifications of pathogenicity	not specified Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Telomere syndrome	Criteria Provided Conflicting Classifications		rs_1561194110	3 SubmittersRCV001816730 RCV002533689 RCV003325408
NM_198253.3(TERT):c.2432G>A (p.Arg811His)	SNV Germline	Chr5:1271155	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Condition: not provided	Criteria Provided Conflicting Classifications		rs_552708120	2 SubmittersRCV002533539 RCV003222108
NM_198253.3(TERT):c.1025G>A (p.Arg342Gln)	SNV Germline	Chr5:1293861	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_773366454	2 SubmittersRCV002547117 RCV004559356
NM_198253.3(TERT):c.3116C>T (p.Thr1039Met)	SNV Germline	Chr5:1255328	Conflicting classifications of pathogenicity	Dyskeratosis congenita Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Conflicting Classifications		rs_763381198	2 SubmittersRCV002256472 RCV002531489
NM_198253.3(TERT):c.2263G>A (p.Val755Ile)	SNV Germline	Chr5:1278664	Conflicting classifications of pathogenicity	Aplastic anemia Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Dyskeratosis congenita, autosomal dominant 2 not specified Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Conflicting Classifications		rs_576633619	4 SubmittersRCV001151511 RCV001151512 RCV001151513 RCV001816702 RCV002547120
NM_198253.3(TERT):c.554G>T (p.Arg185Leu)	SNV Germline	Chr5:1294332	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_749187042	2 SubmittersRCV002534379 RCV004559625
NM_002582.4(PARN):c.466G>T (p.Ala156Ser)	SNV Germline	Chr16:14610732	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal recessive 6 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 not specified Dyskeratosis congenita, autosomal recessive 6 Condition: not provided	Criteria Provided Conflicting Classifications		rs_200103366	4 SubmittersRCV000689559 RCV001816705 RCV001335956 RCV003420224
NM_025099.6(CTC1):c.3049C>T (p.Gln1017Ter)	SNV Germline	Chr17:8229409	Pathogenic	Dyskeratosis congenita	Criteria Provided Single Submitter		rs_1567599296	1 SubmittersRCV000699292
NM_025099.6(CTC1):c.1186C>T (p.Arg396Ter)	SNV Germline	Chr17:8235851	Pathogenic	Dyskeratosis congenita	Criteria Provided Single Submitter		rs_764019241	1 SubmittersRCV000699564
NM_001363.5(DKC1):c.149C>A (p.Ser50Tyr)	SNV Germline	ChrX:154765508	Likely pathogenic	Dyskeratosis congenita	Criteria Provided Single Submitter		rs_1569558474	1 SubmittersRCV000696342
NM_001363.5(DKC1):c.622G>A (p.Asp208Asn)	SNV Germline	ChrX:154767364	Conflicting classifications of pathogenicity	Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_374771308	2 SubmittersRCV000687325
NM_025099.6(CTC1):c.277C>T (p.Gln93Ter)	SNV Germline	Chr17:8238550	Pathogenic	Dyskeratosis congenita	Criteria Provided Single Submitter		rs_767991627	1 SubmittersRCV000704293
NM_001363.5(DKC1):c.1456G>A (p.Gly486Arg)	SNV Germline	ChrX:154776304	Conflicting classifications of pathogenicity	History of neurodevelopmental disorder Dyskeratosis congenita Condition: not provided not specified DKC1-related disorder	Criteria Provided Conflicting Classifications		rs_150319104	7 SubmittersRCV000721040 RCV000861992 RCV001573187 RCV001816790 RCV004026918
NM_025099.6(CTC1):c.3604C>T (p.Arg1202Ter)	SNV Germline	Chr17:8228230	Conflicting classifications of pathogenicity	Condition: not provided Dyskeratosis congenita Cerebroretinal microangiopathy with calcifications and cysts 1 not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_147714487	8 SubmittersRCV000732314 RCV001081646 RCV001330034 RCV001816802 RCV004027034
NM_001134225.2(INPP4A):c.36C>T (p.Ala12=)	SNV Germline	Chr2:98520084	Likely pathogenic	Dyskeratosis congenita, autosomal dominant 1	Criteria Provided Single Submitter		rs_1306444586	1 SubmittersRCV000761361
NM_001283009.2(RTEL1):c.732G>A (p.Gly244=)	SNV Germline	Chr20:63672588	Conflicting classifications of pathogenicity	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Dyskeratosis congenita, autosomal recessive 5	Criteria Provided Conflicting Classifications		rs_919917378	2 SubmittersRCV000768303
NM_001283009.2(RTEL1):c.3343+8G>A	SNV Germline	Chr20:63694982	Conflicting classifications of pathogenicity	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Dyskeratosis congenita, autosomal recessive 5	Criteria Provided Conflicting Classifications		rs_768036242	2 SubmittersRCV000768304
NM_025099.6(CTC1):c.2923A>G (p.Arg975Gly)	SNV Germline	Chr17:8230304	Conflicting classifications of pathogenicity	Cerebroretinal microangiopathy with calcifications and cysts 1 Condition: not provided Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_199473678	6 SubmittersRCV000778131 RCV001560718 RCV001869130
NM_198253.3(TERT):c.2839T>C (p.Ser947Pro)	SNV Germline	Chr5:1264408	Pathogenic	Dyskeratosis congenita	No Assertion Criteria Provided		rs_915854031	1 SubmittersRCV000786862
NM_198253.3(TERT):c.3346G>A (p.Glu1116Lys)	SNV Germline	Chr5:1253781	Conflicting classifications of pathogenicity	TERT-related disorder Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_1196160200	3 SubmittersRCV004540104 RCV002534659 RCV004559670
NM_198253.3(TERT):c.3323C>T (p.Pro1108Leu)	SNV Germline	Chr5:1253804	Conflicting classifications of pathogenicity	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Aplastic anemia Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Condition: not provided	Criteria Provided Conflicting Classifications		rs_376255453	4 SubmittersRCV001152719 RCV001152717 RCV001152718 RCV002534874 RCV003233860
NM_198253.3(TERT):c.3310A>T (p.Ser1104Cys)	SNV Germline	Chr5:1253817	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_1579541768	2 SubmittersRCV002534746 RCV004559675
NM_198253.3(TERT):c.3187G>A (p.Gly1063Ser)	SNV Germline	Chr5:1254476	Likely pathogenic	Condition: not provided Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Pulmonary fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Multiple Submitters No Conflicts		rs_938938578	4 SubmittersRCV002508262 RCV002534853 RCV002509553 RCV004569706
NM_198253.3(TERT):c.2449G>A (p.Ala817Thr)	SNV Germline	Chr5:1271138	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications		rs_778051907	3 SubmittersRCV002534756 RCV004559676 RCV004569603
NM_198253.3(TERT):c.2248G>A (p.Ala750Thr)	SNV Germline	Chr5:1278679	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_1579574831	2 SubmittersRCV002535502 RCV004559700
NM_198253.3(TERT):c.2221G>T (p.Val741Leu)	SNV Germline	Chr5:1278706	Conflicting classifications of pathogenicity	not specified Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications		rs_150819225	3 SubmittersRCV001816876 RCV002537289 RCV004569650
NM_198253.3(TERT):c.2108C>T (p.Pro703Leu)	SNV Germline	Chr5:1279313	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_564647937	3 SubmittersRCV001250511 RCV002537414 RCV004559695
NM_198253.3(TERT):c.2105C>T (p.Pro702Leu)	SNV Germline	Chr5:1279316	Likely pathogenic	Pulmonary fibrosis Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Single Submitter		rs_754809046	2 SubmittersRCV002509550 RCV002538055
NM_198253.3(TERT):c.2053G>A (p.Asp685Asn)	SNV Germline	Chr5:1279368	Likely pathogenic	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Single Submitter		rs_1579575848	1 SubmittersRCV002535497
NM_198253.3(TERT):c.1864C>T (p.Arg622Cys)	SNV Germline	Chr5:1280244	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Condition: not provided	Criteria Provided Conflicting Classifications		rs_1579577192	2 SubmittersRCV002534884 RCV003229867
NM_198253.3(TERT):c.1692G>A (p.Thr564=)	SNV Germline	Chr5:1282506	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Condition: not provided TERT-related disorder	Criteria Provided Conflicting Classifications		rs_377217777	3 SubmittersRCV002538048 RCV003432774 RCV004528305
NM_198253.3(TERT):c.1552G>T (p.Ala518Ser)	SNV Germline	Chr5:1293334	Conflicting classifications of pathogenicity	Dyskeratosis congenita Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Conflicting Classifications		rs_551522837	3 SubmittersRCV002256553 RCV003103847
NM_198253.3(TERT):c.1450G>T (p.Glu484Ter)	SNV Germline	Chr5:1293436	Pathogenic	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Single Submitter		rs_1561213355	1 SubmittersRCV002538152
NM_198253.3(TERT):c.1323G>T (p.Glu441Asp)	SNV Germline	Chr5:1293563	Conflicting classifications of pathogenicity	Dyskeratosis congenita Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications		rs_1213914911	2 SubmittersRCV004559663 RCV002534602
NM_198253.3(TERT):c.895G>A (p.Val299Met)	SNV Germline	Chr5:1293991	Conflicting classifications of pathogenicity	7 conditions Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications		rs_756624928	2 SubmittersRCV002477800 RCV002536948
NM_198253.3(TERT):c.737C>T (p.Pro246Leu)	SNV Germline	Chr5:1294149	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_377315722	2 SubmittersRCV002535442 RCV004559696
NM_198253.3(TERT):c.719G>A (p.Arg240His)	SNV Germline	Chr5:1294167	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_751231538	2 SubmittersRCV002535469 RCV004559698
NM_198253.3(TERT):c.688C>T (p.Arg230Ter)	SNV Germline	Chr5:1294198	Pathogenic	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Single Submitter		rs_989271195	1 SubmittersRCV002538017
NM_198253.3(TERT):c.567C>A (p.His189Gln)	SNV Germline	Chr5:1294319	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Condition: not provided Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_747935528	3 SubmittersRCV002538019 RCV003332255 RCV004559667
NM_198253.3(TERT):c.566A>G (p.His189Arg)	SNV Germline	Chr5:1294320	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_769638625	2 SubmittersRCV002537390 RCV004559691
NM_001099274.3(TINF2):c.1307C>T (p.Ala436Val)	SNV Germline	Chr14:24239846	Conflicting classifications of pathogenicity	Dyskeratosis congenita Revesz syndrome Dyskeratosis congenita, autosomal dominant 3	Criteria Provided Conflicting Classifications		rs_369249473	3 SubmittersRCV000819774 RCV001109555 RCV001109556
NM_001099274.3(TINF2):c.28G>T (p.Ala10Ser)	SNV Germline	Chr14:24242305	Conflicting classifications of pathogenicity	Dyskeratosis congenita TINF2-related disorder	Criteria Provided Conflicting Classifications		rs_746625511	2 SubmittersRCV000795300 RCV003892709
NM_025099.6(CTC1):c.2828C>T (p.Pro943Leu)	SNV Germline	Chr17:8230399	Conflicting classifications of pathogenicity	Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_376216833	2 SubmittersRCV000794761
NM_025099.6(CTC1):c.2291A>G (p.Tyr764Cys)	SNV Germline	Chr17:8231997	Conflicting classifications of pathogenicity	Dyskeratosis congenita Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_376729433	2 SubmittersRCV000799830 RCV002537114
NM_025099.6(CTC1):c.2278G>A (p.Ala760Thr)	SNV Germline	Chr17:8232010	Conflicting classifications of pathogenicity	Dyskeratosis congenita Cerebroretinal microangiopathy with calcifications and cysts 1	Criteria Provided Conflicting Classifications		rs_139078502	4 SubmittersRCV000807547 RCV001197513
NM_025099.6(CTC1):c.833G>T (p.Gly278Val)	SNV Germline	Chr17:8236302	Conflicting classifications of pathogenicity	Dyskeratosis congenita Cerebroretinal microangiopathy with calcifications and cysts 1 Condition: not provided not specified	Criteria Provided Conflicting Classifications		rs_768853291	6 SubmittersRCV000817639 RCV001807347 RCV001281621 RCV003323734
NM_025099.6(CTC1):c.391G>A (p.Gly131Arg)	SNV Germline	Chr17:8238436	Conflicting classifications of pathogenicity	Dyskeratosis congenita Cerebroretinal microangiopathy with calcifications and cysts 1	Criteria Provided Conflicting Classifications		rs_200137992	3 SubmittersRCV000820755 RCV001270120
NM_001283009.2(RTEL1):c.1301C>T (p.Thr434Met)	SNV Germline	Chr20:63685825	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal recessive 5 Dyskeratosis congenita, autosomal recessive 5 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Dyskeratosis congenita Condition: not provided RTEL1-related disorder	Criteria Provided Conflicting Classifications		rs_77086616	9 SubmittersRCV000990340 RCV000795835 RCV001835962 RCV001508902 RCV004538091
NM_001283009.2(RTEL1):c.2915C>T (p.Thr972Ile)	SNV Germline	Chr20:63693206	Conflicting classifications of pathogenicity	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Dyskeratosis congenita, autosomal recessive 5 Dyskeratosis congenita Condition: not provided RTEL1-related disorder	Criteria Provided Conflicting Classifications		rs_199834369	5 SubmittersRCV000813926 RCV001825634 RCV003132082 RCV004538117
NM_001283009.2(RTEL1):c.2921G>A (p.Arg974Gln)	SNV Germline	Chr20:63693212	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal recessive 5 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Dyskeratosis congenita Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_369716125	3 SubmittersRCV000807655 RCV001273628 RCV004028621
NM_001283009.2(RTEL1):c.3422C>T (p.Pro1141Leu)	SNV Germline	Chr20:63695144	Conflicting classifications of pathogenicity	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Dyskeratosis congenita, autosomal recessive 5 Condition: not provided Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications		rs_201682415	6 SubmittersRCV000815059 RCV001560182 RCV003307522 RCV003489905
NM_002582.4(PARN):c.702+5C>T	SNV Germline	Chr16:14606479	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal recessive 6 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 not specified	Criteria Provided Conflicting Classifications		rs_368739970	2 SubmittersRCV000808913 RCV001816878
NM_198253.3(TERT):c.1590G>C (p.Pro530=)	SNV Germline	Chr5:1282608	Conflicting classifications of pathogenicity	not specified Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications		rs_1396912668	2 SubmittersRCV000826056 RCV003768563
NM_001363.5(DKC1):c.1167G>A (p.Lys389=)	SNV Germline	ChrX:154774613	Conflicting classifications of pathogenicity	Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_369066088	2 SubmittersRCV001440717
NM_198253.3(TERT):c.3267C>T (p.Tyr1089=)	SNV Germline	Chr5:1254396	Conflicting classifications of pathogenicity	not specified Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita TERT-related disorder Condition: not provided	Criteria Provided Conflicting Classifications		rs_759883263	6 SubmittersRCV001816988 RCV002539055 RCV002256570 RCV004538288 RCV004569802
NM_025099.6(CTC1):c.3498G>A (p.Ser1166=)	SNV Germline	Chr17:8228519	Conflicting classifications of pathogenicity	Dyskeratosis congenita Cerebroretinal microangiopathy with calcifications and cysts 1	Criteria Provided Conflicting Classifications		rs_369209127	3 SubmittersRCV000866336 RCV001807366
NM_025099.6(CTC1):c.24C>A (p.Val8=)	SNV Germline	Chr17:8248013	Conflicting classifications of pathogenicity	Condition: not provided Dyskeratosis congenita Cerebroretinal microangiopathy with calcifications and cysts 1	Criteria Provided Conflicting Classifications		rs_749818659	3 SubmittersRCV000865988 RCV001448256 RCV001807365
NM_198253.3(TERT):c.2469-9C>T	SNV Germline	Chr5:1268642	Conflicting classifications of pathogenicity	Dyskeratosis congenita Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications		rs_764029536	2 SubmittersRCV002258012 RCV002538978
NM_025099.6(CTC1):c.1946-6C>T	SNV Germline	Chr17:8232481	Conflicting classifications of pathogenicity	Dyskeratosis congenita Cerebroretinal microangiopathy with calcifications and cysts 1	Criteria Provided Conflicting Classifications		rs_369285521	3 SubmittersRCV001122624 RCV001807367
NM_198253.3(TERT):c.2187C>T (p.Ile729=)	SNV Germline	Chr5:1278740	Conflicting classifications of pathogenicity	not specified TERT-related disorder Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_200819224	4 SubmittersRCV001817036 RCV004530847 RCV002539221 RCV004559753
NM_025099.6(CTC1):c.1548G>A (p.Pro516=)	SNV Germline	Chr17:8234818	Conflicting classifications of pathogenicity	Dyskeratosis congenita Cerebroretinal microangiopathy with calcifications and cysts 1 Condition: not provided	Criteria Provided Conflicting Classifications		rs_781000475	5 SubmittersRCV000877422 RCV001807369 RCV002264038
NM_198253.3(TERT):c.3296-5C>T	SNV Germline	Chr5:1253836	Conflicting classifications of pathogenicity	not specified Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications		rs_371015305	2 SubmittersRCV001817041 RCV002540025
NM_001283009.2(RTEL1):c.489C>T (p.Cys163=)	SNV Germline	Chr20:63662840	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal recessive 5 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Condition: not provided Inborn genetic diseases Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_142058793	5 SubmittersRCV000966294 RCV002066393 RCV004029924 RCV001275074
NM_001283009.2(RTEL1):c.2428G>A (p.Gly810Arg)	SNV Germline	Chr20:63690819	Conflicting classifications of pathogenicity	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Dyskeratosis congenita, autosomal recessive 5 Dyskeratosis congenita Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_545613984	5 SubmittersRCV000883354 RCV001277142 RCV002284449 RCV003169225
NM_001283009.2(RTEL1):c.2810C>T (p.Pro937Leu)	SNV Germline	Chr20:63692962	Conflicting classifications of pathogenicity	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Dyskeratosis congenita, autosomal recessive 5 Dyskeratosis congenita Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications		rs_140986557	5 SubmittersRCV000887579 RCV001277148 RCV002434180 RCV003328638
NM_001283009.2(RTEL1):c.2824G>A (p.Asp942Asn)	SNV Germline	Chr20:63692976	Conflicting classifications of pathogenicity	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Dyskeratosis congenita, autosomal recessive 5 Dyskeratosis congenita RTEL1-related disorder	Criteria Provided Conflicting Classifications		rs_116247954	4 SubmittersRCV000881683 RCV001830933 RCV004530903
NM_001283009.2(RTEL1):c.94C>T (p.Leu32=)	SNV Germline	Chr20:63659496	Conflicting classifications of pathogenicity	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Dyskeratosis congenita, autosomal recessive 5 Inborn genetic diseases Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_375849124	3 SubmittersRCV000897034 RCV002372522 RCV002258030
NM_002582.4(PARN):c.1874C>T (p.Ser625Leu)	SNV Germline	Chr16:14436763	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal recessive 6 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_201963032	3 SubmittersRCV000914382 RCV001818850 RCV003169295
NM_001143992.2(WRAP53):c.720A>G (p.Pro240=)	SNV Germline	Chr17:7700818	Conflicting classifications of pathogenicity	Condition: not provided Dyskeratosis congenita, autosomal recessive 3 Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_199901527	3 SubmittersRCV000920723 RCV001123320 RCV002372558
NM_001143992.2(WRAP53):c.1521C>T (p.His507=)	SNV Germline	Chr17:7703360	Conflicting classifications of pathogenicity	Condition: not provided Dyskeratosis congenita, autosomal recessive 3 Dyskeratosis congenita WRAP53-related disorder	Criteria Provided Conflicting Classifications		rs_146651237	5 SubmittersRCV000919316 RCV001125416 RCV002390916 RCV003933091
NM_198253.3(TERT):c.3042A>T (p.Ala1014=)	SNV Germline	Chr5:1255402	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Interstitial lung disease 2 Condition: not provided	Criteria Provided Conflicting Classifications		rs_1337149388	2 SubmittersRCV001450735 RCV003329351
NM_001082486.2(ACD):c.493+7T>C	SNV Germline	Chr16:67659222	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 6 not specified Condition: not provided	Criteria Provided Conflicting Classifications		rs_199626332	3 SubmittersRCV000944739 RCV002268374 RCV003456459
NM_001283009.2(RTEL1):c.1266+9C>T	SNV Germline	Chr20:63685606	Conflicting classifications of pathogenicity	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Dyskeratosis congenita, autosomal recessive 5 RTEL1-related disorder	Criteria Provided Conflicting Classifications		rs_1601156030	2 SubmittersRCV001491895 RCV004533606
NM_001363.5(DKC1):c.915+10G>A	SNV Germline	ChrX:154769320	Conflicting classifications of pathogenicity	Condition: not provided not specified Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_1603429509	4 SubmittersRCV000933136 RCV001818904 RCV002066121
NM_001283009.2(RTEL1):c.396-27T>C	SNV Germline	Chr20:63662519	Conflicting classifications of pathogenicity	Condition: not provided Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Dyskeratosis congenita, autosomal recessive 5 Dyskeratosis congenita RTEL1-related disorder	Criteria Provided Conflicting Classifications		rs_774523585	4 SubmittersRCV000978133 RCV001493570 RCV001832254 RCV004535990
NM_001283009.2(RTEL1):c.3407C>G (p.Thr1136Ser)	SNV Germline	Chr20:63695129	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal recessive 5 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_150686112	3 SubmittersRCV000976461 RCV001272199
NM_002582.4(PARN):c.692A>G (p.Glu231Gly)	SNV Germline	Chr16:14606494	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal recessive 6 Dyskeratosis congenita, autosomal recessive 6 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4	Criteria Provided Conflicting Classifications		rs_757910862	2 SubmittersRCV000989539 RCV001214004
NM_001283009.2(RTEL1):c.2992+8G>A	SNV Germline	Chr20:63693291	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal recessive 5 Dyskeratosis congenita, autosomal recessive 5 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3	Criteria Provided Conflicting Classifications		rs_1236751268	2 SubmittersRCV000990341 RCV001490728
NM_198253.3(TERT):c.3251G>A (p.Arg1084Gln)	SNV Germline	Chr5:1254412	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_765787352	2 SubmittersRCV002554514 RCV004559893
NM_198253.3(TERT):c.2852G>A (p.Arg951Gln)	SNV Germline	Chr5:1260592	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_755707625	2 SubmittersRCV002552581 RCV004559859
NM_198253.3(TERT):c.2851C>T (p.Arg951Trp)	SNV Germline	Chr5:1260593	Conflicting classifications of pathogenicity	Interstitial lung disease 2 Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis TERT-related disorder Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_370445231	4 SubmittersRCV002253765 RCV002551377 RCV004536066 RCV004559843
NM_198253.3(TERT):c.2704A>T (p.Lys902Ter)	SNV Germline	Chr5:1264543	Pathogenic	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Single Submitter		rs_1748461171	1 SubmittersRCV002554599
NM_198253.3(TERT):c.2145C>T (p.Gly715=)	SNV Germline	Chr5:1278782	Conflicting classifications of pathogenicity	Melanoma, cutaneous malignant, susceptibility to, 9 Dyskeratosis congenita Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Conflicting Classifications		rs_769467251	4 SubmittersRCV002290572 RCV002258103 RCV002552631
NM_198253.3(TERT):c.2015G>A (p.Arg672His)	SNV Germline	Chr5:1279406	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications		rs_1353891039	2 SubmittersRCV002553072 RCV003473622
NM_198253.3(TERT):c.1743G>A (p.Trp581Ter)	SNV Germline	Chr5:1282455	Pathogenic	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Single Submitter		rs_1750086002	1 SubmittersRCV003103904
NM_198253.3(TERT):c.1580G>T (p.Gly527Val)	SNV Germline	Chr5:1282618	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_1006357203	2 SubmittersRCV002555892 RCV004559900
NM_198253.3(TERT):c.1438T>C (p.Ser480Pro)	SNV Germline	Chr5:1293448	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_917650159	2 SubmittersRCV002553196 RCV004559863
NM_198253.3(TERT):c.1434G>A (p.Trp478Ter)	SNV Germline	Chr5:1293452	Pathogenic	Dyskeratosis congenita, autosomal dominant 2 Interstitial lung disease 2	Criteria Provided Single Submitter		rs_1751122711	1 SubmittersRCV001045523
NM_198253.3(TERT):c.1339C>T (p.Arg447Cys)	SNV Germline	Chr5:1293547	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications		rs_1304418053	2 SubmittersRCV002552511 RCV003467728
NM_198253.3(TERT):c.976G>A (p.Ala326Thr)	SNV Germline	Chr5:1293910	Conflicting classifications of pathogenicity	Condition: not provided Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_1030156757	3 SubmittersRCV002298867 RCV002555899 RCV004559901
NM_198253.3(TERT):c.820T>A (p.Ser274Thr)	SNV Germline	Chr5:1294066	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_1751200603	2 SubmittersRCV002553844 RCV004559882
NM_198253.3(TERT):c.776C>T (p.Pro259Leu)	SNV Germline	Chr5:1294110	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_775613951	2 SubmittersRCV002553335 RCV004559875
NM_001099274.3(TINF2):c.318G>C (p.Lys106Asn)	SNV Germline	Chr14:24241756	Conflicting classifications of pathogenicity	Dyskeratosis congenita Dyskeratosis congenita, autosomal dominant 3 Revesz syndrome	Criteria Provided Conflicting Classifications		rs_765992492	2 SubmittersRCV001050305 RCV001109634 RCV001109635
NM_002582.4(PARN):c.657G>A (p.Trp219Ter)	SNV Germline	Chr16:14608283	Pathogenic	Dyskeratosis congenita, autosomal recessive 6 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4	Criteria Provided Single Submitter		rs_1363931577	1 SubmittersRCV001063256
NM_001082486.2(ACD):c.1148G>A (p.Arg383Gln)	SNV Germline	Chr16:67658044	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 6 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_200293827	2 SubmittersRCV001039741 RCV002391112
NM_025099.6(CTC1):c.2973T>G (p.Tyr991Ter)	SNV Germline	Chr17:8229929	Pathogenic	Dyskeratosis congenita	Criteria Provided Single Submitter		rs_62637613	1 SubmittersRCV001047461
NM_025099.6(CTC1):c.2960G>A (p.Arg987Gln)	SNV Germline	Chr17:8229942	Likely pathogenic	Dyskeratosis congenita	Criteria Provided Single Submitter		rs_769617113	1 SubmittersRCV001042422
NM_025099.6(CTC1):c.2737G>A (p.Ala913Thr)	SNV Germline	Chr17:8230584	Conflicting classifications of pathogenicity	Dyskeratosis congenita Inborn genetic diseases CTC1-related disorder	Criteria Provided Conflicting Classifications		rs_201203345	3 SubmittersRCV001059642 RCV002553867 RCV003963021
NM_025099.6(CTC1):c.2029A>G (p.Met677Val)	SNV Germline	Chr17:8232392	Conflicting classifications of pathogenicity	Dyskeratosis congenita Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_1987321255	2 SubmittersRCV001069650 RCV003372980
NM_025099.6(CTC1):c.1333C>T (p.Arg445Cys)	SNV Germline	Chr17:8235159	Conflicting classifications of pathogenicity	Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_201273283	2 SubmittersRCV001060950
NM_025099.6(CTC1):c.322C>T (p.Arg108Ter)	SNV Germline	Chr17:8238505	Pathogenic	Dyskeratosis congenita	Criteria Provided Single Submitter		rs_372031509	1 SubmittersRCV001044694
NM_001283009.2(RTEL1):c.361C>T (p.Gln121Ter)	SNV Germline	Chr20:63661909	Pathogenic	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Dyskeratosis congenita, autosomal recessive 5	Criteria Provided Single Submitter		rs_2090027846	1 SubmittersRCV001049521
NM_001283009.2(RTEL1):c.1606G>T (p.Glu536Ter)	SNV Germline	Chr20:63688149	Pathogenic	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Dyskeratosis congenita, autosomal recessive 5	Criteria Provided Single Submitter		rs_2090639016	1 SubmittersRCV001037577
NM_198253.3(TERT):c.2382+1G>C	SNV Germline	Chr5:1272184	Likely pathogenic	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Single Submitter		rs_1749089374	1 SubmittersRCV002552073
NM_001099274.3(TINF2):c.507+6G>A	SNV Germline	Chr14:24241198	Conflicting classifications of pathogenicity	Dyskeratosis congenita not specified TINF2-related disorder	Criteria Provided Conflicting Classifications		rs_142144996	3 SubmittersRCV001050306 RCV001819767 RCV003963010
NM_198253.3(TERT):c.2639C>T (p.Ala880Val)	SNV Germline	Chr5:1266479	Conflicting classifications of pathogenicity	Condition: not provided Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Conflicting Classifications		rs_1748613384	3 SubmittersRCV001093474 RCV002554874
NM_001099274.3(TINF2):c.253C>G (p.His85Asp)	SNV Germline	Chr14:24241934	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 3 Revesz syndrome Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_758462532	2 SubmittersRCV001109637 RCV001109636 RCV002555068
NM_001099274.3(TINF2):c.30A>G (p.Ala10=)	SNV Germline	Chr14:24242303	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 3 Revesz syndrome Dyskeratosis congenita not specified	Criteria Provided Conflicting Classifications		rs_779819186	3 SubmittersRCV001111934 RCV001111935 RCV001450600 RCV001819823
NM_001143992.2(WRAP53):c.330C>T (p.Asn110=)	SNV Germline	Chr17:7688978	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal recessive 3 Condition: not provided	Criteria Provided Conflicting Classifications		rs_150180394	2 SubmittersRCV001127390 RCV002070083
NM_025099.6(CTC1):c.2472C>T (p.Pro824=)	SNV Germline	Chr17:8231729	Conflicting classifications of pathogenicity	Dyskeratosis congenita not specified	Criteria Provided Conflicting Classifications		rs_558802130	3 SubmittersRCV001126289 RCV001819834
NM_025099.6(CTC1):c.2253A>G (p.Gly751=)	SNV Germline	Chr17:8232035	Conflicting classifications of pathogenicity	Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_1164794062	2 SubmittersRCV001128342
NM_001143992.2(WRAP53):c.432-15C>G	SNV Germline	Chr17:7689209	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal recessive 3 Condition: not provided	Criteria Provided Conflicting Classifications		rs_771063284	2 SubmittersRCV001123318 RCV003117770
NM_001143992.2(WRAP53):c.643-4A>G	SNV Germline	Chr17:7700737	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal recessive 3 Condition: not provided	Criteria Provided Conflicting Classifications		rs_770005848	2 SubmittersRCV001123319 RCV003736989
NM_025099.6(CTC1):c.2060+12G>A	SNV Germline	Chr17:8232349	Conflicting classifications of pathogenicity	Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_1987317835	2 SubmittersRCV001122622
NM_198253.3(TERT):c.1401C>T (p.Ala467=)	SNV Germline	Chr5:1293485	Conflicting classifications of pathogenicity	Aplastic anemia Dyskeratosis congenita, autosomal dominant 2 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_1751126189	3 SubmittersRCV001154650 RCV001154652 RCV001154651 RCV002557323 RCV004559907
NM_198253.3(TERT):c.696G>T (p.Leu232=)	SNV Germline	Chr5:1294190	Conflicting classifications of pathogenicity	Aplastic anemia Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Conflicting Classifications		rs_1033402019	2 SubmittersRCV001155588 RCV001155589 RCV001155587 RCV002559498
NM_198253.3(TERT):c.483G>C (p.Leu161=)	SNV Germline	Chr5:1294403	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Aplastic anemia Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Conflicting Classifications		rs_755155708	2 SubmittersRCV001153058 RCV001151814 RCV001151815 RCV002557276
NM_001363.5(DKC1):c.1195G>C (p.Asp399His)	SNV Germline	ChrX:154774641	Likely pathogenic	Dyskeratosis congenita, X-linked	Criteria Provided Single Submitter		rs_2071871731	1 SubmittersRCV001172399
NM_198253.3(TERT):c.230T>C (p.Leu77Pro)	SNV Germline	Chr5:1294656	Conflicting classifications of pathogenicity	Abnormal pulmonary interstitial morphology Condition: not provided Pulmonary fibrosis Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Conflicting Classifications		rs_1751271544	4 SubmittersRCV001172441 RCV001819874 RCV002509620 RCV003104009
NM_198253.3(TERT):c.2812C>T (p.Arg938Trp)	SNV Germline	Chr5:1264435	Likely pathogenic	Abnormal pulmonary interstitial morphology Macrocytic anemia Premature graying of hair Short telomere length Condition: not provided Pulmonary fibrosis Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Multiple Submitters No Conflicts		rs_1422814635	5 SubmittersRCV001172444 RCV001819875 RCV002509621 RCV002559651 RCV004559909
NM_198253.3(TERT):c.1891C>T (p.Arg631Trp)	SNV Germline	Chr5:1280217	Pathogenic/Likely pathogenic	Acute myeloid leukemia Condition: not provided Pulmonary fibrosis Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Multiple Submitters No Conflicts		rs_1194223999	5 SubmittersRCV001172450 RCV001819876 RCV002509622 RCV002558734 RCV004559910
NM_001363.5(DKC1):c.133G>A (p.Ala45Thr)	SNV Unknown	ChrX:154765492	Likely pathogenic	Dyskeratosis congenita, X-linked	Criteria Provided Single Submitter		rs_2071733846	1 SubmittersRCV001195949
NM_198253.3(TERT):c.2638G>A (p.Ala880Thr)	SNV Germline	Chr5:1266480	Pathogenic/Likely pathogenic	Condition: not provided Dyskeratosis congenita, autosomal dominant 2 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Multiple Submitters No Conflicts		rs_1748613571	4 SubmittersRCV001819918 RCV003150823 RCV003150824 RCV003770256
NM_025099.6(CTC1):c.2174C>G (p.Pro725Arg)	SNV Germline	Chr17:8232114	Conflicting classifications of pathogenicity	Dyskeratosis congenita Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_371046424	2 SubmittersRCV001220129 RCV002562498
NM_198253.3(TERT):c.3211C>T (p.Gln1071Ter)	SNV Germline	Chr5:1254452	Pathogenic	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Single Submitter		rs_1747568641	1 SubmittersRCV002561656
NM_198253.3(TERT):c.3001A>G (p.Ile1001Val)	SNV Germline	Chr5:1258629	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_1747930001	2 SubmittersRCV002561098 RCV004559922
NM_198253.3(TERT):c.1824G>T (p.Gln608His)	SNV Germline	Chr5:1280284	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Condition: not provided	Criteria Provided Conflicting Classifications		rs_769540249	2 SubmittersRCV003103930 RCV003324819
NM_198253.3(TERT):c.1292C>T (p.Pro431Leu)	SNV Germline	Chr5:1293594	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_1164823749	2 SubmittersRCV002561184 RCV004559926
NM_001099274.3(TINF2):c.793C>T (p.Arg265Ter)	SNV Germline	Chr14:24240687	Conflicting classifications of pathogenicity	Dyskeratosis congenita Condition: not provided TINF2-related disorder Long telomere syndrome	Criteria Provided Conflicting Classifications		rs_200320654	5 SubmittersRCV001212678 RCV001780129 RCV003405398 RCV004561955
NM_002582.4(PARN):c.709C>T (p.Arg237Ter)	SNV Germline	Chr16:14604220	Pathogenic	Dyskeratosis congenita, autosomal recessive 6 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_760506977	3 SubmittersRCV001201968 RCV001252646 RCV001819891
NM_025099.6(CTC1):c.19C>T (p.Gln7Ter)	SNV Germline	Chr17:8248018	Pathogenic	Dyskeratosis congenita Cerebroretinal microangiopathy with calcifications and cysts 1	Criteria Provided Multiple Submitters No Conflicts		rs_374877315	4 SubmittersRCV001213645 RCV002249804
NM_001283009.2(RTEL1):c.475C>T (p.Gln159Ter)	SNV Germline	Chr20:63662625	Pathogenic	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Dyskeratosis congenita, autosomal recessive 5	Criteria Provided Single Submitter		rs_2090043175	1 SubmittersRCV001207263
NM_001283009.2(RTEL1):c.2461G>T (p.Glu821Ter)	SNV Germline	Chr20:63690852	Pathogenic	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Dyskeratosis congenita, autosomal recessive 5	Criteria Provided Single Submitter		rs_2090722556	1 SubmittersRCV001206922
NM_001283009.2(RTEL1):c.2485C>T (p.Gln829Ter)	SNV Germline	Chr20:63690876	Pathogenic	Dyskeratosis congenita, autosomal recessive 5 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3	Criteria Provided Single Submitter		rs_1278121916	1 SubmittersRCV001203817
NM_001283009.2(RTEL1):c.2725C>T (p.Gln909Ter)	SNV Germline	Chr20:63692877	Pathogenic/Likely pathogenic	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Dyskeratosis congenita, autosomal recessive 5 Dyskeratosis congenita, autosomal recessive 5	Criteria Provided Multiple Submitters No Conflicts		rs_866637461	2 SubmittersRCV001210779 RCV003469349
NM_001363.5(DKC1):c.191T>G (p.Val64Gly)	SNV Germline	ChrX:154765926	Conflicting classifications of pathogenicity	Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_2071739379	2 SubmittersRCV001209989
NM_198253.3(TERT):c.2382+3C>A	SNV Germline	Chr5:1272182	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis TERT-related disorder	Criteria Provided Conflicting Classifications		rs_1579564797	2 SubmittersRCV002562338 RCV004545125
NM_025099.6(CTC1):c.2386-1G>A	SNV Germline	Chr17:8231816	Likely pathogenic	Dyskeratosis congenita Cerebroretinal microangiopathy with calcifications and cysts 1	Criteria Provided Multiple Submitters No Conflicts		rs_199861310	4 SubmittersRCV001203903 RCV001809993
NM_001283009.2(RTEL1):c.539-6C>A	SNV Germline	Chr20:63665998	Conflicting classifications of pathogenicity	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Dyskeratosis congenita, autosomal recessive 5 Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_778544732	3 SubmittersRCV001206466 RCV001833812
NM_198253.3(TERT):c.1574-1G>A	SNV Germline	Chr5:1282625	Likely pathogenic	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Single Submitter		rs_1750106866	1 SubmittersRCV002563064
NM_002582.4(PARN):c.1670+1G>T	SNV Germline	Chr16:14482637	Likely pathogenic	Dyskeratosis congenita, autosomal recessive 6 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4	Criteria Provided Single Submitter		rs_1963445391	1 SubmittersRCV001216287
NM_198253.3(TERT):c.2637C>G (p.His879Gln)	SNV Germline	Chr5:1266481	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_1307380469	2 SubmittersRCV002563161 RCV004557461
NM_198253.3(TERT):c.2576G>A (p.Arg859Gln)	SNV Germline	Chr5:1268526	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_755183437	2 SubmittersRCV002563844 RCV004557474
NM_198253.3(TERT):c.1043G>A (p.Ser348Asn)	SNV Germline	Chr5:1293843	Conflicting classifications of pathogenicity	Dyskeratosis congenita Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications		rs_1279397908	3 SubmittersRCV002256713 RCV002563174
NM_198253.3(TERT):c.802C>T (p.Arg268Cys)	SNV Germline	Chr5:1294084	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_749827230	2 SubmittersRCV002563792 RCV004557465
NM_198253.3(TERT):c.686G>A (p.Ser229Asn)	SNV Germline	Chr5:1294200	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_1751217170	2 SubmittersRCV002563843 RCV004557472
NM_198253.3(TERT):c.162C>A (p.Cys54Ter)	SNV Germline	Chr5:1294828	Pathogenic	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Single Submitter		rs_1751289309	1 SubmittersRCV002563175
NM_001082486.2(ACD):c.-29C>G	SNV Germline	Chr16:67660249	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 6 Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications		rs_534010648	3 SubmittersRCV001227102 RCV002447142 RCV003321811
NM_025099.6(CTC1):c.2126C>G (p.Ser709Ter)	SNV Germline	Chr17:8232162	Pathogenic	Dyskeratosis congenita	Criteria Provided Single Submitter		rs_1201426650	1 SubmittersRCV001233953
NM_001283009.2(RTEL1):c.2038C>T (p.Gln680Ter)	SNV Germline	Chr20:63689762	Pathogenic	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Dyskeratosis congenita, autosomal recessive 5	Criteria Provided Single Submitter		rs_2090682958	1 SubmittersRCV001229984
NM_001283009.2(RTEL1):c.2089C>T (p.Arg697Ter)	SNV Germline	Chr20:63689813	Pathogenic/Likely pathogenic	Dyskeratosis congenita, autosomal recessive 5 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Dyskeratosis congenita, autosomal recessive 5	Criteria Provided Multiple Submitters No Conflicts		rs_768188490	2 SubmittersRCV001233061 RCV003469423
NM_001283009.2(RTEL1):c.3169C>T (p.Gln1057Ter)	SNV Germline	Chr20:63694800	Pathogenic/Likely pathogenic	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Dyskeratosis congenita, autosomal recessive 5 Condition: not provided Dyskeratosis congenita, autosomal recessive 5	Criteria Provided Multiple Submitters No Conflicts		rs_2090929102	3 SubmittersRCV001230569 RCV003153953 RCV003469409
NM_198253.3(TERT):c.1334C>G (p.Pro445Arg)	SNV Germline	Chr5:1293552	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 TERT-related disorder Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_956854933	3 SubmittersRCV002564118 RCV004545150 RCV004557488
NM_198253.3(TERT):c.777G>A (p.Pro259=)	SNV Germline	Chr5:1294109	Conflicting classifications of pathogenicity	Dyskeratosis congenita Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications		rs_746036694	3 SubmittersRCV002256723 RCV002568661
NM_025099.6(CTC1):c.2522G>A (p.Arg841His)	SNV Germline	Chr17:8231423	Conflicting classifications of pathogenicity	Dyskeratosis congenita Condition: not provided Cerebroretinal microangiopathy with calcifications and cysts 1 not specified	Criteria Provided Conflicting Classifications		rs_780358670	4 SubmittersRCV001241949 RCV001558827 RCV001807394 RCV001819943
NM_001283009.2(RTEL1):c.2965C>T (p.Arg989Trp)	SNV Germline	Chr20:63693256	Conflicting classifications of pathogenicity	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Dyskeratosis congenita, autosomal recessive 5 Condition: not provided Dyskeratosis congenita, autosomal recessive 5 Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_139221232	6 SubmittersRCV001242762 RCV001732088 RCV001267792 RCV001835138
NM_001283009.2(RTEL1):c.2990C>G (p.Thr997Ser)	SNV Germline	Chr20:63693281	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal recessive 5 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Dyskeratosis congenita Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_1046295138	3 SubmittersRCV001243173 RCV001829015 RCV002564055
NM_001283009.2(RTEL1):c.2999C>T (p.Thr1000Met)	SNV Germline	Chr20:63694378	Conflicting classifications of pathogenicity	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Dyskeratosis congenita, autosomal recessive 5 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_201560152	4 SubmittersRCV001242903 RCV001751484 RCV002447205
NM_001283009.2(RTEL1):c.3203G>A (p.Arg1068His)	SNV Germline	Chr20:63694834	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal recessive 5 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Dyskeratosis congenita Condition: not provided RTEL1-related disorder	Criteria Provided Conflicting Classifications		rs_137914057	5 SubmittersRCV001244547 RCV001835205 RCV002259387 RCV004538512
NM_001283009.2(RTEL1):c.3783C>G (p.Asp1261Glu)	SNV Germline	Chr20:63695611	Conflicting classifications of pathogenicity	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Dyskeratosis congenita, autosomal recessive 5 Condition: not provided	Criteria Provided Conflicting Classifications		rs_376313219	2 SubmittersRCV001245936 RCV003433090
NM_001283009.2(RTEL1):c.1191+1G>C	SNV Germline	Chr20:63680720	Likely pathogenic	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Dyskeratosis congenita, autosomal recessive 5 Dyskeratosis congenita	Criteria Provided Single Submitter		rs_2090461817	2 SubmittersRCV001230155 RCV001833989
NM_002582.4(PARN):c.448C>T (p.Arg150Cys)	SNV Germline	Chr16:14610750	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal recessive 6 Dyskeratosis congenita, autosomal recessive 6 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_777558836	3 SubmittersRCV001249632 RCV001879757 RCV002568697
NM_198253.3(TERT):c.2419G>A (p.Asp807Asn)	SNV Germline	Chr5:1271168	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Conflicting Classifications		rs_1169312254	3 SubmittersRCV001267800 RCV003229617 RCV002568705
NM_198253.3(TERT):c.1285G>T (p.Glu429Ter)	SNV Germline	Chr5:1293601	Pathogenic	Dyskeratosis congenita, autosomal dominant 2	No Assertion Criteria Provided		rs_1561213553	1 SubmittersRCV001267801
NM_002582.4(PARN):c.1067A>G (p.Asn356Ser)	SNV Germline	Chr16:14584361	Conflicting classifications of pathogenicity	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 Dyskeratosis congenita, autosomal recessive 6 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_757655633	3 SubmittersRCV001260999 RCV001880000 RCV003263914
NR_001566.2(TERC):n.95G>C	SNV Germline	Chr3:169764966	Conflicting classifications of pathogenicity	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 Dyskeratosis congenita, autosomal dominant 1 Telomere syndrome	Criteria Provided Conflicting Classifications		rs_1777963668	3 SubmittersRCV001263470 RCV001880061 RCV003325411
NM_198253.3(TERT):c.2593C>T (p.Arg865Cys)	SNV Germline	Chr5:1266525	Conflicting classifications of pathogenicity	Condition: not provided Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_372868296	3 SubmittersRCV001268086 RCV002541635 RCV004557498
NM_025099.6(CTC1):c.670C>T (p.Arg224Ter)	SNV Germline	Chr17:8237497	Pathogenic	Dyskeratosis congenita CTC1-related disorder Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1169567839	3 SubmittersRCV001880169 RCV003898254 RCV001268612
NM_001283009.2(RTEL1):c.2308G>A (p.Gly770Arg)	SNV Germline	Chr20:63690336	Conflicting classifications of pathogenicity	Dyskeratosis congenita Dyskeratosis congenita, autosomal recessive 5 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_537754916	5 SubmittersRCV001279963 RCV002542938 RCV004035497
NM_198253.3(TERT):c.2764A>T (p.Met922Leu)	SNV Germline	Chr5:1264483	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_554229004	2 SubmittersRCV002539471 RCV004557519
NM_198253.3(TERT):c.2130+4G>T	SNV Germline	Chr5:1279287	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis TERT-related disorder	Criteria Provided Conflicting Classifications		rs_762332544	2 SubmittersRCV002543198 RCV004531089
NM_198253.3(TERT):c.965C>T (p.Pro322Leu)	SNV Germline	Chr5:1293921	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_1438162956	2 SubmittersRCV002543194 RCV004557524
NM_001363.5(DKC1):c.1471G>A (p.Asp491Asn)	SNV Germline	ChrX:154776319	Conflicting classifications of pathogenicity	Dyskeratosis congenita DKC1-related disorder	Criteria Provided Conflicting Classifications		rs_782598355	3 SubmittersRCV001308200 RCV004034159
NM_198253.3(TERT):c.2912G>A (p.Arg971His)	SNV Germline	Chr5:1260532	Conflicting classifications of pathogenicity	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Pulmonary fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications		rs_1748153358	3 SubmittersRCV002327692 RCV002543591 RCV002509657 RCV003447587
NM_198253.3(TERT):c.1483A>C (p.Ile495Leu)	SNV Germline	Chr5:1293403	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_1561213308	2 SubmittersRCV002543728 RCV004557533
NM_001283009.2(RTEL1):c.2483G>A (p.Arg828Gln)	SNV Germline	Chr20:63690874	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal recessive 5 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Dyskeratosis congenita Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_774640608	3 SubmittersRCV001325719 RCV001830375 RCV004035176
NM_001283009.2(RTEL1):c.2840A>G (p.Asn947Ser)	SNV Germline	Chr20:63692992	Conflicting classifications of pathogenicity	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Dyskeratosis congenita, autosomal recessive 5 Dyskeratosis congenita Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_761268803	3 SubmittersRCV001327028 RCV001831026 RCV002438753
NM_001363.5(DKC1):c.41A>G (p.Lys14Arg)	SNV Germline	ChrX:154764923	Conflicting classifications of pathogenicity	Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_376632263	2 SubmittersRCV001313757
NM_001363.5(DKC1):c.84C>T (p.Ala28=)	SNV Germline	ChrX:154764966	Conflicting classifications of pathogenicity	Dyskeratosis congenita Condition: not provided DKC1-related disorder	Criteria Provided Conflicting Classifications		rs_142474971	3 SubmittersRCV001326733 RCV003438741 RCV004035214
NM_198253.3(TERT):c.2286+1G>A	SNV Germline	Chr5:1278640	Likely pathogenic	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Multiple Submitters No Conflicts		rs_1749780301	2 SubmittersRCV002675447 RCV004558797
NM_198253.3(TERT):c.1364A>T (p.His455Leu)	SNV Germline	Chr5:1293522	Conflicting classifications of pathogenicity	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Conflicting Classifications		rs_781329984	2 SubmittersRCV002329318 RCV002546931
NM_001082486.2(ACD):c.799G>T (p.Ala267Ser)	SNV Germline	Chr16:67658585	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 6 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_775607009	2 SubmittersRCV001342307 RCV002404800
NM_001082486.2(ACD):c.18G>T (p.Arg6Ser)	SNV Germline	Chr16:67660203	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 6 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_779383442	2 SubmittersRCV001339731 RCV002438772
NM_001082486.2(ACD):c.1168G>A (p.Gly390Arg)	SNV Germline	Chr16:67658024	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Dyskeratosis congenita, autosomal dominant 6	Criteria Provided Conflicting Classifications		rs_553014261	3 SubmittersRCV001355293 RCV002395786 RCV003591862
NM_198253.3(TERT):c.1852A>G (p.Thr618Ala)	SNV Germline	Chr5:1280256	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_995777798	2 SubmittersRCV002550144 RCV004557574
NM_001082486.2(ACD):c.1147C>T (p.Arg383Trp)	SNV Germline	Chr16:67658045	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 6 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_747913250	2 SubmittersRCV001365972 RCV002395827
NM_001082486.2(ACD):c.527G>A (p.Arg176Gln)	SNV Germline	Chr16:67659046	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 6 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_145007645	2 SubmittersRCV001360982 RCV002413853
NM_198253.3(TERT):c.3026C>T (p.Ala1009Val)	SNV Germline	Chr5:1258604	Likely pathogenic	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Multiple Submitters No Conflicts		rs_866575708	2 SubmittersRCV001376142 RCV002550227
NM_198253.3(TERT):c.2970+2T>G	SNV Germline	Chr5:1260472	Likely pathogenic	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Single Submitter		rs_2126584187	1 SubmittersRCV002550253
NM_025099.6(CTC1):c.2385+2T>C	SNV Germline	Chr17:8231901	Conflicting classifications of pathogenicity	Dyskeratosis congenita Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_1597378045	3 SubmittersRCV001378877 RCV002469385 RCV002550255
NM_025099.6(CTC1):c.1A>C (p.Met1Leu)	SNV Germline	Chr17:8248036	Pathogenic/Likely pathogenic	Dyskeratosis congenita Cerebroretinal microangiopathy with calcifications and cysts 1	Criteria Provided Multiple Submitters No Conflicts		rs_779499831	2 SubmittersRCV001378112 RCV001780284
NM_001283009.2(RTEL1):c.1191+1G>A	SNV Germline	Chr20:63680720	Likely pathogenic	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Dyskeratosis congenita, autosomal recessive 5	Criteria Provided Single Submitter		rs_2090461817	1 SubmittersRCV001377598
NM_001283009.2(RTEL1):c.1266+2T>G	SNV Germline	Chr20:63685599	Likely pathogenic	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Dyskeratosis congenita, autosomal recessive 5	Criteria Provided Single Submitter		rs_1444392809	1 SubmittersRCV001378074
NM_001283009.2(RTEL1):c.2265+1G>T	SNV Germline	Chr20:63690211	Likely pathogenic	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Dyskeratosis congenita, autosomal recessive 5 Dyskeratosis congenita Dyskeratosis congenita, autosomal recessive 5	Criteria Provided Multiple Submitters No Conflicts		rs_2145431062	3 SubmittersRCV001378379 RCV001831354 RCV003469633
NM_001283009.2(RTEL1):c.3343+1G>C	SNV Germline	Chr20:63694975	Likely pathogenic	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Dyskeratosis congenita, autosomal recessive 5	Criteria Provided Single Submitter		rs_2145476311	1 SubmittersRCV001377696
NM_025099.6(CTC1):c.1753C>T (p.Gln585Ter)	SNV Germline	Chr17:8234520	Pathogenic	Dyskeratosis congenita Cerebroretinal microangiopathy with calcifications and cysts 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_952398755	3 SubmittersRCV001385981 RCV001780351 RCV003426066
NM_025099.6(CTC1):c.458G>A (p.Trp153Ter)	SNV Germline	Chr17:8238220	Pathogenic	Dyskeratosis congenita	Criteria Provided Single Submitter		rs_2151530716	1 SubmittersRCV001385655
NM_001283009.2(RTEL1):c.1603G>T (p.Glu535Ter)	SNV Germline	Chr20:63688146	Pathogenic	Dyskeratosis congenita, autosomal recessive 5 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3	Criteria Provided Single Submitter		rs_1367858373	1 SubmittersRCV001381426
NM_001283009.2(RTEL1):c.2554C>T (p.Gln852Ter)	SNV Germline	Chr20:63690945	Pathogenic	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Dyskeratosis congenita, autosomal recessive 5 Dyskeratosis congenita, autosomal recessive 5	Criteria Provided Multiple Submitters No Conflicts		rs_2145434954	2 SubmittersRCV001390674 RCV003469778
NM_001283009.2(RTEL1):c.2653G>T (p.Glu885Ter)	SNV Germline	Chr20:63692805	Pathogenic	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Dyskeratosis congenita, autosomal recessive 5	Criteria Provided Single Submitter		rs_2090784564	1 SubmittersRCV001384321
NM_001283009.2(RTEL1):c.3043C>T (p.Gln1015Ter)	SNV Germline	Chr20:63694422	Pathogenic	Dyskeratosis congenita, autosomal recessive 5 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3	Criteria Provided Single Submitter		rs_777109448	1 SubmittersRCV001382485
NM_001283009.2(RTEL1):c.3766C>T (p.Gln1256Ter)	SNV Germline	Chr20:63695594	Pathogenic	Dyskeratosis congenita, autosomal recessive 5 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3	Criteria Provided Single Submitter		rs_1385101139	1 SubmittersRCV001384501
NM_198253.3(TERT):c.1719C>G (p.Leu573=)	SNV Germline	Chr5:1282479	Conflicting classifications of pathogenicity	not specified Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_978808687	3 SubmittersRCV001820094 RCV002552678 RCV004557592
NM_198253.3(TERT):c.1380G>A (p.Gln460=)	SNV Germline	Chr5:1293506	Conflicting classifications of pathogenicity	not specified Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_754992012	3 SubmittersRCV001820097 RCV002552699 RCV004557595
NM_198253.3(TERT):c.696G>A (p.Leu232=)	SNV Germline	Chr5:1294190	Conflicting classifications of pathogenicity	not specified Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_1033402019	3 SubmittersRCV001820107 RCV002554015 RCV004557610
NM_025099.6(CTC1):c.648-9C>T	SNV Germline	Chr17:8237528	Conflicting classifications of pathogenicity	Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_779778738	2 SubmittersRCV001398782
NM_001283009.2(RTEL1):c.3343+8G>C	SNV Germline	Chr20:63694982	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal recessive 5 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 RTEL1-related disorder	Criteria Provided Conflicting Classifications		rs_768036242	2 SubmittersRCV001402543 RCV004531226
NM_198253.3(TERT):c.688C>A (p.Arg230=)	SNV Germline	Chr5:1294198	Conflicting classifications of pathogenicity	not specified Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_989271195	3 SubmittersRCV001820127 RCV002555537 RCV004557643
NM_198253.3(TERT):c.456G>C (p.Leu152=)	SNV Germline	Chr5:1294430	Conflicting classifications of pathogenicity	Dyskeratosis congenita Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications		rs_757121533	3 SubmittersRCV002256771 RCV002555511
NM_001283009.2(RTEL1):c.333C>T (p.Tyr111=)	SNV Germline	Chr20:63661881	Conflicting classifications of pathogenicity	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Dyskeratosis congenita, autosomal recessive 5 Condition: not provided	Criteria Provided Conflicting Classifications		rs_749496657	2 SubmittersRCV001425787 RCV003229055
NM_001283009.2(RTEL1):c.869C>T (p.Ala290Val)	SNV Germline	Chr20:63674043	Conflicting classifications of pathogenicity	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Dyskeratosis congenita, autosomal recessive 5 Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_202157063	2 SubmittersRCV001441796 RCV002256779
NM_001283009.2(RTEL1):c.2911C>T (p.Leu971=)	SNV Germline	Chr20:63693202	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal recessive 5 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Condition: not provided	Criteria Provided Conflicting Classifications		rs_2090805113	2 SubmittersRCV001433829 RCV003235574
NM_198253.3(TERT):c.3048G>A (p.Val1016=)	SNV Germline	Chr5:1255396	Conflicting classifications of pathogenicity	not specified Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_1454370746	3 SubmittersRCV001820156 RCV002560370 RCV004557678
NM_001283009.2(RTEL1):c.273C>T (p.Asn91=)	SNV Germline	Chr20:63661468	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal recessive 5 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_779793496	3 SubmittersRCV001464682 RCV001820158 RCV003298808
NM_001283009.2(RTEL1):c.2169A>G (p.Gln723=)	SNV Germline	Chr20:63690114	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal recessive 5 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_1224602711	2 SubmittersRCV001501914 RCV002256809
NM_001283009.2(RTEL1):c.2869C>A (p.Arg957=)	SNV Germline	Chr20:63693160	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal recessive 5 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Dyskeratosis congenita Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_398123018	3 SubmittersRCV001479591 RCV002256790 RCV002439145
NM_198253.3(TERT):c.421C>G (p.Leu141Val)	SNV Germline	Chr5:1294465	Conflicting classifications of pathogenicity	Condition: not provided Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_775225240	2 SubmittersRCV001577737 RCV004558631
NM_198253.3(TERT):c.-124C>T	SNV Germline/somatic	Chr5:1295113	Likely pathogenic	Melanoma, cutaneous malignant, susceptibility to, 1 Condition: not provided not specified Malignant tumor of urinary bladder Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Multiple Submitters No Conflicts		rs_1242535815	5 SubmittersRCV001728078 RCV002073409 RCV002223145 RCV003332346 RCV003470881
NM_198253.3(TERT):c.2131-16G>A	SNV Germline	Chr5:1278812	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Condition: not provided	Criteria Provided Conflicting Classifications		rs_146768484	2 SubmittersRCV002540730 RCV003237483
NM_025099.6(CTC1):c.150G>A (p.Trp50Ter)	SNV Germline	Chr17:8243032	Pathogenic/Likely pathogenic	Dyskeratosis congenita Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts		rs_202213253	2 SubmittersRCV001868831 RCV002541116
NM_025099.6(CTC1):c.2581G>T (p.Glu861Ter)	SNV Germline	Chr17:8231364	Pathogenic	Cerebroretinal microangiopathy with calcifications and cysts 1 Dyskeratosis congenita	Criteria Provided Multiple Submitters No Conflicts		rs_1987206904	2 SubmittersRCV001780589 RCV001868832
NM_025099.6(CTC1):c.2T>A (p.Met1Lys)	SNV Germline	Chr17:8248035	Pathogenic/Likely pathogenic	Cerebroretinal microangiopathy with calcifications and cysts 1 Dyskeratosis congenita	Criteria Provided Multiple Submitters No Conflicts		rs_1299853886	2 SubmittersRCV001780890 RCV002541187
NM_025099.6(CTC1):c.1818+1G>A	SNV Germline	Chr17:8234454	Likely pathogenic	Cerebroretinal microangiopathy with calcifications and cysts 1 Dyskeratosis congenita	Criteria Provided Multiple Submitters No Conflicts		rs_773716148	2 SubmittersRCV001780891 RCV003530208
NM_001283009.2(RTEL1):c.2821G>T (p.Glu941Ter)	SNV Germline	Chr20:63692973	Pathogenic/Likely pathogenic	Condition: not provided Dyskeratosis congenita, autosomal recessive 5 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Dyskeratosis congenita, autosomal recessive 5	Criteria Provided Multiple Submitters No Conflicts		rs_906116592	4 SubmittersRCV001783696 RCV002541211 RCV003470915
NM_198253.3(TERT):c.329G>C (p.Gly110Ala)	SNV Germline	Chr5:1294557	Conflicting classifications of pathogenicity	Condition: not provided Pulmonary fibrosis Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications		rs_1751262771	3 SubmittersRCV001806957 RCV002509702 RCV002542371
NM_198253.3(TERT):c.2844-12C>A	SNV Germline	Chr5:1260612	Conflicting classifications of pathogenicity	not specified Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications		rs_199765802	2 SubmittersRCV001817430 RCV002542532
NM_002582.4(PARN):c.1192+7A>G	SNV Germline	Chr16:14582174	Conflicting classifications of pathogenicity	not specified Dyskeratosis congenita, autosomal recessive 6 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4	Criteria Provided Conflicting Classifications		rs_766337795	2 SubmittersRCV001819238 RCV002074298
NR_001566.2(TERC):n.54A>C	SNV Germline	Chr3:169765007	Conflicting classifications of pathogenicity	Condition: not provided Dyskeratosis congenita, autosomal dominant 1	Criteria Provided Conflicting Classifications		rs_1288561509	2 SubmittersRCV001819307 RCV003614089
NM_002582.4(PARN):c.178-10C>T	SNV Germline	Chr16:14627346	Conflicting classifications of pathogenicity	not specified Dyskeratosis congenita, autosomal recessive 6 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4	Criteria Provided Conflicting Classifications		rs_1328915368	2 SubmittersRCV001819330 RCV001869684
NM_002582.4(PARN):c.327+10A>G	SNV Germline	Chr16:14627096	Conflicting classifications of pathogenicity	not specified Dyskeratosis congenita, autosomal recessive 6 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4	Criteria Provided Conflicting Classifications		rs_773687682	2 SubmittersRCV001819652 RCV001869707
NM_025099.6(CTC1):c.485G>A (p.Arg162His)	SNV Germline	Chr17:8238193	Conflicting classifications of pathogenicity	not specified Dyskeratosis congenita Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_199966003	3 SubmittersRCV001820333 RCV001869713 RCV002542607
NM_025099.6(CTC1):c.2345G>C (p.Gly782Ala)	SNV Germline	Chr17:8231943	Conflicting classifications of pathogenicity	not specified Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_530949904	2 SubmittersRCV001822740 RCV001869772
NM_198253.3(TERT):c.3157+1G>T	SNV Germline	Chr5:1255286	Likely pathogenic	Condition: not provided Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Multiple Submitters No Conflicts		rs_2126562296	2 SubmittersRCV001817788 RCV003772338
NM_001283009.2(RTEL1):c.190C>T (p.Arg64Ter)	SNV Germline	Chr20:63661385	Pathogenic/Likely pathogenic	Condition: not provided Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Dyskeratosis congenita, autosomal recessive 5	Criteria Provided Multiple Submitters No Conflicts		rs_368311594	2 SubmittersRCV001817855 RCV003772339
NM_025099.6(CTC1):c.2T>C (p.Met1Thr)	SNV Germline	Chr17:8248035	Pathogenic	Condition: not provided Dyskeratosis congenita	Criteria Provided Multiple Submitters No Conflicts		rs_1299853886	2 SubmittersRCV001837721 RCV003530211
NM_001363.5(DKC1):c.204C>G (p.His68Gln)	SNV Germline	ChrX:154765939	Likely pathogenic	Dyskeratosis congenita, X-linked	Criteria Provided Single Submitter		rs_199422245	1 SubmittersRCV001845042
NM_001363.5(DKC1):c.494G>C (p.Gly165Ala)	SNV Germline	ChrX:154767042	Conflicting classifications of pathogenicity	Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_782622660	2 SubmittersRCV001944886
NM_198253.3(TERT):c.247C>T (p.Arg83Ter)	SNV Germline	Chr5:1294639	Pathogenic	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Single Submitter		rs_867642414	1 SubmittersRCV002552829
NM_001082486.1(ACD):c.97C>T (p.Pro33Ser)	SNV Germline	Chr16:67660382	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 6 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_776842448	2 SubmittersRCV001936711 RCV002370579
NM_025099.6(CTC1):c.1918C>T (p.Gln640Ter)	SNV Germline	Chr17:8232933	Pathogenic	Dyskeratosis congenita	Criteria Provided Single Submitter		rs_2151512520	1 SubmittersRCV001974940
NM_025099.6(CTC1):c.812G>A (p.Trp271Ter)	SNV Germline	Chr17:8236323	Pathogenic	Dyskeratosis congenita	Criteria Provided Single Submitter		rs_2151524168	1 SubmittersRCV001912692

NM_018648.4(NOP10):c.100C>T (p.Arg34Trp)

SNV
Germline

Chr15:34342063

Pathogenic

Dyskeratosis congenita, autosomal recessive 1

No Assertion Criteria Provided

CA020161

rs_121908092

2 SubmittersRCV000004500

NM_017838.4(NHP2):c.415T>C (p.Tyr139His)

SNV
Germline

Chr5:178149760

Pathogenic

Dyskeratosis congenita, autosomal recessive 2
Dyskeratosis congenita, autosomal recessive 1

No Assertion Criteria Provided

CA016069

rs_121908089

2 SubmittersRCV000004501 RCV000032277

NM_017838.4(NHP2):c.376G>A (p.Val126Met)

SNV
Unknown

Chr5:178149799

Pathogenic

Dyskeratosis congenita, autosomal recessive 2
Dyskeratosis congenita, autosomal recessive 1

No Assertion Criteria Provided

CA016060

rs_121908090

2 SubmittersRCV000004502 RCV000032276

NM_017838.4(NHP2):c.460T>A (p.Ter154Arg)

SNV
Germline

Chr5:178149715

Pathogenic

Dyskeratosis congenita, autosomal recessive 2
Dyskeratosis congenita, autosomal recessive 1
Condition: not provided

Criteria Provided
Single Submitter

CA016078

rs_121908091

3 SubmittersRCV000004503 RCV000032278 RCV001092140

NM_001099274.3(TINF2):c.838A>G (p.Lys280Glu)

SNV
Germline

Chr14:24240642

Pathogenic

Dyskeratosis congenita, autosomal dominant 3
Dyskeratosis congenita, autosomal dominant 1
Condition: not provided

Criteria Provided
Single Submitter

CA117650

rs_121918543

3 SubmittersRCV000005977 RCV000032165 RCV003441705

NM_001099274.3(TINF2):c.845G>A (p.Arg282His)

SNV
Germline

Chr14:24240635

Pathogenic

Dyskeratosis congenita, autosomal dominant 3
Revesz syndrome
Condition: not provided
Dyskeratosis congenita, autosomal dominant 3
Revesz syndrome
Dyskeratosis congenita, autosomal dominant 1
Dyskeratosis congenita

Criteria Provided
Multiple Submitters
No Conflicts

CA117651

rs_121918544

8 SubmittersRCV000005978 RCV000005979 RCV001509450 RCV002490324 RCV001382425

NM_001099274.3(TINF2):c.844C>A (p.Arg282Ser)

SNV
Germline

Chr14:24240636

Pathogenic

Dyskeratosis congenita, autosomal dominant 3
Dyskeratosis congenita, autosomal dominant 1
Dyskeratosis congenita

Criteria Provided
Single Submitter

CA117652

rs_121918545

3 SubmittersRCV000005980 RCV000032168 RCV001382426

NM_001099274.3(TINF2):c.844C>T (p.Arg282Cys)

SNV
Germline

Chr14:24240636

Pathogenic

Dyskeratosis congenita, autosomal dominant 3
Dyskeratosis congenita, autosomal dominant 1
Condition: not provided
Dyskeratosis congenita

Criteria Provided
Multiple Submitters
No Conflicts

CA117653

rs_121918545

7 SubmittersRCV000005981 RCV000032169 RCV000434257 RCV001054196

NR_001566.2(TERC):n.408C>G

SNV
Unknown

Chr3:169764653

Pathogenic

Dyskeratosis congenita, autosomal dominant 1

No Assertion Criteria Provided

CA340671

rs_199422284

2 SubmittersRCV000007744

NR_001566.2(TERC):n.204C>G

SNV
Germline

Chr3:169764857

Pathogenic

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2
Dyskeratosis congenita, autosomal dominant 1

No Assertion Criteria Provided

CA118712

rs_199422277

2 SubmittersRCV000007746 RCV000032564

NR_001566.2(TERC):n.116C>T

SNV
Germline

Chr3:169764945

Conflicting classifications of pathogenicity

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2
Dyskeratosis congenita, autosomal dominant 1
Condition: not provided
Pulmonary fibrosis

Criteria Provided
Conflicting Classifications

CA118716

rs_199422272

5 SubmittersRCV000007750 RCV000032559 RCV001818142 RCV002509148

NM_001363.5(DKC1):c.106T>G (p.Phe36Val)

SNV
Germline

ChrX:154765465

Pathogenic

Dyskeratosis congenita, X-linked

No Assertion Criteria Provided

CA341107

rs_121912293

3 SubmittersRCV000012338

NM_001363.5(DKC1):c.119C>G (p.Pro40Arg)

SNV
Germline

ChrX:154765478

Pathogenic

Dyskeratosis congenita, X-linked

No Assertion Criteria Provided

CA341112

rs_121912292

3 SubmittersRCV000012340

NM_001363.5(DKC1):c.1205G>A (p.Gly402Glu)

SNV
Germline

ChrX:154774651

Pathogenic

Dyskeratosis congenita, X-linked

No Assertion Criteria Provided

CA341114

rs_121912295

3 SubmittersRCV000012342

NM_001363.5(DKC1):c.1058C>T (p.Ala353Val)

SNV
Germline

ChrX:154773152

Pathogenic

Dyskeratosis congenita, X-linked
Dyskeratosis congenita

Criteria Provided
Multiple Submitters
No Conflicts

CA341116

rs_121912288

5 SubmittersRCV000012343 RCV000464438

NM_001363.5(DKC1):c.16+592C>G

SNV
Germline

ChrX:154763573

Pathogenic

Dyskeratosis congenita, X-linked

No Assertion Criteria Provided

rs_1603429348

1 SubmittersRCV000012347

NM_001363.5(DKC1):c.146C>T (p.Thr49Met)

SNV
Germline

ChrX:154765505

Pathogenic

Dyskeratosis congenita, X-linked
Condition: not provided
Dyskeratosis congenita

Criteria Provided
Multiple Submitters
No Conflicts

CA156187

rs_121912304

5 SubmittersRCV000012349 RCV000254868 RCV000816060

NM_001363.5(DKC1):c.361A>G (p.Ser121Gly)

SNV
Germline

ChrX:154766313

Conflicting classifications of pathogenicity

Hoyeraal-Hreidarsson syndrome
Dyskeratosis congenita, X-linked
Condition: not provided
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA264767

rs_121912305

5 SubmittersRCV000012350 RCV000055630 RCV000479038 RCV001857333

NM_001363.5(DKC1):c.113T>C (p.Ile38Thr)

SNV
Germline

ChrX:154765472

Pathogenic

Hoyeraal-Hreidarsson syndrome
Dyskeratosis congenita, X-linked

No Assertion Criteria Provided

CA264769

rs_28936072

3 SubmittersRCV000012351 RCV000055631

NM_001363.5(DKC1):c.91C>A (p.Gln31Lys)

SNV
Germline

ChrX:154765450

Pathogenic

Dyskeratosis congenita, X-linked

No Assertion Criteria Provided

CA341118

rs_137854491

2 SubmittersRCV000012352

NM_001363.5(DKC1):c.1259+1G>A

SNV
Germline

ChrX:154774706

Pathogenic

Dyskeratosis congenita, X-linked

No Assertion Criteria Provided

rs_1569558616

1 SubmittersRCV000012354

NM_198253.3(TERT):c.604G>A (p.Ala202Thr)

SNV
Germline

Chr5:1294282

Conflicting classifications of pathogenicity

Aplastic anemia
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
not specified
Dyskeratosis congenita, autosomal dominant 2
Condition: not provided
Dyskeratosis congenita
TERT-related disorder
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Conflicting Classifications

CA122653

rs_121918661

21 SubmittersRCV000032398 RCV000013566 RCV000604322 RCV000758251 RCV000489117 RCV002255997 RCV004541000 RCV002513013

NM_198253.3(TERT):c.1234C>T (p.His412Tyr)

SNV
Germline

Chr5:1293652

Conflicting classifications of pathogenicity

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Aplastic anemia
Autosomal recessive dyskeratosis congenita 4
not specified
Dyskeratosis congenita, autosomal dominant 2
Condition: not provided
Dyskeratosis congenita
Melanoma, cutaneous malignant, susceptibility to, 9
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Acute myeloid leukemia
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Conflicting Classifications

CA122655

rs_34094720

14 SubmittersRCV000013567 RCV000032365 RCV000190902 RCV000218461 RCV000262966 RCV000425346 RCV002255259 RCV003224095 RCV002513014

NM_198253.3(TERT):c.2080G>A (p.Val694Met)

SNV
Germline

Chr5:1279341

Conflicting classifications of pathogenicity

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Aplastic anemia
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
TERT-related disorder
Dyskeratosis congenita
Pulmonary fibrosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA122657

rs_121918662

7 SubmittersRCV000013568 RCV000032373 RCV002513015 RCV004532332 RCV004558246 RCV002509152 RCV003441715

NM_198253.3(TERT):c.2706G>C (p.Lys902Asn)

SNV
Germline

Chr5:1264541

Pathogenic

Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita, autosomal dominant 1

No Assertion Criteria Provided

CA122663

rs_121918665

2 SubmittersRCV000013572 RCV000032389

NM_198253.3(TERT):c.2594G>A (p.Arg865His)

SNV
Germline

Chr5:1266524

Pathogenic/Likely pathogenic

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Interstitial lung disease 2
Condition: not provided
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita, autosomal dominant 2
Pulmonary fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA122665

rs_121918666

7 SubmittersRCV000013573 RCV000032385 RCV000412959 RCV002513016 RCV003460466 RCV002509153

NM_198253.3(TERT):c.219+1G>A

SNV
Germline

Chr5:1294770

Likely pathogenic

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Interstitial lung disease 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Single Submitter

CA122668

rs_199422309

3 SubmittersRCV000013575 RCV000032380 RCV002513017

NM_198253.3(TERT):c.1892G>A (p.Arg631Gln)

SNV
Germline

Chr5:1280216

Pathogenic

Dyskeratosis congenita, autosomal dominant 2
Interstitial lung disease 2
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Condition: not provided
Telomere syndrome
Pulmonary fibrosis
Dyskeratosis congenita

Criteria Provided
Multiple Submitters
No Conflicts

CA128724

rs_199422294

9 SubmittersRCV000022783 RCV000032370 RCV000677344 RCV002513175 RCV003150932 RCV003325404 RCV002509167 RCV004558270

NM_198253.3(TERT):c.2431C>T (p.Arg811Cys)

SNV
Germline

Chr5:1271156

Conflicting classifications of pathogenicity

Autosomal recessive dyskeratosis congenita 4
Dyskeratosis congenita, autosomal recessive 1
Condition: not provided
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Conflicting Classifications

CA128727

rs_199422301

5 SubmittersRCV000022784 RCV000032383 RCV001797047 RCV002051796 RCV002513176

NM_198253.3(TERT):c.2701C>T (p.Arg901Trp)

SNV
Germline

Chr5:1264546

Conflicting classifications of pathogenicity

Autosomal recessive dyskeratosis congenita 4
Dyskeratosis congenita, autosomal recessive 1
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA128729

rs_199422304

4 SubmittersRCV000022785 RCV000032388 RCV003764630 RCV004558271

NM_001143992.2(WRAP53):c.1192C>T (p.Arg398Trp)

SNV
Germline

Chr17:7702770

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal recessive 3
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA342768

rs_281865548

5 SubmittersRCV000023966 RCV001269522 RCV003445082

NM_001143992.2(WRAP53):c.1126C>T (p.His376Tyr)

SNV
Germline

Chr17:7702514

Pathogenic

Dyskeratosis congenita, autosomal recessive 3

No Assertion Criteria Provided

CA342771

rs_281865549

2 SubmittersRCV000023967

NM_025099.6(CTC1):c.2959C>T (p.Arg987Trp)

SNV
Germline

Chr17:8229943

Pathogenic

Cerebroretinal microangiopathy with calcifications and cysts 1
Dyskeratosis congenita
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA129608

rs_202138550

4 SubmittersRCV000023987 RCV000533706 RCV001268611

NM_025099.6(CTC1):c.775G>A (p.Val259Met)

SNV
Germline

Chr17:8237392

Pathogenic/Likely pathogenic

Cerebroretinal microangiopathy with calcifications and cysts 1
Dyskeratosis congenita
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA129610

rs_387907080

7 SubmittersRCV000023989 RCV000798102 RCV001577148

NM_025099.6(CTC1):c.2518C>T (p.Arg840Trp)

SNV
Germline

Chr17:8231427

Conflicting classifications of pathogenicity

Cerebroretinal microangiopathy with calcifications and cysts 1
Dyskeratosis congenita
Condition: not provided

Criteria Provided
Conflicting Classifications

CA129611

rs_373905859

4 SubmittersRCV000023990 RCV001051564 RCV001551084

NM_025099.6(CTC1):c.3583C>T (p.Arg1195Ter)

SNV
Germline

Chr17:8228251

Likely pathogenic

Cerebroretinal microangiopathy with calcifications and cysts 1
Dyskeratosis congenita

Criteria Provided
Single Submitter

CA129615

rs_199473682

2 SubmittersRCV000023994 RCV003645857

NM_025099.6(CTC1):c.680C>T (p.Ala227Val)

SNV
Germline

Chr17:8237487

Pathogenic

Cerebroretinal microangiopathy with calcifications and cysts 1
Dyskeratosis congenita

Criteria Provided
Single Submitter

CA129617

rs_199473673

2 SubmittersRCV000023995 RCV002513215

NM_001099274.3(TINF2):c.805C>T (p.Gln269Ter)

SNV
Germline

Chr14:24240675

Pathogenic

Dyskeratosis congenita, autosomal dominant 3

No Assertion Criteria Provided

CA129791

rs_387907153

1 SubmittersRCV000024248

NM_001099274.3(TINF2):c.811C>T (p.Gln271Ter)

SNV
Germline

Chr14:24240669

Pathogenic

Dyskeratosis congenita, autosomal dominant 3

No Assertion Criteria Provided

CA129793

rs_387907154

1 SubmittersRCV000024250

NM_198253.3(TERT):c.2371G>A (p.Val791Ile)

SNV
Germline

Chr5:1272196

Conflicting classifications of pathogenicity

Condition: not provided
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Conflicting Classifications

CA044696

rs_141425941

5 SubmittersRCV001549913 RCV002518376 RCV003992244 RCV003325196

NM_198253.3(TERT):c.2599G>A (p.Val867Met)

SNV
Germline

Chr5:1266519

Pathogenic/Likely pathogenic

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Pulmonary fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

rs_201159197

2 SubmittersRCV002518411 RCV002327153 RCV002509334

NM_198253.3(TERT):c.2146G>A (p.Ala716Thr)

SNV
Germline

Chr5:1278781

Pathogenic/Likely pathogenic

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Multiple Submitters
No Conflicts

CA129984

rs_387907249

5 SubmittersRCV000030629 RCV002513272 RCV003447479

NM_198253.3(TERT):c.2768C>T (p.Pro923Leu)

SNV
Germline

Chr5:1264479

Conflicting classifications of pathogenicity

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Condition: not provided
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA129988

rs_387907251

5 SubmittersRCV000030631 RCV001753435 RCV002513273 RCV004558275

NM_001099274.3(TINF2):c.847C>T (p.Pro283Ser)

SNV
Germline

Chr14:24240633

Pathogenic/Likely pathogenic

Dyskeratosis congenita, autosomal dominant 1
Condition: not provided
TINF2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA343180

rs_199422311

3 SubmittersRCV000032171 RCV000428138 RCV003407386

NM_001099274.3(TINF2):c.850A>G (p.Thr284Ala)

SNV
Germline

Chr14:24240630

Likely pathogenic

Dyskeratosis congenita, autosomal dominant 1
Dyskeratosis congenita

Criteria Provided
Single Submitter

CA343185

rs_199422314

2 SubmittersRCV000032174 RCV002513292

NM_001099274.3(TINF2):c.860T>C (p.Leu287Pro)

SNV
Germline

Chr14:24240620

Likely pathogenic

Dyskeratosis congenita, autosomal dominant 1
Condition: not provided
Dyskeratosis congenita

Criteria Provided
Multiple Submitters
No Conflicts

CA343187

rs_199422316

3 SubmittersRCV000032175 RCV001818202 RCV001852639

NM_001363.5(DKC1):c.1156G>A (p.Ala386Thr)

SNV
Germline

ChrX:154774602

Pathogenic

Dyskeratosis congenita, X-linked

Criteria Provided
Single Submitter

CA343211

rs_199422252

3 SubmittersRCV000032187

NM_001363.5(DKC1):c.1223C>T (p.Thr408Ile)

SNV
Germline

ChrX:154774669

Conflicting classifications of pathogenicity

Dyskeratosis congenita, X-linked
Condition: not provided
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA343223

rs_199422254

4 SubmittersRCV000032192 RCV000255428 RCV001048156

NM_001363.5(DKC1):c.1226C>T (p.Pro409Leu)

SNV
Germline

ChrX:154774672

Likely pathogenic

Dyskeratosis congenita, X-linked
Dyskeratosis congenita

Criteria Provided
Single Submitter

CA343226

rs_121912289

3 SubmittersRCV000032193 RCV004018696

NM_001363.4(DKC1):c.-142C>G

SNV
Germline

ChrX:154762824

Conflicting classifications of pathogenicity

Dyskeratosis congenita, X-linked
Condition: not provided
not specified
Dyskeratosis congenita
DKC1-related disorder

Criteria Provided
Conflicting Classifications

CA343231

rs_199422241

14 SubmittersRCV000032195 RCV000434441 RCV000503491 RCV001442049 RCV004018697

NM_001363.5(DKC1):c.196A>G (p.Thr66Ala)

SNV
Germline

ChrX:154765931

Pathogenic/Likely pathogenic

Dyskeratosis congenita, X-linked
Condition: not provided
Dyskeratosis congenita

Criteria Provided
Multiple Submitters
No Conflicts

CA343234

rs_121912297

4 SubmittersRCV000032197 RCV001551970 RCV003529927

NM_001363.5(DKC1):c.5C>T (p.Ala2Val)

SNV
Germline

ChrX:154762970

Conflicting classifications of pathogenicity

Dyskeratosis congenita, X-linked
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA343245

rs_121912303

4 SubmittersRCV000032202 RCV001852640

NM_198253.3(TERT):c.1456C>T (p.Arg486Cys)

SNV
Germline

Chr5:1293430

Conflicting classifications of pathogenicity

Interstitial lung disease 2
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita
Pulmonary fibrosis

Criteria Provided
Conflicting Classifications

CA343424

rs_199422293

4 SubmittersRCV000032367 RCV002326716 RCV002514131 RCV004558276 RCV002509174

TERT:c.1710G>Y (p.Lys570Asn)

SNV
Not provided

Chr5:1282488

Pathogenic

Dyskeratosis congenita, autosomal dominant 1

No Assertion Criteria Provided

rs_1554041299

1 SubmittersRCV000032369

NM_198253.3(TERT):c.2110C>T (p.Pro704Ser)

SNV
Germline

Chr5:1279311

Pathogenic/Likely pathogenic

Autosomal recessive dyskeratosis congenita 4
Dyskeratosis congenita, autosomal dominant 1
Condition: not provided
Dyskeratosis congenita, autosomal dominant 2
Pulmonary fibrosis
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Multiple Submitters
No Conflicts

CA128731

rs_199422297

8 SubmittersRCV000022786 RCV000032375 RCV000520116 RCV003460537 RCV002509175 RCV003103717 RCV004558278

NM_198253.3(TERT):c.2147C>T (p.Ala716Val)

SNV
Germline

Chr5:1278780

Pathogenic/Likely pathogenic

Aplastic anemia
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Condition: not provided
Dyskeratosis congenita

Criteria Provided
Multiple Submitters
No Conflicts

CA343437

rs_199422298

6 SubmittersRCV000032376 RCV002514132 RCV001576802 RCV004558279

NM_198253.3(TERT):c.2177C>T (p.Thr726Met)

SNV
Germline

Chr5:1278750

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 1
Interstitial lung disease 2
not specified
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Condition: not provided
Dyskeratosis congenita, autosomal dominant 2
TERT-related disorder

Criteria Provided
Conflicting Classifications

CA343442

rs_149566858

8 SubmittersRCV000032378 RCV000987499 RCV001818203 RCV002514133 RCV003137552 RCV003466884 RCV004532476

NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr)

SNV
Germline

Chr5:1254479

Conflicting classifications of pathogenicity

Leukemia, acute myeloid, susceptibility to
Aplastic anemia
not specified
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Dyskeratosis congenita, autosomal dominant 2
Breast carcinoma
Condition: not provided
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA129990

rs_35719940

18 SubmittersRCV000030632 RCV000032393 RCV000151992 RCV000395635 RCV000305704 RCV001262530 RCV001573195 RCV002513302 RCV004558282

NM_198253.3(TERT):c.430G>A (p.Val144Met)

SNV
Germline

Chr5:1294456

Conflicting classifications of pathogenicity

Interstitial lung disease 2
Condition: not provided
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Pulmonary fibrosis

Criteria Provided
Conflicting Classifications

CA343461

rs_199422291

5 SubmittersRCV000032397 RCV000256024 RCV002513303 RCV002509178

NR_001566.2(TERC):n.143G>A

SNV
Germline

Chr3:169764918

Pathogenic

Dyskeratosis congenita, autosomal dominant 1
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2

No Assertion Criteria Provided

CA343754

rs_199422274

2 SubmittersRCV000032561 RCV001610304

NM_025099.6(CTC1):c.859C>T (p.Arg287Ter)

SNV
Germline

Chr17:8236276

Pathogenic

Cerebroretinal microangiopathy with calcifications and cysts 1
Condition: not provided
Dyskeratosis congenita

Criteria Provided
Multiple Submitters
No Conflicts

CA130804

rs_397514660

3 SubmittersRCV000033249 RCV001794465 RCV001852668

NM_001143992.2(WRAP53):c.492C>A (p.Phe164Leu)

SNV
Germline

Chr17:7689284

Likely pathogenic

Dyskeratosis congenita, autosomal recessive 3
Condition: not provided

Criteria Provided
Single Submitter

CA344267

rs_281865547

3 SubmittersRCV000034152 RCV000439983

NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His)

SNV
Germline

Chr20:63695619

Pathogenic/Likely pathogenic

Dyskeratosis congenita, autosomal recessive 5
Interstitial lung disease 2
Condition: not provided
Dyskeratosis congenita
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita, autosomal recessive 5
See cases
Inborn genetic diseases
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3

Criteria Provided
Multiple Submitters
No Conflicts

CA130947

rs_201540674

15 SubmittersRCV000034860 RCV000201662 RCV000524079 RCV000586517 RCV000814441 RCV002222150 RCV002513343 RCV003329238

NM_001283009.2(RTEL1):c.1476G>T (p.Met492Ile)

SNV
Germline

Chr20:63687765

Pathogenic/Likely pathogenic

Dyskeratosis congenita, autosomal recessive 5
Dyskeratosis congenita
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita, autosomal recessive 5
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA130949

rs_370343781

6 SubmittersRCV000034861 RCV000586033 RCV000824065 RCV003129760

NM_001283009.2(RTEL1):c.2920C>T (p.Arg974Ter)

SNV
Germline

Chr20:63693211

Pathogenic

Dyskeratosis congenita, autosomal recessive 5
Interstitial lung disease 2
Dyskeratosis congenita
Dyskeratosis congenita, autosomal recessive 5
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Condition: not provided
Pulmonary fibrosis
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3

Criteria Provided
Multiple Submitters
No Conflicts

CA130951

rs_398123017

13 SubmittersRCV000034862 RCV000201744 RCV000589642 RCV000651094 RCV001558635 RCV002509182 RCV003492338

NM_001283009.2(RTEL1):c.2869C>T (p.Arg957Trp)

SNV
Germline

Chr20:63693160

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal recessive 5
Dyskeratosis congenita
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita, autosomal recessive 5
Condition: not provided
RTEL1-related disorder

Criteria Provided
Conflicting Classifications

CA130954

rs_398123018

8 SubmittersRCV000034863 RCV000588014 RCV001239040 RCV003129761 RCV004534729

NM_001283009.2(RTEL1):c.2097C>G (p.Ile699Met)

SNV
Germline

Chr20:63689821

Pathogenic

Dyskeratosis congenita, autosomal recessive 5

No Assertion Criteria Provided

CA144779

rs_398123048

1 SubmittersRCV000055635

NM_001283009.2(RTEL1):c.2141+5G>A

SNV
Germline

Chr20:63689870

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal recessive 5

Criteria Provided
Conflicting Classifications

CA144783

rs_398123050

4 SubmittersRCV000055637

NM_001283009.2(RTEL1):c.1773G>T (p.Glu591Asp)

SNV
Germline

Chr20:63688578

Pathogenic

Dyskeratosis congenita, autosomal recessive 5

No Assertion Criteria Provided

CA144784

rs_398123051

1 SubmittersRCV000055638

NM_001283009.2(RTEL1):c.2956C>T (p.Arg986Ter)

SNV
Germline

Chr20:63693247

Pathogenic/Likely pathogenic

Dyskeratosis congenita, autosomal dominant 4
Condition: not provided
Dyskeratosis congenita, autosomal recessive 5
Dyskeratosis congenita, autosomal recessive 5
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita
RTEL1-related disorder
Pulmonary fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA144786

rs_373740199

16 SubmittersRCV000055639 RCV000336673 RCV000665130 RCV000703852 RCV000502656 RCV004537250 RCV002509196

NM_001283009.2(RTEL1):c.1861G>A (p.Ala621Thr)

SNV
Germline

Chr20:63689115

Pathogenic

Dyskeratosis congenita, autosomal dominant 4

No Assertion Criteria Provided

CA144788

rs_398123052

1 SubmittersRCV000055640

NM_198253.3(TERT):c.3105C>T (p.Val1035=)

SNV
Germline

Chr5:1255339

Conflicting classifications of pathogenicity

not specified
Dyskeratosis congenita, autosomal dominant 2
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Aplastic anemia
Condition: not provided
Dyskeratosis congenita
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Conflicting Classifications

CA178124

rs_181612536

13 SubmittersRCV000151993 RCV000313027 RCV000366513 RCV000399240 RCV001560519 RCV002256086 RCV002514931

NM_002582.4(PARN):c.1148C>T (p.Ala383Val)

SNV
Germline

Chr16:14582225

Pathogenic

Dyskeratosis congenita
Dyskeratosis congenita, autosomal recessive 6

No Assertion Criteria Provided

CA250319

rs_786200999

2 SubmittersRCV000162313 RCV000170484

NM_002582.4(PARN):c.918+1G>T

SNV
Germline

Chr16:14593300

Pathogenic

Dyskeratosis congenita
Dyskeratosis congenita, autosomal recessive 6

No Assertion Criteria Provided

CA250321

rs_756132866

2 SubmittersRCV000162314 RCV000170485

NM_002582.4(PARN):c.529C>T (p.Gln177Ter)

SNV
Germline

Chr16:14610669

Pathogenic

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
Condition: not provided
Pulmonary fibrosis
Dyskeratosis congenita, autosomal recessive 6
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4

Criteria Provided
Multiple Submitters
No Conflicts

CA10575708

rs_876661305

4 SubmittersRCV000170590 RCV001311427 RCV002509273 RCV003765062

NM_198253.3(TERT):c.1990G>C (p.Val664Leu)

SNV
Germline

Chr5:1279431

Conflicting classifications of pathogenicity

Condition: not provided
Dyskeratosis congenita, autosomal dominant 2
Myelodysplasia
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Conflicting Classifications

CA208776

rs_797046042

5 SubmittersRCV000194545 RCV000515155 RCV001172445 RCV003105822

NM_025099.6(CTC1):c.2192G>A (p.Arg731Gln)

SNV
Germline

Chr17:8232096

Conflicting classifications of pathogenicity

not specified
Dyskeratosis congenita
Cerebroretinal microangiopathy with calcifications and cysts 1
Condition: not provided
Inborn genetic diseases
CTC1-related disorder

Criteria Provided
Conflicting Classifications

CA208071

rs_201891953

9 SubmittersRCV000194118 RCV000545908 RCV000764154 RCV001508436 RCV002517927 RCV003967495

NM_001283009.2(RTEL1):c.3615C>T (p.Ser1205=)

SNV
Germline

Chr20:63695443

Conflicting classifications of pathogenicity

not specified
Dyskeratosis congenita, autosomal recessive 5
Dyskeratosis congenita, autosomal recessive 5
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3

Criteria Provided
Conflicting Classifications

CA205223

rs_797045923

3 SubmittersRCV000192413 RCV000670442 RCV001475667

NM_001283009.2(RTEL1):c.2413+1G>C

SNV
Germline

Chr20:63690442

Pathogenic/Likely pathogenic

Interstitial lung disease 2
Dyskeratosis congenita
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita, autosomal recessive 5
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3

Criteria Provided
Multiple Submitters
No Conflicts

CA210103

rs_776744306

4 SubmittersRCV000201651 RCV000590169 RCV003329258 RCV003765296

NM_001283009.2(RTEL1):c.2957G>A (p.Arg986Gln)

SNV
Germline

Chr20:63693248

Conflicting classifications of pathogenicity

Interstitial lung disease 2
Dyskeratosis congenita, autosomal recessive 5
Dyskeratosis congenita, autosomal recessive 5
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1-related disorder

Criteria Provided
Conflicting Classifications

CA210095

rs_146221660

6 SubmittersRCV000201575 RCV000666023 RCV001309992 RCV001833164 RCV003329259 RCV004530203

NM_001283009.2(RTEL1):c.1482-1G>A

SNV
Germline

Chr20:63687936

Pathogenic/Likely pathogenic

Interstitial lung disease 2
Dyskeratosis congenita
Dyskeratosis congenita, autosomal recessive 5
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3

Criteria Provided
Multiple Submitters
No Conflicts

CA279370

rs_863225129

3 SubmittersRCV000201560 RCV000588351 RCV003765299

NM_001283009.2(RTEL1):c.1618T>G (p.Ser540Ala)

SNV
Germline

Chr20:63688161

Conflicting classifications of pathogenicity

Interstitial lung disease 2
Dyskeratosis congenita, autosomal recessive 5
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3

Criteria Provided
Conflicting Classifications

CA279525

rs_863225130

2 SubmittersRCV000201743 RCV002517308

NM_198253.3(TERT):c.834C>A (p.Pro278=)

SNV
Germline

Chr5:1294052

Conflicting classifications of pathogenicity

not specified
Aplastic anemia
Dyskeratosis congenita, autosomal dominant 2
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA3184905

rs_375423906

4 SubmittersRCV000218700 RCV001152947 RCV001155583 RCV001152948 RCV002517511 RCV004558465

NM_198253.3(TERT):c.3333G>A (p.Thr1111=)

SNV
Germline

Chr5:1253794

Conflicting classifications of pathogenicity

not specified
Dyskeratosis congenita, autosomal dominant 2
Aplastic anemia
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Condition: not provided
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA3184210

rs_200102606

5 SubmittersRCV000501447 RCV001158196 RCV001158197 RCV001158198 RCV001668401 RCV002518383 RCV004558598

NM_198253.3(TERT):c.2991G>A (p.Val997=)

SNV
Germline

Chr5:1258639

Conflicting classifications of pathogenicity

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Dyskeratosis congenita, autosomal dominant 2
Aplastic anemia
not specified
Dyskeratosis congenita
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Acute myeloid leukemia

Criteria Provided
Conflicting Classifications

CA3184323

rs_376266401

6 SubmittersRCV001154848 RCV001154849 RCV001156515 RCV001820782 RCV002255342 RCV003103748 RCV003316312

NM_198253.3(TERT):c.2971-10G>T

SNV
Germline

Chr5:1258669

Conflicting classifications of pathogenicity

not specified
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Condition: not provided
TERT-related disorder

Criteria Provided
Conflicting Classifications

CA10582350

rs_878855303

4 SubmittersRCV001820781 RCV002519813 RCV003237799 RCV004541460

NM_198253.3(TERT):c.2769G>A (p.Pro923=)

SNV
Germline

Chr5:1264478

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dyskeratosis congenita
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Acute myeloid leukemia

Criteria Provided
Conflicting Classifications

CA3184401

rs_200174990

6 SubmittersRCV000499661 RCV000732368 RCV002256178 RCV002518377 RCV003316311

NM_198253.3(TERT):c.2255A>G (p.His752Arg)

SNV
Germline

Chr5:1278672

Conflicting classifications of pathogenicity

not specified
Dyskeratosis congenita
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Conflicting Classifications

CA3184618

rs_375699185

4 SubmittersRCV000502003 RCV002255341 RCV002519811

NM_198253.3(TERT):c.2127C>G (p.Val709=)

SNV
Germline

Chr5:1279294

Conflicting classifications of pathogenicity

not specified
Aplastic anemia
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Dyskeratosis congenita, autosomal dominant 2
Condition: not provided
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA3184667

rs_765264494

5 SubmittersRCV000503916 RCV001154529 RCV001151517 RCV001151518 RCV003437032 RCV002518373 RCV004558594

NM_198253.3(TERT):c.2106G>A (p.Pro702=)

SNV
Germline

Chr5:1279315

Conflicting classifications of pathogenicity

not specified
Aplastic anemia
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Dyskeratosis congenita, autosomal dominant 2
Condition: not provided
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA3184671

rs_151055240

13 SubmittersRCV000250893 RCV000273101 RCV000302865 RCV000357715 RCV001529280 RCV002518372 RCV004558593

NM_198253.3(TERT):c.2098C>T (p.Gln700Ter)

SNV
Germline

Chr5:1279323

Pathogenic

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Single Submitter

CA10582353

rs_878855300

1 SubmittersRCV002518371

NM_198253.3(TERT):c.2001C>T (p.Tyr667=)

SNV
Germline

Chr5:1279420

Conflicting classifications of pathogenicity

Interstitial lung disease 2
Aplastic anemia
Dyskeratosis congenita, autosomal dominant 2
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Dyskeratosis congenita
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
TERT-related disorder

Criteria Provided
Conflicting Classifications

CA3184691

rs_758494245

6 SubmittersRCV000987500 RCV001155364 RCV001155365 RCV001155363 RCV002255340 RCV002518370 RCV004532972

NM_198253.3(TERT):c.1936C>T (p.Arg646Cys)

SNV
Germline

Chr5:1280172

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Dyskeratosis congenita
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Conflicting Classifications

CA3184723

rs_147521473

5 SubmittersRCV001775705 RCV001820780 RCV002256176 RCV002518369 RCV003469172

NM_198253.3(TERT):c.1336C>A (p.Arg446Ser)

SNV
Germline

Chr5:1293550

Conflicting classifications of pathogenicity

Condition: not provided
Dyskeratosis congenita
not specified
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
TERT-related disorder

Criteria Provided
Conflicting Classifications

CA3184855

rs_567650961

7 SubmittersRCV001356732 RCV002255339 RCV003151000 RCV002518367 RCV004532971

NM_198253.3(TERT):c.1331A>G (p.Asp444Gly)

SNV
Germline

Chr5:1293555

Conflicting classifications of pathogenicity

Acute myeloid leukemia
Condition: not provided
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA10582362

rs_878855299

4 SubmittersRCV001292603 RCV003325475 RCV002518366 RCV004558590

NM_198253.3(TERT):c.-57A>C

SNV
Germline/somatic

Chr5:1295046

Conflicting classifications of pathogenicity

Melanoma, cutaneous malignant, susceptibility to, 9
Condition: not provided
Malignant tumor of urinary bladder
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
not specified

Criteria Provided
Conflicting Classifications

CA10582367

rs_878855297

8 SubmittersRCV000034312 RCV001820777 RCV003332157 RCV002519807 RCV003475834 RCV004558587

NM_017838.4(NHP2):c.270A>G (p.Val90=)

SNV
Germline

Chr5:178150954

Conflicting classifications of pathogenicity

Dyskeratosis congenita
not specified

Criteria Provided
Conflicting Classifications

CA3589191

rs_148179279

3 SubmittersRCV000231151 RCV001820755

NM_025099.6(CTC1):c.2478A>G (p.Thr826=)

SNV
Germline

Chr17:8231467

Conflicting classifications of pathogenicity

Dyskeratosis congenita
not specified
Condition: not provided
Cerebroretinal microangiopathy with calcifications and cysts 1

Criteria Provided
Conflicting Classifications

CA8372049

rs_200643329

8 SubmittersRCV000231025 RCV000501561 RCV001573147 RCV001807147

NM_198253.3(TERT):c.1849C>T (p.Leu617=)

SNV
Germline

Chr5:1280259

Conflicting classifications of pathogenicity

not specified
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Aplastic anemia
Dyskeratosis congenita, autosomal dominant 2
Condition: not provided
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita
Acute myeloid leukemia

Criteria Provided
Conflicting Classifications

CA3184742

rs_140951453

8 SubmittersRCV000244189 RCV000336462 RCV000287182 RCV000372475 RCV001580477 RCV002518668 RCV004558609 RCV003316456

NM_198253.3(TERT):c.1769+16G>A

SNV
Germline

Chr5:1282413

Conflicting classifications of pathogenicity

not specified
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA3184775

rs_202108457

3 SubmittersRCV000248852 RCV003105841 RCV004558608

NM_198253.3(TERT):c.2455C>T (p.Arg819Cys)

SNV
Germline

Chr5:1271132

Conflicting classifications of pathogenicity

Condition: not provided
Dyskeratosis congenita
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Conflicting Classifications

CA10588390

rs_746621306

3 SubmittersRCV000256149 RCV002256186 RCV002518756

NM_198253.3(TERT):c.1700C>T (p.Thr567Met)

SNV
Germline

Chr5:1282498

Likely pathogenic

Condition: not provided
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Multiple Submitters
No Conflicts

CA10588391

rs_886039438

3 SubmittersRCV000255577 RCV002518755 RCV004558612

NM_198253.3(TERT):c.887A>C (p.His296Pro)

SNV
Germline

Chr5:1293999

Conflicting classifications of pathogenicity

Aplastic anemia
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Dyskeratosis congenita, autosomal dominant 2
7 conditions
Hepatocellular carcinoma
not specified
Condition: not provided
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Conflicting Classifications

CA3184895

rs_778187343

6 SubmittersRCV000283392 RCV000322037 RCV000378796 RCV000765804 RCV000503276 RCV001820800 RCV002305476 RCV002518795

NM_198253.3(TERT):c.150G>A (p.Leu50=)

SNV
Germline

Chr5:1294840

Conflicting classifications of pathogenicity

Condition: not provided
7 conditions
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
TERT-related disorder
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA10606413

rs_886044153

5 SubmittersRCV000385403 RCV000764569 RCV002518081 RCV004543126 RCV004558615

NM_198253.3(TERT):c.2781A>G (p.Leu927=)

SNV
Germline

Chr5:1264466

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Aplastic anemia
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA3184396

rs_370292237

3 SubmittersRCV000285766 RCV000343040 RCV000376627 RCV002520298 RCV004558620

NM_198253.3(TERT):c.2391C>G (p.Ser797=)

SNV
Germline

Chr5:1271196

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Aplastic anemia
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Condition: not provided
Dyskeratosis congenita
not specified
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Conflicting Classifications

CA3184524

rs_377216965

7 SubmittersRCV000291722 RCV000328047 RCV000381346 RCV001584066 RCV002255373 RCV001821074 RCV002520301

NM_198253.3(TERT):c.219+7C>T

SNV
Germline

Chr5:1294764

Conflicting classifications of pathogenicity

Aplastic anemia
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Dyskeratosis congenita, autosomal dominant 2
not specified
Condition: not provided
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
TERT-related disorder
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA3185020

rs_573817924

8 SubmittersRCV000266345 RCV000324023 RCV000357781 RCV000613962 RCV001528455 RCV002520305 RCV004544655 RCV004559045

NM_198253.3(TERT):c.2654+10G>A

SNV
Germline

Chr5:1266454

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Aplastic anemia
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
TERT-related disorder

Criteria Provided
Conflicting Classifications

CA3184437

rs_375473823

3 SubmittersRCV000274620 RCV000315371 RCV000367753 RCV002520299 RCV004544653

NM_017838.4(NHP2):c.160+10A>T

SNV
Germline

Chr5:178153648

Conflicting classifications of pathogenicity

Dyskeratosis congenita
Condition: not provided
not specified
NHP2-related disorder

Criteria Provided
Conflicting Classifications

CA3589267

rs_376220034

5 SubmittersRCV000469686 RCV001702437 RCV001821077 RCV003972482

NM_198253.3(TERT):c.3150G>C (p.Lys1050Asn)

SNV
Germline

Chr5:1255294

Conflicting classifications of pathogenicity

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Dyskeratosis congenita, autosomal dominant 2
Aplastic anemia
not specified
Dyskeratosis congenita
Condition: not provided
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Conflicting Classifications

CA3184275

rs_373400596

6 SubmittersRCV000309581 RCV000344253 RCV000398654 RCV001815383 RCV002255372 RCV002509370 RCV002523498

NM_198253.3(TERT):c.2886C>T (p.Arg962=)

SNV
Germline

Chr5:1260558

Conflicting classifications of pathogenicity

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Dyskeratosis congenita, autosomal dominant 2
Aplastic anemia
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA3184349

rs_542440625

3 SubmittersRCV000283455 RCV000319818 RCV000374647 RCV002523499 RCV004558619

NM_198253.3(TERT):c.663G>T (p.Ala221=)

SNV
Germline

Chr5:1294223

Conflicting classifications of pathogenicity

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Dyskeratosis congenita, autosomal dominant 2
Aplastic anemia
Dyskeratosis congenita
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Conflicting Classifications

CA3184933

rs_35837567

3 SubmittersRCV000312452 RCV000355603 RCV000403911 RCV004558621 RCV002520303

NM_198253.3(TERT):c.572G>C (p.Ser191Thr)

SNV
Germline

Chr5:1294314

Conflicting classifications of pathogenicity

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Aplastic anemia
Dyskeratosis congenita, autosomal dominant 2
not specified
Dyskeratosis congenita
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Condition: not provided
TERT-related disorder
Acute myeloid leukemia

Criteria Provided
Conflicting Classifications

CA3184953

rs_11952056

8 SubmittersRCV000296917 RCV000354116 RCV000404356 RCV001821075 RCV002257653 RCV002520304 RCV003137968 RCV004530415 RCV003316499

NM_001143992.2(WRAP53):c.495C>T (p.Ser165=)

SNV
Germline

Chr17:7689287

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal recessive 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8354989

rs_147817526

3 SubmittersRCV000399881 RCV002056637

NM_018648.4(NOP10):c.51G>C (p.Leu17=)

SNV
Germline

Chr15:34343023

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal recessive 1

Criteria Provided
Conflicting Classifications

CA7464811

rs_761222362

2 SubmittersRCV000306780

NM_001099274.3(TINF2):c.62A>G (p.Gln21Arg)

SNV
Germline

Chr14:24242271

Conflicting classifications of pathogenicity

Revesz syndrome
Dyskeratosis congenita, autosomal dominant 3
Dyskeratosis congenita
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7130763

rs_367835995

4 SubmittersRCV000293979 RCV000346506 RCV001042861 RCV003235188

NM_001099274.3(TINF2):c.507+5C>T

SNV
Germline

Chr14:24241199

Conflicting classifications of pathogenicity

Revesz syndrome
Dyskeratosis congenita, autosomal dominant 3
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA7130644

rs_761308889

2 SubmittersRCV000303864 RCV000356203 RCV002522301

NM_018648.4(NOP10):c.55-9C>T

SNV
Germline

Chr15:34342117

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal recessive 1
Condition: not provided
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA7464781

rs_72720799

7 SubmittersRCV000538557 RCV001729528 RCV001820934 RCV002256204

NM_025099.6(CTC1):c.3190A>G (p.Thr1064Ala)

SNV
Germline

Chr17:8229173

Conflicting classifications of pathogenicity

Dyskeratosis congenita
Cerebroretinal microangiopathy with calcifications and cysts 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8371851

rs_777357385

4 SubmittersRCV000813460 RCV001807217 RCV003343781

NM_025099.6(CTC1):c.2439G>A (p.Pro813=)

SNV
Germline

Chr17:8231762

Conflicting classifications of pathogenicity

Dyskeratosis congenita
Cerebroretinal microangiopathy with calcifications and cysts 1

Criteria Provided
Conflicting Classifications

CA8372081

rs_200759730

3 SubmittersRCV001062476 RCV001807221

NM_025099.6(CTC1):c.1728G>A (p.Pro576=)

SNV
Germline

Chr17:8234545

Conflicting classifications of pathogenicity

Dyskeratosis congenita
not specified
Condition: not provided
Cerebroretinal microangiopathy with calcifications and cysts 1
CTC1-related disorder

Criteria Provided
Conflicting Classifications

CA8372269

rs_78320653

8 SubmittersRCV000634522 RCV000503687 RCV001753785 RCV001807228 RCV003912360

NM_025099.6(CTC1):c.1500C>T (p.Pro500=)

SNV
Germline

Chr17:8234866

Conflicting classifications of pathogenicity

Dyskeratosis congenita
Cerebroretinal microangiopathy with calcifications and cysts 1

Criteria Provided
Conflicting Classifications

CA8372330

rs_761750183

4 SubmittersRCV000873101 RCV001807229

NM_001143992.2(WRAP53):c.822+10G>A

SNV
Germline

Chr17:7701559

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal recessive 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8355140

rs_372606750

2 SubmittersRCV000344488 RCV002056638

NM_001143992.2(WRAP53):c.834G>A (p.Thr278=)

SNV
Germline

Chr17:7701668

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal recessive 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8355172

rs_372166304

2 SubmittersRCV000309518 RCV000899517

NM_025099.6(CTC1):c.3504C>T (p.Ile1168=)

SNV
Germline

Chr17:8228513

Conflicting classifications of pathogenicity

Dyskeratosis congenita
not specified

Criteria Provided
Conflicting Classifications

CA8371757

rs_760547081

3 SubmittersRCV000297674 RCV001820981

NM_025099.6(CTC1):c.1734C>T (p.Ala578=)

SNV
Germline

Chr17:8234539

Conflicting classifications of pathogenicity

Dyskeratosis congenita
Condition: not provided
Cerebroretinal microangiopathy with calcifications and cysts 1

Criteria Provided
Conflicting Classifications

CA8372267

rs_374985738

5 SubmittersRCV000544541 RCV003418031 RCV001807227

NM_025099.6(CTC1):c.663T>C (p.Gly221=)

SNV
Germline

Chr17:8237504

Conflicting classifications of pathogenicity

Dyskeratosis congenita
Cerebroretinal microangiopathy with calcifications and cysts 1
Condition: not provided
CTC1-related disorder

Criteria Provided
Conflicting Classifications

CA8372572

rs_138725914

5 SubmittersRCV000634512 RCV001807231 RCV003884476 RCV003969928

NM_001143992.2(WRAP53):c.1035C>T (p.Tyr345=)

SNV
Germline

Chr17:7702423

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal recessive 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8355249

rs_138784430

2 SubmittersRCV000303391 RCV001445333

NM_001143992.2(WRAP53):c.1269-13C>T

SNV
Germline

Chr17:7702980

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal recessive 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8355317

rs_371953585

2 SubmittersRCV000360411 RCV002056639

NM_025099.6(CTC1):c.2895C>T (p.Ala965=)

SNV
Germline

Chr17:8230332

Conflicting classifications of pathogenicity

Dyskeratosis congenita
not specified
Cerebroretinal microangiopathy with calcifications and cysts 1

Criteria Provided
Conflicting Classifications

CA8371952

rs_373530008

5 SubmittersRCV000861919 RCV001820982 RCV001807219

NM_025099.6(CTC1):c.615C>T (p.Tyr205=)

SNV
Germline

Chr17:8238063

Conflicting classifications of pathogenicity

not specified
Dyskeratosis congenita
Cerebroretinal microangiopathy with calcifications and cysts 1
Condition: not provided
CTC1-related disorder

Criteria Provided
Conflicting Classifications

CA8372600

rs_571035242

6 SubmittersRCV000500419 RCV000863925 RCV001807232 RCV003418032 RCV003950112

NM_025099.6(CTC1):c.1459A>G (p.Arg487Gly)

SNV
Germline

Chr17:8234907

Conflicting classifications of pathogenicity

Condition: not provided
Dyskeratosis congenita
Cerebroretinal microangiopathy with calcifications and cysts 1

Criteria Provided
Conflicting Classifications

CA8372338

rs_747887601

3 SubmittersRCV000428927 RCV000634491 RCV001807251

NM_001143992.2(WRAP53):c.1075C>T (p.Pro359Ser)

SNV
Germline

Chr17:7702463

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dyskeratosis congenita
WRAP53-related disorder

Criteria Provided
Conflicting Classifications

CA8355254

rs_149359927

5 SubmittersRCV000426413 RCV000767151 RCV002418337 RCV003942461

NM_001363.5(DKC1):c.1133G>A (p.Arg378Gln)

SNV
Germline

ChrX:154773227

Conflicting classifications of pathogenicity

Condition: not provided
Dyskeratosis congenita, X-linked
Congenital cerebellar hypoplasia
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA16608850

rs_1057520719

5 SubmittersRCV000442656 RCV000779660 RCV001257984 RCV003530047

NM_198253.3(TERT):c.2141C>T (p.Thr714Met)

SNV
Germline

Chr5:1278786

Conflicting classifications of pathogenicity

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita, autosomal dominant 2
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Dyskeratosis congenita
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3184642

rs_772441504

4 SubmittersRCV002525587 RCV003150818 RCV003150819 RCV004559084 RCV003233642

NM_198253.3(TERT):c.2011C>T (p.Arg671Trp)

SNV
Germline

Chr5:1279410

Conflicting classifications of pathogenicity

Condition: not provided
Hoyeraal-Hreidarsson syndrome
Autosomal recessive dyskeratosis congenita 4
Autosomal recessive dyskeratosis congenita 4
Pulmonary fibrosis
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Telomere syndrome
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA16611699

rs_1060503011

7 SubmittersRCV001508166 RCV001753903 RCV002264699 RCV002509394 RCV002523341 RCV003325407 RCV004559086

NM_198253.3(TERT):c.1931C>T (p.Thr644Met)

SNV
Germline

Chr5:1280177

Conflicting classifications of pathogenicity

Chronic obstructive pulmonary disease
Decreased circulating antibody level
Chronic diarrhea
Immunodeficiency
Condition: not provided
7 conditions
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
TERT-related disorder
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Conflicting Classifications

CA3184726

rs_201927653

6 SubmittersRCV002244939 RCV002307507 RCV002506127 RCV002526430 RCV004539953 RCV003463952

NM_198253.3(TERT):c.2465G>A (p.Gly822Asp)

SNV
Germline

Chr5:1271122

Conflicting classifications of pathogenicity

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Conflicting Classifications

CA3184512

rs_757820442

2 SubmittersRCV002523340 RCV004568061

NM_198253.3(TERT):c.2130+10G>A

SNV
Germline

Chr5:1279281

Conflicting classifications of pathogenicity

not specified
Dyskeratosis congenita, autosomal dominant 2
Aplastic anemia
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Condition: not provided
Dyskeratosis congenita
TERT-related disorder
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Conflicting Classifications

CA3184663

rs_373879259

6 SubmittersRCV000502349 RCV001151514 RCV001151515 RCV001151516 RCV001536535 RCV004559102 RCV004541500 RCV002526490

NM_198253.3(TERT):c.1974G>A (p.Val658=)

SNV
Germline

Chr5:1279447

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Aplastic anemia
not specified
Dyskeratosis congenita
Condition: not provided
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
TERT-related disorder

Criteria Provided
Conflicting Classifications

CA3184695

rs_778496417

7 SubmittersRCV001157052 RCV001157053 RCV001157054 RCV001821371 RCV002257755 RCV003431033 RCV002525684 RCV004541497

NM_198253.3(TERT):c.673G>C (p.Gly225Arg)

SNV
Germline

Chr5:1294213

Conflicting classifications of pathogenicity

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA16611921

rs_1060502999

2 SubmittersRCV003103781 RCV004559076

NM_001099274.3(TINF2):c.1166T>C (p.Ile389Thr)

SNV
Germline

Chr14:24240119

Conflicting classifications of pathogenicity

Dyskeratosis congenita
not specified
TINF2-related disorder

Criteria Provided
Conflicting Classifications

CA7130468

rs_192423622

4 SubmittersRCV000465078 RCV001821320 RCV003970312

NM_025099.6(CTC1):c.1720C>T (p.Pro574Ser)

SNV
Germline

Chr17:8234553

Conflicting classifications of pathogenicity

Dyskeratosis congenita
not specified
Condition: not provided
Cerebroretinal microangiopathy with calcifications and cysts 1
CTC1-related disorder

Criteria Provided
Conflicting Classifications

CA8372273

rs_200440641

8 SubmittersRCV000469334 RCV000500603 RCV001551204 RCV001807256 RCV003418207

NM_001099274.3(TINF2):c.81C>A (p.Cys27Ter)

SNV
Germline

Chr14:24242252

Conflicting classifications of pathogenicity

Revesz syndrome
Dyskeratosis congenita, autosomal dominant 3
Condition: not provided
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA16616926

rs_1060499576

4 SubmittersRCV000477835 RCV000578829 RCV002525744

NM_002582.4(PARN):c.1330C>T (p.Arg444Cys)

SNV
Germline

Chr16:14554140

Conflicting classifications of pathogenicity

Condition: not provided
Dyskeratosis congenita, autosomal recessive 6
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
Pulmonary fibrosis

Criteria Provided
Conflicting Classifications

CA7912056

rs_765981944

3 SubmittersRCV000484657 RCV001308486 RCV002509408

NM_001283009.2(RTEL1):c.1648C>T (p.Arg550Cys)

SNV
Germline

Chr20:63688312

Conflicting classifications of pathogenicity

Condition: not provided
Dyskeratosis congenita, autosomal recessive 5
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita, autosomal recessive 5
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA9964910

rs_369419645

5 SubmittersRCV000478358 RCV000688506 RCV000984211 RCV002255417

NM_001363.5(DKC1):c.1054A>G (p.Thr352Ala)

SNV
Germline

ChrX:154773148

Likely pathogenic

Dyskeratosis congenita, X-linked

No Assertion Criteria Provided

CA414895026

rs_1114167422

1 SubmittersRCV000491810

NR_001566.2(TERC):n.443C>A

SNV
Germline

Chr3:169764618

Likely pathogenic

Dyskeratosis congenita, autosomal dominant 1

Criteria Provided
Single Submitter

CA436714714

rs_1553915577

1 SubmittersRCV000500627

NR_001566.2(TERC):n.306T>G

SNV
Germline

Chr3:169764755

Likely pathogenic

Dyskeratosis congenita, autosomal dominant 1

Criteria Provided
Single Submitter

CA436715097

rs_1553915591

1 SubmittersRCV000503728

NM_198253.3(TERT):c.2329G>A (p.Val777Met)

SNV
Germline

Chr5:1272238

Conflicting classifications of pathogenicity

not specified
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
TERT-related disorder

Criteria Provided
Conflicting Classifications

CA359076368

rs_1554040129

3 SubmittersRCV000500578 RCV003766854 RCV004535624

NM_198253.3(TERT):c.2301A>G (p.Thr767=)

SNV
Germline

Chr5:1272266

Conflicting classifications of pathogenicity

not specified
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Condition: not provided
Dyskeratosis congenita
TERT-related disorder

Criteria Provided
Conflicting Classifications

CA112944751

rs_374592280

5 SubmittersRCV000500257 RCV002524308 RCV003437237 RCV004559133 RCV004535623

NM_198253.3(TERT):c.2058C>G (p.Ile686Met)

SNV
Germline

Chr5:1279363

Likely pathogenic

Dyskeratosis congenita

Criteria Provided
Single Submitter

CA359080298

rs_745590324

1 SubmittersRCV000500038

NM_198253.3(TERT):c.2011C>G (p.Arg671Gly)

SNV
Germline

Chr5:1279410

Conflicting classifications of pathogenicity

Dyskeratosis congenita
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Conflicting Classifications

CA359080693

rs_1060503011

2 SubmittersRCV000502929 RCV002524314

NM_198253.3(TERT):c.1462C>T (p.Leu488Phe)

SNV
Germline

Chr5:1293424

Conflicting classifications of pathogenicity

not specified
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Conflicting Classifications

CA3184839

rs_746216837

2 SubmittersRCV000502511 RCV002524311

NM_198253.3(TERT):c.943C>A (p.Arg315Ser)

SNV
Germline

Chr5:1293943

Conflicting classifications of pathogenicity

not specified
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA359056111

rs_1554042911

3 SubmittersRCV000503974 RCV002524312 RCV004559136

NM_198253.3(TERT):c.264G>C (p.Leu88=)

SNV
Germline

Chr5:1294622

Conflicting classifications of pathogenicity

not specified
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA3184998

rs_768398792

3 SubmittersRCV000502707 RCV002527298 RCV004559135

NM_017838.4(NHP2):c.160+9G>A

SNV
Germline

Chr5:178153649

Conflicting classifications of pathogenicity

not specified
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA3589270

rs_756638436

2 SubmittersRCV000499806 RCV003530056

NM_001082486.2(ACD):c.22G>A (p.Val8Ile)

SNV
Germline

Chr16:67660199

Conflicting classifications of pathogenicity

not specified
Dyskeratosis congenita, autosomal dominant 6
Condition: not provided
Inborn genetic diseases
ACD-related disorder

Criteria Provided
Conflicting Classifications

CA8114847

rs_149365469

10 SubmittersRCV000503600 RCV000694462 RCV001702497 RCV003243155 RCV003962366

NM_025099.6(CTC1):c.3605G>A (p.Arg1202Gln)

SNV
Germline

Chr17:8228229

Conflicting classifications of pathogenicity

not specified
Dyskeratosis congenita
Cerebroretinal microangiopathy with calcifications and cysts 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8371698

rs_778830884

4 SubmittersRCV000500962 RCV000818931 RCV001807274 RCV004023367

NM_025099.6(CTC1):c.3222-4A>G

SNV
Germline

Chr17:8228896

Conflicting classifications of pathogenicity

not specified
Cerebroretinal microangiopathy with calcifications and cysts 1
Dyskeratosis congenita
CTC1-related disorder

Criteria Provided
Conflicting Classifications

CA8371823

rs_562479062

4 SubmittersRCV000502629 RCV001807272 RCV000869171 RCV003900040

NM_025099.6(CTC1):c.363G>A (p.Ser121=)

SNV
Germline

Chr17:8238464

Conflicting classifications of pathogenicity

not specified
Dyskeratosis congenita
Cerebroretinal microangiopathy with calcifications and cysts 1

Criteria Provided
Conflicting Classifications

CA8372648

rs_770555372

3 SubmittersRCV000502493 RCV001415273 RCV001807271

NM_025099.6(CTC1):c.147C>T (p.Val49=)

SNV
Germline

Chr17:8243035

Conflicting classifications of pathogenicity

not specified
Dyskeratosis congenita
Cerebroretinal microangiopathy with calcifications and cysts 1
Condition: not provided
CTC1-related disorder

Criteria Provided
Conflicting Classifications

CA8372704

rs_201492796

9 SubmittersRCV000504067 RCV000530550 RCV001807273 RCV001531253 RCV003960159

NM_025099.6(CTC1):c.13C>T (p.Arg5Trp)

SNV
Germline

Chr17:8248024

Conflicting classifications of pathogenicity

not specified
Dyskeratosis congenita
Cerebroretinal microangiopathy with calcifications and cysts 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8372764

rs_201280372

6 SubmittersRCV000501146 RCV000634521 RCV001172451 RCV002527228

NM_001283009.2(RTEL1):c.49C>T (p.Pro17Ser)

SNV
Germline

Chr20:63659451

Likely pathogenic

Dyskeratosis congenita

Criteria Provided
Single Submitter

CA409657490

rs_1555899096

1 SubmittersRCV000503722

NM_001283009.2(RTEL1):c.1135+1G>A

SNV
Germline

Chr20:63679947

Pathogenic/Likely pathogenic

Dyskeratosis congenita
Acute myeloid leukemia
Pulmonary fibrosis
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita, autosomal recessive 5

Criteria Provided
Multiple Submitters
No Conflicts

CA409674081

rs_1555903332

4 SubmittersRCV000503881 RCV001172446 RCV002509415 RCV003766850

NM_001283009.2(RTEL1):c.1349-9G>A

SNV
Germline

Chr20:63687629

Conflicting classifications of pathogenicity

not specified
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita, autosomal recessive 5
Dyskeratosis congenita, autosomal dominant 1
RTEL1-related disorder

Criteria Provided
Conflicting Classifications

CA9964776

rs_772899702

5 SubmittersRCV000501430 RCV000651123 RCV001275092 RCV004541568

NM_001283009.2(RTEL1):c.2612C>T (p.Pro871Leu)

SNV
Germline

Chr20:63691797

Conflicting classifications of pathogenicity

not specified
Dyskeratosis congenita, autosomal recessive 5
Dyskeratosis congenita, autosomal recessive 5
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA9965429

rs_144002969

4 SubmittersRCV000501006 RCV000673277 RCV000695080 RCV001834617

NM_001283009.2(RTEL1):c.2852-9C>T

SNV
Germline

Chr20:63693134

Conflicting classifications of pathogenicity

not specified
Dyskeratosis congenita, autosomal recessive 5
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3

Criteria Provided
Conflicting Classifications

CA9965631

rs_375886371

2 SubmittersRCV000504110 RCV002060143

NM_001283009.2(RTEL1):c.2987C>A (p.Pro996His)

SNV
Germline

Chr20:63693278

Conflicting classifications of pathogenicity

not specified
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita, autosomal recessive 5
Dyskeratosis congenita
Inborn genetic diseases
RTEL1-related disorder

Criteria Provided
Conflicting Classifications

CA9965693

rs_373210484

7 SubmittersRCV000503523 RCV000765496 RCV001272192 RCV002446980 RCV004535619

NM_001283009.2(RTEL1):c.3381C>T (p.Arg1127=)

SNV
Germline

Chr20:63695103

Conflicting classifications of pathogenicity

not specified
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita, autosomal recessive 5
RTEL1-related disorder

Criteria Provided
Conflicting Classifications

CA9966011

rs_368588082

3 SubmittersRCV000499520 RCV001458338 RCV004535617

NM_001363.5(DKC1):c.1255T>A (p.Tyr419Asn)

SNV
Germline

ChrX:154774701

Likely pathogenic

Dyskeratosis congenita, X-linked

Criteria Provided
Single Submitter

CA414898480

rs_1557265435

1 SubmittersRCV000501902

NM_198253.3(TERT):c.359G>C (p.Arg120Pro)

SNV
Germline

Chr5:1294527

Conflicting classifications of pathogenicity

not specified
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA359058195

rs_1554043083

3 SubmittersRCV000507795 RCV003766883 RCV004559141

NM_198253.3(TERT):c.2947C>T (p.His983Tyr)

SNV
Germline

Chr5:1260497

Conflicting classifications of pathogenicity

Condition: not provided
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Conflicting Classifications

CA359069737

rs_1554038803

4 SubmittersRCV000509390 RCV002231191 RCV002527380

NM_198253.3(TERT):c.2320C>T (p.Arg774Ter)

SNV
Germline

Chr5:1272247

Pathogenic

Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

rs_770066110

2 SubmittersRCV000677346 RCV002525003

NM_198253.3(TERT):c.2287-5G>A

SNV
Germline

Chr5:1272285

Conflicting classifications of pathogenicity

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
7 conditions
Condition: not provided
not specified
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
TERT-related disorder

Criteria Provided
Conflicting Classifications

rs_561426406

7 SubmittersRCV000677347 RCV000765795 RCV001755759 RCV001821447 RCV002525004 RCV003476211 RCV004535664

NM_198253.3(TERT):c.2051A>G (p.Asp684Gly)

SNV
Germline

Chr5:1279370

Conflicting classifications of pathogenicity

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Dyskeratosis congenita, autosomal dominant 2
Interstitial lung disease 2
Dyskeratosis congenita, autosomal dominant 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_776981958

3 SubmittersRCV000677345 RCV000799933 RCV001508165

NM_001363.5(DKC1):c.203A>G (p.His68Arg)

SNV
Unknown

ChrX:154765938

Pathogenic

Dyskeratosis congenita, X-linked

Criteria Provided
Single Submitter

rs_1557264102

1 SubmittersRCV000677353

NR_001566.2(TERC):n.128A>G

SNV
Germline

Chr3:169764933

Conflicting classifications of pathogenicity

Condition: not provided
Dyskeratosis congenita, autosomal dominant 1

Criteria Provided
Conflicting Classifications

CA436715711

rs_1553915610

2 SubmittersRCV000523477 RCV003614040

NM_001283009.2(RTEL1):c.396-26C>T

SNV
Germline

Chr20:63662520

Pathogenic/Likely pathogenic

Condition: not provided
Dyskeratosis congenita, autosomal recessive 5
Dyskeratosis congenita
Dyskeratosis congenita, autosomal recessive 5
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3

Criteria Provided
Multiple Submitters
No Conflicts

CA9964243

rs_80224512

6 SubmittersRCV000522006 RCV000670829 RCV001276031 RCV002497014

NM_198253.3(TERT):c.2580C>T (p.Asp860=)

SNV
Germline

Chr5:1268522

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Aplastic anemia
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA3184461

rs_751752830

3 SubmittersRCV001153601 RCV001153600 RCV001153599 RCV002530145 RCV004559199

NM_198253.3(TERT):c.2353C>G (p.Pro785Ala)

SNV
Germline

Chr5:1272214

Conflicting classifications of pathogenicity

Condition: not provided
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Conflicting Classifications

CA3184560

rs_755822641

2 SubmittersRCV002466532 RCV002530136

NM_198253.3(TERT):c.1937G>A (p.Arg646His)

SNV
Germline

Chr5:1280171

Conflicting classifications of pathogenicity

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA359081026

rs_779338296

2 SubmittersRCV002530114 RCV004559182

NM_198253.3(TERT):c.2286C>T (p.His762=)

SNV
Germline

Chr5:1278641

Conflicting classifications of pathogenicity

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
TERT-related disorder

Criteria Provided
Conflicting Classifications

CA3184610

rs_768062052

2 SubmittersRCV002530135 RCV004543198

NM_198253.3(TERT):c.2185A>G (p.Ile729Val)

SNV
Germline

Chr5:1278742

Conflicting classifications of pathogenicity

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Condition: not provided
TERT-related disorder
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA3184631

rs_753929279

4 SubmittersRCV002530130 RCV003228951 RCV004538046 RCV004559189

NM_198253.3(TERT):c.1939A>C (p.Arg647=)

SNV
Germline

Chr5:1280169

Conflicting classifications of pathogenicity

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Dyskeratosis congenita, autosomal dominant 2
Aplastic anemia
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA3184721

rs_144821759

3 SubmittersRCV001157056 RCV001253988 RCV001157055 RCV002530115 RCV004559183

NM_198253.3(TERT):c.1829G>A (p.Arg610Gln)

SNV
Germline

Chr5:1280279

Conflicting classifications of pathogenicity

Condition: not provided
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA3184746

rs_776763536

3 SubmittersRCV003431098 RCV002530109 RCV004559181

NM_198253.3(TERT):c.779G>A (p.Gly260Asp)

SNV
Germline

Chr5:1294107

Conflicting classifications of pathogenicity

Dyskeratosis congenita
Condition: not provided
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Aplastic anemia

Criteria Provided
Conflicting Classifications

CA3184914

rs_148798048

4 SubmittersRCV002255455 RCV002260647 RCV002530175 RCV003333079

NM_198253.3(TERT):c.193C>G (p.Pro65Ala)

SNV
Germline

Chr5:1294797

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3185021

rs_544215765

6 SubmittersRCV001254604 RCV002256385 RCV002530117 RCV003236816

NM_198253.3(TERT):c.2885G>A (p.Arg962His)

SNV
Germline

Chr5:1260559

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA3184350

rs_759490631

3 SubmittersRCV003230269 RCV002530154 RCV004559205

NM_198253.3(TERT):c.2666G>A (p.Arg889Gln)

SNV
Germline

Chr5:1264581

Conflicting classifications of pathogenicity

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA112938010

rs_532158398

2 SubmittersRCV002530148 RCV004559201

NM_198253.3(TERT):c.1957C>T (p.Arg653Cys)

SNV
Germline

Chr5:1279464

Conflicting classifications of pathogenicity

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Conflicting Classifications

CA3184698

rs_372272356

2 SubmittersRCV002530120 RCV003470764

NM_198253.3(TERT):c.3302C>T (p.Thr1101Met)

SNV
Germline

Chr5:1253825

Conflicting classifications of pathogenicity

Dyskeratosis congenita
Condition: not provided
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Conflicting Classifications

CA3184216

rs_764602705

4 SubmittersRCV002256386 RCV002307542 RCV002530163

NM_198253.3(TERT):c.2652C>T (p.Leu884=)

SNV
Germline

Chr5:1266466

Conflicting classifications of pathogenicity

Condition: not provided
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA3184439

rs_374309472

3 SubmittersRCV001770465 RCV002530147 RCV004559200

NM_198253.3(TERT):c.1269C>T (p.Ala423=)

SNV
Germline

Chr5:1293617

Conflicting classifications of pathogenicity

Aplastic anemia
Dyskeratosis congenita, autosomal dominant 2
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
not specified
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Condition: not provided
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA3184862

rs_190411812

5 SubmittersRCV001155486 RCV001155485 RCV001155487 RCV001821573 RCV002530096 RCV003992323 RCV004559172

NM_198253.3(TERT):c.838G>A (p.Glu280Lys)

SNV
Germline

Chr5:1294048

Conflicting classifications of pathogenicity

Interstitial lung disease 2
Condition: not provided
not specified
Dyskeratosis congenita
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Acute myeloid leukemia

Criteria Provided
Conflicting Classifications

CA3184904

rs_199701877

8 SubmittersRCV000987502 RCV001576510 RCV001821580 RCV002255456 RCV002530177 RCV003316717

NM_198253.3(TERT):c.645C>T (p.Gly215=)

SNV
Germline

Chr5:1294241

Conflicting classifications of pathogenicity

Aplastic anemia
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Dyskeratosis congenita, autosomal dominant 2
Condition: not provided
not specified
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA3184937

rs_768426236

7 SubmittersRCV001157267 RCV001157266 RCV001157268 RCV001529708 RCV001821579 RCV002530173 RCV004559217

NM_025099.6(CTC1):c.1207-4C>T

SNV
Germline

Chr17:8235289

Conflicting classifications of pathogenicity

Condition: not provided
Dyskeratosis congenita
Cerebroretinal microangiopathy with calcifications and cysts 1
not specified

Criteria Provided
Conflicting Classifications

CA8372419

rs_369904656

7 SubmittersRCV000542061 RCV001087623 RCV001335133 RCV001821517

NM_025099.6(CTC1):c.1564C>T (p.Arg522Trp)

SNV
Germline

Chr17:8234802

Conflicting classifications of pathogenicity

Dyskeratosis congenita
Cerebroretinal microangiopathy with calcifications and cysts 1
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8372315

rs_199698527

4 SubmittersRCV000538568 RCV001839012 RCV001821518 RCV002527700

NM_025099.6(CTC1):c.597G>A (p.Thr199=)

SNV
Germline

Chr17:8238081

Conflicting classifications of pathogenicity

Dyskeratosis congenita
Condition: not provided
Cerebroretinal microangiopathy with calcifications and cysts 1
not specified

Criteria Provided
Conflicting Classifications

CA8372602

rs_373023392

6 SubmittersRCV000541269 RCV003419929 RCV001807296 RCV001821520

NM_025099.6(CTC1):c.34-9T>G

SNV
Germline

Chr17:8243157

Conflicting classifications of pathogenicity

Dyskeratosis congenita
Cerebroretinal microangiopathy with calcifications and cysts 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8372726

rs_201195157

5 SubmittersRCV000547685 RCV001172447 RCV001569942

NM_025099.6(CTC1):c.1958G>A (p.Arg653Gln)

SNV
Germline

Chr17:8232463

Conflicting classifications of pathogenicity

Dyskeratosis congenita
Cerebroretinal microangiopathy with calcifications and cysts 1

Criteria Provided
Conflicting Classifications

CA8372213

rs_775779700

4 SubmittersRCV000533572 RCV000764155

NM_025099.6(CTC1):c.862G>A (p.Val288Met)

SNV
Germline

Chr17:8236273

Conflicting classifications of pathogenicity

Dyskeratosis congenita
Cerebroretinal microangiopathy with calcifications and cysts 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8372533

rs_201553464

6 SubmittersRCV000553611 RCV000764156 RCV001764545

NM_001283009.2(RTEL1):c.971G>A (p.Arg324His)

SNV
Germline

Chr20:63678280

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal recessive 5
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita, autosomal recessive 5
Dyskeratosis congenita
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9964547

rs_113684274

8 SubmittersRCV000536702 RCV001007595 RCV000990339 RCV001829595 RCV002404541 RCV003480684

NM_001363.5(DKC1):c.20T>C (p.Ile7Thr)

SNV
Germline

ChrX:154764902

Conflicting classifications of pathogenicity

Dyskeratosis congenita
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10566951

rs_782343800

2 SubmittersRCV001078718 RCV000733974

NM_001283009.2(RTEL1):c.102+2T>C

SNV
Germline

Chr20:63659506

Pathogenic

Dyskeratosis congenita

Criteria Provided
Single Submitter

CA409657623

rs_1555899111

1 SubmittersRCV000587587

NM_198253.3(TERT):c.2936G>A (p.Arg979Gln)

SNV
Germline

Chr5:1260508

Conflicting classifications of pathogenicity

not specified
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Conflicting Classifications

CA3184345

rs_765566930

4 SubmittersRCV000604673 RCV000855405 RCV002529360

NM_198253.3(TERT):c.3089C>G (p.Thr1030Arg)

SNV
Germline

Chr5:1255355

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita
TERT-related disorder

Criteria Provided
Conflicting Classifications

CA3184291

rs_377419542

3 SubmittersRCV002533393 RCV004559292 RCV004533396

NM_198253.3(TERT):c.2523C>G (p.Leu841=)

SNV
Germline

Chr5:1268579

Conflicting classifications of pathogenicity

Aplastic anemia
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA359074714

rs_1554039733

3 SubmittersRCV001156212 RCV001156210 RCV001156211 RCV002533405 RCV004559304

NM_198253.3(TERT):c.1954G>A (p.Glu652Lys)

SNV
Germline

Chr5:1279467

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
7 conditions
Condition: not provided
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA359080888

rs_1228165704

5 SubmittersRCV002533379 RCV003472038 RCV002485456 RCV003153788 RCV004559285

NM_198253.3(TERT):c.2884C>T (p.Arg962Cys)

SNV
Germline

Chr5:1260560

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Condition: not provided
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Conflicting Classifications

CA3184351

rs_144697790

3 SubmittersRCV002533382 RCV003228970 RCV004568447

NM_198253.3(TERT):c.2228G>A (p.Arg743Gln)

SNV
Germline

Chr5:1278699

Conflicting classifications of pathogenicity

not specified
Dyskeratosis congenita
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Conflicting Classifications

CA3184621

rs_768168259

3 SubmittersRCV001816611 RCV002255492 RCV002533373

NM_198253.3(TERT):c.2689G>A (p.Val897Met)

SNV
Germline

Chr5:1264558

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
TERT-related disorder

Criteria Provided
Conflicting Classifications

CA3184415

rs_559028617

2 SubmittersRCV002533383 RCV004533394

NM_198253.3(TERT):c.2573G>A (p.Arg858Gln)

SNV
Germline

Chr5:1268529

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
TERT-related disorder
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Conflicting Classifications

CA3184463

rs_144779807

3 SubmittersRCV002533386 RCV004544885 RCV004568449

NM_198253.3(TERT):c.3117G>A (p.Thr1039=)

SNV
Germline

Chr5:1255327

Conflicting classifications of pathogenicity

not specified
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA3184281

rs_773595628

3 SubmittersRCV001816610 RCV002533372 RCV004559282

NM_198253.3(TERT):c.1393G>C (p.Val465Leu)

SNV
Germline

Chr5:1293493

Conflicting classifications of pathogenicity

7 conditions
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Condition: not provided
TERT-related disorder

Criteria Provided
Conflicting Classifications

CA3184848

rs_758110675

4 SubmittersRCV000765803 RCV002533376 RCV003236829 RCV004544884

NM_198253.3(TERT):c.892T>A (p.Ser298Thr)

SNV
Germline

Chr5:1293994

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA359056279

rs_1334806555

2 SubmittersRCV002533374 RCV004559283

NM_198253.3(TERT):c.863C>T (p.Ala288Val)

SNV
Germline

Chr5:1294023

Conflicting classifications of pathogenicity

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Condition: not provided
7 conditions
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
TERT-related disorder
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA3184898

rs_774657340

7 SubmittersRCV001293960 RCV002307574 RCV002477438 RCV002533384 RCV004533395 RCV004559287

NM_198253.3(TERT):c.751G>A (p.Val251Ile)

SNV
Germline

Chr5:1294135

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3184920

rs_776569822

2 SubmittersRCV003103822 RCV003328616

NM_198253.3(TERT):c.189G>A (p.Arg63=)

SNV
Germline

Chr5:1294801

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Aplastic anemia
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA443005624

rs_1554043134

3 SubmittersRCV001153059 RCV001153060 RCV001153061 RCV002530518 RCV004559306

NM_198253.3(TERT):c.1526C>T (p.Thr509Met)

SNV
Germline

Chr5:1293360

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA359085170

rs_1554042799

2 SubmittersRCV002533362 RCV004559276

NM_198253.3(TERT):c.569C>T (p.Ala190Val)

SNV
Germline

Chr5:1294317

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3184954

rs_781435225

4 SubmittersRCV001334733 RCV002533389 RCV003325507

NM_002582.4(PARN):c.1843A>G (p.Lys615Glu)

SNV
Germline

Chr16:14446909

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal recessive 6
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
Condition: not provided
PARN-related disorder

Criteria Provided
Conflicting Classifications

CA7911921

rs_368440052

3 SubmittersRCV000653142 RCV001756104 RCV004547823

NM_002582.4(PARN):c.272A>G (p.Tyr91Cys)

SNV
Germline

Chr16:14627161

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal recessive 6
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
Dyskeratosis congenita, autosomal recessive 6
not specified
Condition: not provided
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
PARN-related disorder

Criteria Provided
Conflicting Classifications

CA7912470

rs_201765587

6 SubmittersRCV000653141 RCV000850488 RCV001816642 RCV002223900 RCV003447549 RCV003994067

NM_001082486.2(ACD):c.613A>G (p.Thr205Ala)

SNV
Germline

Chr16:67658960

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 6
Condition: not provided
not specified
ACD-related disorder

Criteria Provided
Conflicting Classifications

CA8114609

rs_139438549

6 SubmittersRCV000652840 RCV003237977 RCV001816641 RCV003953202

NM_025099.6(CTC1):c.3515-10C>T

SNV
Germline

Chr17:8228329

Conflicting classifications of pathogenicity

Dyskeratosis congenita
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA8371726

rs_200225342

4 SubmittersRCV000634511 RCV001702823 RCV001816575

NM_025099.6(CTC1):c.2758+1G>T

SNV
Germline

Chr17:8230562

Pathogenic/Likely pathogenic

Cerebroretinal microangiopathy with calcifications and cysts 1
Dyskeratosis congenita

Criteria Provided
Multiple Submitters
No Conflicts

CA8371986

rs_200609323

3 SubmittersRCV000763024 RCV000634497

NM_025099.6(CTC1):c.195T>C (p.Tyr65=)

SNV
Germline

Chr17:8242987

Conflicting classifications of pathogenicity

Dyskeratosis congenita
Cerebroretinal microangiopathy with calcifications and cysts 1

Criteria Provided
Conflicting Classifications

CA8372697

rs_764616648

4 SubmittersRCV000634507 RCV001807312

NM_025099.6(CTC1):c.2461G>T (p.Ala821Ser)

SNV
Germline

Chr17:8231740

Conflicting classifications of pathogenicity

Dyskeratosis congenita
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8372077

rs_771475755

2 SubmittersRCV000634494 RCV003258894

NM_025099.6(CTC1):c.1981G>A (p.Val661Ile)

SNV
Germline

Chr17:8232440

Conflicting classifications of pathogenicity

Dyskeratosis congenita
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8372209

rs_534923467

2 SubmittersRCV000634504 RCV004025447

NM_001283009.2(RTEL1):c.2444G>T (p.Ser815Ile)

SNV
Germline

Chr20:63690835

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal recessive 5
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Condition: not provided
Dyskeratosis congenita
RTEL1-related disorder

Criteria Provided
Conflicting Classifications

CA9965365

rs_150461578

7 SubmittersRCV000651133 RCV001092639 RCV002257910 RCV004533410

NM_001283009.2(RTEL1):c.535G>T (p.Glu179Ter)

SNV
Germline

Chr20:63662886

Pathogenic

Dyskeratosis congenita, autosomal recessive 5
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3

Criteria Provided
Single Submitter

CA409670086

rs_1555899932

1 SubmittersRCV000651087

NM_001283009.2(RTEL1):c.2678C>T (p.Thr893Met)

SNV
Germline

Chr20:63692830

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal recessive 5
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9965497

rs_141717966

4 SubmittersRCV000651138 RCV002257911 RCV003151123 RCV003327441

NM_001283009.2(RTEL1):c.959T>C (p.Met320Thr)

SNV
Germline

Chr20:63678268

Conflicting classifications of pathogenicity

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita, autosomal recessive 5
Condition: not provided
Dyskeratosis congenita
not specified

Criteria Provided
Conflicting Classifications

CA9964545

rs_143550996

6 SubmittersRCV000651112 RCV001564499 RCV001276035 RCV003151119

NM_198253.3(TERT):c.1843G>A (p.Ala615Thr)

SNV
Germline

Chr5:1280265

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Conflicting Classifications

rs_112614087

3 SubmittersRCV000659010 RCV001816660 RCV002534308

NM_001283009.2(RTEL1):c.1037+1G>T

SNV
Unknown

Chr20:63678347

Likely pathogenic

Dyskeratosis congenita, autosomal recessive 5

Criteria Provided
Multiple Submitters
No Conflicts

rs_895722334

2 SubmittersRCV000669234

NM_001283009.2(RTEL1):c.2851+1G>T

SNV
Unknown

Chr20:63693004

Likely pathogenic

Dyskeratosis congenita, autosomal recessive 5

Criteria Provided
Multiple Submitters
No Conflicts

rs_1421904176

2 SubmittersRCV000674227

NM_001283009.2(RTEL1):c.2892T>G (p.Phe964Leu)

SNV
Germline

Chr20:63693183

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal recessive 5
Dyskeratosis congenita, autosomal recessive 5
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita
RTEL1-related disorder

Criteria Provided
Conflicting Classifications

rs_1470145133

5 SubmittersRCV000669062 RCV001217029 RCV003323669 RCV004535683

NM_001283009.2(RTEL1):c.396-74A>C

SNV
Unknown

Chr20:63662472

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal recessive 5

Criteria Provided
Conflicting Classifications

rs_1555899773

2 SubmittersRCV000672502

NM_001283009.2(RTEL1):c.1596-1G>A

SNV
Germline

Chr20:63688138

Likely pathogenic

Dyskeratosis congenita, autosomal recessive 5
Dyskeratosis congenita, autosomal recessive 5
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555811386

2 SubmittersRCV000667674 RCV002530720

NM_001283009.2(RTEL1):c.525C>A (p.Tyr175Ter)

SNV
Unknown

Chr20:63662876

Likely pathogenic

Dyskeratosis congenita, autosomal recessive 5

Criteria Provided
Single Submitter

rs_1161373315

1 SubmittersRCV000671264

NM_001283009.2(RTEL1):c.2614C>T (p.Arg872Ter)

SNV
Germline

Chr20:63691799

Pathogenic/Likely pathogenic

Dyskeratosis congenita, autosomal recessive 5
Dyskeratosis congenita, autosomal recessive 5
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_961593162

5 SubmittersRCV000669629 RCV000763060 RCV004535684

NM_001283009.2(RTEL1):c.2881A>T (p.Lys961Ter)

SNV
Germline

Chr20:63693172

Pathogenic/Likely pathogenic

Dyskeratosis congenita, autosomal recessive 5
Dyskeratosis congenita, autosomal recessive 5
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555813144

2 SubmittersRCV000666445 RCV003767949

NM_001283009.2(RTEL1):c.3130C>T (p.Gln1044Ter)

SNV
Germline

Chr20:63694761

Pathogenic/Likely pathogenic

Dyskeratosis congenita, autosomal recessive 5
Abnormality of blood and blood-forming tissues

Criteria Provided
Multiple Submitters
No Conflicts

rs_1415449695

2 SubmittersRCV000667410 RCV001814212

NM_001283009.2(RTEL1):c.3344-2A>G

SNV
Unknown

Chr20:63695064

Likely pathogenic

Dyskeratosis congenita, autosomal recessive 5

Criteria Provided
Single Submitter

rs_980695424

1 SubmittersRCV000669994

NM_001283009.2(RTEL1):c.3376C>T (p.Gln1126Ter)

SNV
Unknown

Chr20:63695098

Likely pathogenic

Dyskeratosis congenita, autosomal recessive 5

Criteria Provided
Multiple Submitters
No Conflicts

rs_778734749

2 SubmittersRCV000672496

NM_001283009.2(RTEL1):c.3665G>T (p.Gly1222Val)

SNV
Germline

Chr20:63695493

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal recessive 5
Condition: not provided
Dyskeratosis congenita, autosomal recessive 5
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3

Criteria Provided
Conflicting Classifications

rs_1177347580

3 SubmittersRCV000673607 RCV000997811 RCV002531340

NM_001283009.2(RTEL1):c.630C>A (p.Tyr210Ter)

SNV
Unknown

Chr20:63667484

Likely pathogenic

Dyskeratosis congenita, autosomal recessive 5

Criteria Provided
Single Submitter

rs_1555901000

1 SubmittersRCV000670722

NM_001283009.2(RTEL1):c.649C>T (p.Gln217Ter)

SNV
Germline

Chr20:63667503

Pathogenic/Likely pathogenic

Dyskeratosis congenita, autosomal recessive 5
Dyskeratosis congenita, autosomal recessive 5
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3

Criteria Provided
Multiple Submitters
No Conflicts

rs_780546933

4 SubmittersRCV000674750 RCV001855614

NM_001283009.2(RTEL1):c.2260C>T (p.Arg754Ter)

SNV
Germline

Chr20:63690205

Pathogenic/Likely pathogenic

Dyskeratosis congenita, autosomal recessive 5
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita, autosomal recessive 5

Criteria Provided
Multiple Submitters
No Conflicts

rs_377024903

3 SubmittersRCV000667829 RCV001384643

NM_001283009.2(RTEL1):c.2265+2T>A

SNV
Unknown

Chr20:63690212

Likely pathogenic

Dyskeratosis congenita, autosomal recessive 5

Criteria Provided
Single Submitter

rs_1555811966

1 SubmittersRCV000671417

NM_001283009.2(RTEL1):c.2414-2A>G

SNV
Unknown

Chr20:63690803

Likely pathogenic

Dyskeratosis congenita, autosomal recessive 5

Criteria Provided
Single Submitter

rs_1555812178

1 SubmittersRCV000672386

NM_001283009.2(RTEL1):c.2653-2A>C

SNV
Unknown

Chr20:63692803

Likely pathogenic

Dyskeratosis congenita, autosomal recessive 5

Criteria Provided
Single Submitter

rs_1555812834

1 SubmittersRCV000674721

NM_001283009.2(RTEL1):c.3110-2A>C

SNV
Germline

Chr20:63694739

Likely pathogenic

Dyskeratosis congenita, autosomal recessive 5
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita, autosomal recessive 5
Dyskeratosis congenita

Criteria Provided
Multiple Submitters
No Conflicts

rs_377461417

4 SubmittersRCV000665184 RCV001377425 RCV001829829

NM_001283009.2(RTEL1):c.3110-2A>T

SNV
Germline

Chr20:63694739

Pathogenic/Likely pathogenic

Dyskeratosis congenita, autosomal recessive 5
Dyskeratosis congenita, autosomal recessive 5
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita

Criteria Provided
Multiple Submitters
No Conflicts

rs_377461417

4 SubmittersRCV000667028 RCV001210219 RCV001829840

NM_198253.3(TERT):c.1450G>C (p.Glu484Gln)

SNV
Germline

Chr5:1293436

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_1561213355

2 SubmittersRCV002533479 RCV004559621

NM_198253.3(TERT):c.702G>C (p.Leu234Phe)

SNV
Germline

Chr5:1294184

Conflicting classifications of pathogenicity

Dyskeratosis congenita
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Conflicting Classifications

rs_754359147

3 SubmittersRCV001775147 RCV002532334

NM_198253.3(TERT):c.553C>T (p.Arg185Trp)

SNV
Germline

Chr5:1294333

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_770436206

3 SubmittersRCV002544769 RCV003388593 RCV004559353

NM_198253.3(TERT):c.180G>A (p.Trp60Ter)

SNV
Germline

Chr5:1294810

Pathogenic

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Single Submitter

rs_1554043139

1 SubmittersRCV002544806

NM_017838.4(NHP2):c.143A>G (p.Tyr48Cys)

SNV
Germline

Chr5:178153675

Conflicting classifications of pathogenicity

Dyskeratosis congenita
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_200150979

2 SubmittersRCV000704403 RCV002508251

NM_198253.3(TERT):c.2591T>C (p.Leu864Pro)

SNV
Germline

Chr5:1266527

Conflicting classifications of pathogenicity

not specified
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Telomere syndrome

Criteria Provided
Conflicting Classifications

rs_1561194110

3 SubmittersRCV001816730 RCV002533689 RCV003325408

NM_198253.3(TERT):c.2432G>A (p.Arg811His)

SNV
Germline

Chr5:1271155

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_552708120

2 SubmittersRCV002533539 RCV003222108

NM_198253.3(TERT):c.1025G>A (p.Arg342Gln)

SNV
Germline

Chr5:1293861

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_773366454

2 SubmittersRCV002547117 RCV004559356

NM_198253.3(TERT):c.3116C>T (p.Thr1039Met)

SNV
Germline

Chr5:1255328

Conflicting classifications of pathogenicity

Dyskeratosis congenita
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Conflicting Classifications

rs_763381198

2 SubmittersRCV002256472 RCV002531489

NM_198253.3(TERT):c.2263G>A (p.Val755Ile)

SNV
Germline

Chr5:1278664

Conflicting classifications of pathogenicity

Aplastic anemia
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Dyskeratosis congenita, autosomal dominant 2
not specified
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Conflicting Classifications

rs_576633619

4 SubmittersRCV001151511 RCV001151512 RCV001151513 RCV001816702 RCV002547120

NM_198253.3(TERT):c.554G>T (p.Arg185Leu)

SNV
Germline

Chr5:1294332

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_749187042

2 SubmittersRCV002534379 RCV004559625

NM_002582.4(PARN):c.466G>T (p.Ala156Ser)

SNV
Germline

Chr16:14610732

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal recessive 6
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
not specified
Dyskeratosis congenita, autosomal recessive 6
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_200103366

4 SubmittersRCV000689559 RCV001816705 RCV001335956 RCV003420224

NM_025099.6(CTC1):c.3049C>T (p.Gln1017Ter)

SNV
Germline

Chr17:8229409

Pathogenic

Dyskeratosis congenita

Criteria Provided
Single Submitter

rs_1567599296

1 SubmittersRCV000699292

NM_025099.6(CTC1):c.1186C>T (p.Arg396Ter)

SNV
Germline

Chr17:8235851

Pathogenic

Dyskeratosis congenita

Criteria Provided
Single Submitter

rs_764019241

1 SubmittersRCV000699564

NM_001363.5(DKC1):c.149C>A (p.Ser50Tyr)

SNV
Germline

ChrX:154765508

Likely pathogenic

Dyskeratosis congenita

Criteria Provided
Single Submitter

rs_1569558474

1 SubmittersRCV000696342

NM_001363.5(DKC1):c.622G>A (p.Asp208Asn)

SNV
Germline

ChrX:154767364

Conflicting classifications of pathogenicity

Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_374771308

2 SubmittersRCV000687325

NM_025099.6(CTC1):c.277C>T (p.Gln93Ter)

SNV
Germline

Chr17:8238550

Pathogenic

Dyskeratosis congenita

Criteria Provided
Single Submitter

rs_767991627

1 SubmittersRCV000704293

NM_001363.5(DKC1):c.1456G>A (p.Gly486Arg)

SNV
Germline

ChrX:154776304

Conflicting classifications of pathogenicity

History of neurodevelopmental disorder
Dyskeratosis congenita
Condition: not provided
not specified
DKC1-related disorder

Criteria Provided
Conflicting Classifications

rs_150319104

7 SubmittersRCV000721040 RCV000861992 RCV001573187 RCV001816790 RCV004026918

NM_025099.6(CTC1):c.3604C>T (p.Arg1202Ter)

SNV
Germline

Chr17:8228230

Conflicting classifications of pathogenicity

Condition: not provided
Dyskeratosis congenita
Cerebroretinal microangiopathy with calcifications and cysts 1
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_147714487

8 SubmittersRCV000732314 RCV001081646 RCV001330034 RCV001816802 RCV004027034

NM_001134225.2(INPP4A):c.36C>T (p.Ala12=)

SNV
Germline

Chr2:98520084

Likely pathogenic

Dyskeratosis congenita, autosomal dominant 1

Criteria Provided
Single Submitter

rs_1306444586

1 SubmittersRCV000761361

NM_001283009.2(RTEL1):c.732G>A (p.Gly244=)

SNV
Germline

Chr20:63672588

Conflicting classifications of pathogenicity

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita, autosomal recessive 5

Criteria Provided
Conflicting Classifications

rs_919917378

2 SubmittersRCV000768303

NM_001283009.2(RTEL1):c.3343+8G>A

SNV
Germline

Chr20:63694982

Conflicting classifications of pathogenicity

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita, autosomal recessive 5

Criteria Provided
Conflicting Classifications

rs_768036242

2 SubmittersRCV000768304

NM_025099.6(CTC1):c.2923A>G (p.Arg975Gly)

SNV
Germline

Chr17:8230304

Conflicting classifications of pathogenicity

Cerebroretinal microangiopathy with calcifications and cysts 1
Condition: not provided
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_199473678

6 SubmittersRCV000778131 RCV001560718 RCV001869130

NM_198253.3(TERT):c.2839T>C (p.Ser947Pro)

SNV
Germline

Chr5:1264408

Pathogenic

Dyskeratosis congenita

No Assertion Criteria Provided

rs_915854031

1 SubmittersRCV000786862

NM_198253.3(TERT):c.3346G>A (p.Glu1116Lys)

SNV
Germline

Chr5:1253781

Conflicting classifications of pathogenicity

TERT-related disorder
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_1196160200

3 SubmittersRCV004540104 RCV002534659 RCV004559670

NM_198253.3(TERT):c.3323C>T (p.Pro1108Leu)

SNV
Germline

Chr5:1253804

Conflicting classifications of pathogenicity

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Aplastic anemia
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_376255453

4 SubmittersRCV001152719 RCV001152717 RCV001152718 RCV002534874 RCV003233860

NM_198253.3(TERT):c.3310A>T (p.Ser1104Cys)

SNV
Germline

Chr5:1253817

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_1579541768

2 SubmittersRCV002534746 RCV004559675

NM_198253.3(TERT):c.3187G>A (p.Gly1063Ser)

SNV
Germline

Chr5:1254476

Likely pathogenic

Condition: not provided
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Pulmonary fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Multiple Submitters
No Conflicts

rs_938938578

4 SubmittersRCV002508262 RCV002534853 RCV002509553 RCV004569706

NM_198253.3(TERT):c.2449G>A (p.Ala817Thr)

SNV
Germline

Chr5:1271138

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Conflicting Classifications

rs_778051907

3 SubmittersRCV002534756 RCV004559676 RCV004569603

NM_198253.3(TERT):c.2248G>A (p.Ala750Thr)

SNV
Germline

Chr5:1278679

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_1579574831

2 SubmittersRCV002535502 RCV004559700

NM_198253.3(TERT):c.2221G>T (p.Val741Leu)

SNV
Germline

Chr5:1278706

Conflicting classifications of pathogenicity

not specified
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Conflicting Classifications

rs_150819225

3 SubmittersRCV001816876 RCV002537289 RCV004569650

NM_198253.3(TERT):c.2108C>T (p.Pro703Leu)

SNV
Germline

Chr5:1279313

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_564647937

3 SubmittersRCV001250511 RCV002537414 RCV004559695

NM_198253.3(TERT):c.2105C>T (p.Pro702Leu)

SNV
Germline

Chr5:1279316

Likely pathogenic

Pulmonary fibrosis
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Single Submitter

rs_754809046

2 SubmittersRCV002509550 RCV002538055

NM_198253.3(TERT):c.2053G>A (p.Asp685Asn)

SNV
Germline

Chr5:1279368

Likely pathogenic

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Single Submitter

rs_1579575848

1 SubmittersRCV002535497

NM_198253.3(TERT):c.1864C>T (p.Arg622Cys)

SNV
Germline

Chr5:1280244

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1579577192

2 SubmittersRCV002534884 RCV003229867

NM_198253.3(TERT):c.1692G>A (p.Thr564=)

SNV
Germline

Chr5:1282506

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Condition: not provided
TERT-related disorder

Criteria Provided
Conflicting Classifications

rs_377217777

3 SubmittersRCV002538048 RCV003432774 RCV004528305

NM_198253.3(TERT):c.1552G>T (p.Ala518Ser)

SNV
Germline

Chr5:1293334

Conflicting classifications of pathogenicity

Dyskeratosis congenita
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Conflicting Classifications

rs_551522837

3 SubmittersRCV002256553 RCV003103847

NM_198253.3(TERT):c.1450G>T (p.Glu484Ter)

SNV
Germline

Chr5:1293436

Pathogenic

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Single Submitter

rs_1561213355

1 SubmittersRCV002538152

NM_198253.3(TERT):c.1323G>T (p.Glu441Asp)

SNV
Germline

Chr5:1293563

Conflicting classifications of pathogenicity

Dyskeratosis congenita
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Conflicting Classifications

rs_1213914911

2 SubmittersRCV004559663 RCV002534602

NM_198253.3(TERT):c.895G>A (p.Val299Met)

SNV
Germline

Chr5:1293991

Conflicting classifications of pathogenicity

7 conditions
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Conflicting Classifications

rs_756624928

2 SubmittersRCV002477800 RCV002536948

NM_198253.3(TERT):c.737C>T (p.Pro246Leu)

SNV
Germline

Chr5:1294149

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_377315722

2 SubmittersRCV002535442 RCV004559696

NM_198253.3(TERT):c.719G>A (p.Arg240His)

SNV
Germline

Chr5:1294167

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_751231538

2 SubmittersRCV002535469 RCV004559698

NM_198253.3(TERT):c.688C>T (p.Arg230Ter)

SNV
Germline

Chr5:1294198

Pathogenic

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Single Submitter

rs_989271195

1 SubmittersRCV002538017

NM_198253.3(TERT):c.567C>A (p.His189Gln)

SNV
Germline

Chr5:1294319

Conflicting classifications of pathogenicity

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Condition: not provided
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_747935528

3 SubmittersRCV002538019 RCV003332255 RCV004559667

NM_198253.3(TERT):c.566A>G (p.His189Arg)

SNV
Germline

Chr5:1294320

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_769638625

2 SubmittersRCV002537390 RCV004559691

NM_001099274.3(TINF2):c.1307C>T (p.Ala436Val)

SNV
Germline

Chr14:24239846

Conflicting classifications of pathogenicity

Dyskeratosis congenita
Revesz syndrome
Dyskeratosis congenita, autosomal dominant 3

Criteria Provided
Conflicting Classifications

rs_369249473

3 SubmittersRCV000819774 RCV001109555 RCV001109556

NM_001099274.3(TINF2):c.28G>T (p.Ala10Ser)

SNV
Germline

Chr14:24242305

Conflicting classifications of pathogenicity

Dyskeratosis congenita
TINF2-related disorder

Criteria Provided
Conflicting Classifications

rs_746625511

2 SubmittersRCV000795300 RCV003892709

NM_025099.6(CTC1):c.2828C>T (p.Pro943Leu)

SNV
Germline

Chr17:8230399

Conflicting classifications of pathogenicity

Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_376216833

2 SubmittersRCV000794761

NM_025099.6(CTC1):c.2291A>G (p.Tyr764Cys)

SNV
Germline

Chr17:8231997

Conflicting classifications of pathogenicity

Dyskeratosis congenita
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_376729433

2 SubmittersRCV000799830 RCV002537114

NM_025099.6(CTC1):c.2278G>A (p.Ala760Thr)

SNV
Germline

Chr17:8232010

Conflicting classifications of pathogenicity

Dyskeratosis congenita
Cerebroretinal microangiopathy with calcifications and cysts 1

Criteria Provided
Conflicting Classifications

rs_139078502

4 SubmittersRCV000807547 RCV001197513

NM_025099.6(CTC1):c.833G>T (p.Gly278Val)

SNV
Germline

Chr17:8236302

Conflicting classifications of pathogenicity

Dyskeratosis congenita
Cerebroretinal microangiopathy with calcifications and cysts 1
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

rs_768853291

6 SubmittersRCV000817639 RCV001807347 RCV001281621 RCV003323734

NM_025099.6(CTC1):c.391G>A (p.Gly131Arg)

SNV
Germline

Chr17:8238436

Conflicting classifications of pathogenicity

Dyskeratosis congenita
Cerebroretinal microangiopathy with calcifications and cysts 1

Criteria Provided
Conflicting Classifications

rs_200137992

3 SubmittersRCV000820755 RCV001270120

NM_001283009.2(RTEL1):c.1301C>T (p.Thr434Met)

SNV
Germline

Chr20:63685825

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal recessive 5
Dyskeratosis congenita, autosomal recessive 5
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita
Condition: not provided
RTEL1-related disorder

Criteria Provided
Conflicting Classifications

rs_77086616

9 SubmittersRCV000990340 RCV000795835 RCV001835962 RCV001508902 RCV004538091

NM_001283009.2(RTEL1):c.2915C>T (p.Thr972Ile)

SNV
Germline

Chr20:63693206

Conflicting classifications of pathogenicity

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita, autosomal recessive 5
Dyskeratosis congenita
Condition: not provided
RTEL1-related disorder

Criteria Provided
Conflicting Classifications

rs_199834369

5 SubmittersRCV000813926 RCV001825634 RCV003132082 RCV004538117

NM_001283009.2(RTEL1):c.2921G>A (p.Arg974Gln)

SNV
Germline

Chr20:63693212

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal recessive 5
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_369716125

3 SubmittersRCV000807655 RCV001273628 RCV004028621

NM_001283009.2(RTEL1):c.3422C>T (p.Pro1141Leu)

SNV
Germline

Chr20:63695144

Conflicting classifications of pathogenicity

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita, autosomal recessive 5
Condition: not provided
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

rs_201682415

6 SubmittersRCV000815059 RCV001560182 RCV003307522 RCV003489905

NM_002582.4(PARN):c.702+5C>T

SNV
Germline

Chr16:14606479

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal recessive 6
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
not specified

Criteria Provided
Conflicting Classifications

rs_368739970

2 SubmittersRCV000808913 RCV001816878

NM_198253.3(TERT):c.1590G>C (p.Pro530=)

SNV
Germline

Chr5:1282608

Conflicting classifications of pathogenicity

not specified
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Conflicting Classifications

rs_1396912668

2 SubmittersRCV000826056 RCV003768563

NM_001363.5(DKC1):c.1167G>A (p.Lys389=)

SNV
Germline

ChrX:154774613

Conflicting classifications of pathogenicity

Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_369066088

2 SubmittersRCV001440717

NM_198253.3(TERT):c.3267C>T (p.Tyr1089=)

SNV
Germline

Chr5:1254396

Conflicting classifications of pathogenicity

not specified
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita
TERT-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_759883263

6 SubmittersRCV001816988 RCV002539055 RCV002256570 RCV004538288 RCV004569802

NM_025099.6(CTC1):c.3498G>A (p.Ser1166=)

SNV
Germline

Chr17:8228519

Conflicting classifications of pathogenicity

Dyskeratosis congenita
Cerebroretinal microangiopathy with calcifications and cysts 1

Criteria Provided
Conflicting Classifications

rs_369209127

3 SubmittersRCV000866336 RCV001807366

NM_025099.6(CTC1):c.24C>A (p.Val8=)

SNV
Germline

Chr17:8248013

Conflicting classifications of pathogenicity

Condition: not provided
Dyskeratosis congenita
Cerebroretinal microangiopathy with calcifications and cysts 1

Criteria Provided
Conflicting Classifications

rs_749818659

3 SubmittersRCV000865988 RCV001448256 RCV001807365

NM_198253.3(TERT):c.2469-9C>T

SNV
Germline

Chr5:1268642

Conflicting classifications of pathogenicity

Dyskeratosis congenita
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Conflicting Classifications

rs_764029536

2 SubmittersRCV002258012 RCV002538978

NM_025099.6(CTC1):c.1946-6C>T

SNV
Germline

Chr17:8232481

Conflicting classifications of pathogenicity

Dyskeratosis congenita
Cerebroretinal microangiopathy with calcifications and cysts 1

Criteria Provided
Conflicting Classifications

rs_369285521

3 SubmittersRCV001122624 RCV001807367

NM_198253.3(TERT):c.2187C>T (p.Ile729=)

SNV
Germline

Chr5:1278740

Conflicting classifications of pathogenicity

not specified
TERT-related disorder
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_200819224

4 SubmittersRCV001817036 RCV004530847 RCV002539221 RCV004559753

NM_025099.6(CTC1):c.1548G>A (p.Pro516=)

SNV
Germline

Chr17:8234818

Conflicting classifications of pathogenicity

Dyskeratosis congenita
Cerebroretinal microangiopathy with calcifications and cysts 1
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_781000475

5 SubmittersRCV000877422 RCV001807369 RCV002264038

NM_198253.3(TERT):c.3296-5C>T

SNV
Germline

Chr5:1253836

Conflicting classifications of pathogenicity

not specified
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Conflicting Classifications

rs_371015305

2 SubmittersRCV001817041 RCV002540025

NM_001283009.2(RTEL1):c.489C>T (p.Cys163=)

SNV
Germline

Chr20:63662840

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal recessive 5
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Condition: not provided
Inborn genetic diseases
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_142058793

5 SubmittersRCV000966294 RCV002066393 RCV004029924 RCV001275074

NM_001283009.2(RTEL1):c.2428G>A (p.Gly810Arg)

SNV
Germline

Chr20:63690819

Conflicting classifications of pathogenicity

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita, autosomal recessive 5
Dyskeratosis congenita
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_545613984

5 SubmittersRCV000883354 RCV001277142 RCV002284449 RCV003169225

NM_001283009.2(RTEL1):c.2810C>T (p.Pro937Leu)

SNV
Germline

Chr20:63692962

Conflicting classifications of pathogenicity

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita, autosomal recessive 5
Dyskeratosis congenita
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_140986557

5 SubmittersRCV000887579 RCV001277148 RCV002434180 RCV003328638

NM_001283009.2(RTEL1):c.2824G>A (p.Asp942Asn)

SNV
Germline

Chr20:63692976

Conflicting classifications of pathogenicity

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita, autosomal recessive 5
Dyskeratosis congenita
RTEL1-related disorder

Criteria Provided
Conflicting Classifications

rs_116247954

4 SubmittersRCV000881683 RCV001830933 RCV004530903

NM_001283009.2(RTEL1):c.94C>T (p.Leu32=)

SNV
Germline

Chr20:63659496

Conflicting classifications of pathogenicity

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita, autosomal recessive 5
Inborn genetic diseases
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_375849124

3 SubmittersRCV000897034 RCV002372522 RCV002258030

NM_002582.4(PARN):c.1874C>T (p.Ser625Leu)

SNV
Germline

Chr16:14436763

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal recessive 6
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_201963032

3 SubmittersRCV000914382 RCV001818850 RCV003169295

NM_001143992.2(WRAP53):c.720A>G (p.Pro240=)

SNV
Germline

Chr17:7700818

Conflicting classifications of pathogenicity

Condition: not provided
Dyskeratosis congenita, autosomal recessive 3
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_199901527

3 SubmittersRCV000920723 RCV001123320 RCV002372558

NM_001143992.2(WRAP53):c.1521C>T (p.His507=)

SNV
Germline

Chr17:7703360

Conflicting classifications of pathogenicity

Condition: not provided
Dyskeratosis congenita, autosomal recessive 3
Dyskeratosis congenita
WRAP53-related disorder

Criteria Provided
Conflicting Classifications

rs_146651237

5 SubmittersRCV000919316 RCV001125416 RCV002390916 RCV003933091

NM_198253.3(TERT):c.3042A>T (p.Ala1014=)

SNV
Germline

Chr5:1255402

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Interstitial lung disease 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1337149388

2 SubmittersRCV001450735 RCV003329351

NM_001082486.2(ACD):c.493+7T>C

SNV
Germline

Chr16:67659222

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 6
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_199626332

3 SubmittersRCV000944739 RCV002268374 RCV003456459

NM_001283009.2(RTEL1):c.1266+9C>T

SNV
Germline

Chr20:63685606

Conflicting classifications of pathogenicity

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita, autosomal recessive 5
RTEL1-related disorder

Criteria Provided
Conflicting Classifications

rs_1601156030

2 SubmittersRCV001491895 RCV004533606

NM_001363.5(DKC1):c.915+10G>A

SNV
Germline

ChrX:154769320

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_1603429509

4 SubmittersRCV000933136 RCV001818904 RCV002066121

NM_001283009.2(RTEL1):c.396-27T>C

SNV
Germline

Chr20:63662519

Conflicting classifications of pathogenicity

Condition: not provided
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita, autosomal recessive 5
Dyskeratosis congenita
RTEL1-related disorder

Criteria Provided
Conflicting Classifications

rs_774523585

4 SubmittersRCV000978133 RCV001493570 RCV001832254 RCV004535990

NM_001283009.2(RTEL1):c.3407C>G (p.Thr1136Ser)

SNV
Germline

Chr20:63695129

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal recessive 5
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_150686112

3 SubmittersRCV000976461 RCV001272199

NM_002582.4(PARN):c.692A>G (p.Glu231Gly)

SNV
Germline

Chr16:14606494

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal recessive 6
Dyskeratosis congenita, autosomal recessive 6
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4

Criteria Provided
Conflicting Classifications

rs_757910862

2 SubmittersRCV000989539 RCV001214004

NM_001283009.2(RTEL1):c.2992+8G>A

SNV
Germline

Chr20:63693291

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal recessive 5
Dyskeratosis congenita, autosomal recessive 5
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3

Criteria Provided
Conflicting Classifications

rs_1236751268

2 SubmittersRCV000990341 RCV001490728

NM_198253.3(TERT):c.3251G>A (p.Arg1084Gln)

SNV
Germline

Chr5:1254412

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_765787352

2 SubmittersRCV002554514 RCV004559893

NM_198253.3(TERT):c.2852G>A (p.Arg951Gln)

SNV
Germline

Chr5:1260592

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_755707625

2 SubmittersRCV002552581 RCV004559859

NM_198253.3(TERT):c.2851C>T (p.Arg951Trp)

SNV
Germline

Chr5:1260593

Conflicting classifications of pathogenicity

Interstitial lung disease 2
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
TERT-related disorder
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_370445231

4 SubmittersRCV002253765 RCV002551377 RCV004536066 RCV004559843

NM_198253.3(TERT):c.2704A>T (p.Lys902Ter)

SNV
Germline

Chr5:1264543

Pathogenic

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Single Submitter

rs_1748461171

1 SubmittersRCV002554599

NM_198253.3(TERT):c.2145C>T (p.Gly715=)

SNV
Germline

Chr5:1278782

Conflicting classifications of pathogenicity

Melanoma, cutaneous malignant, susceptibility to, 9
Dyskeratosis congenita
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Conflicting Classifications

rs_769467251

4 SubmittersRCV002290572 RCV002258103 RCV002552631

NM_198253.3(TERT):c.2015G>A (p.Arg672His)

SNV
Germline

Chr5:1279406

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Conflicting Classifications

rs_1353891039

2 SubmittersRCV002553072 RCV003473622

NM_198253.3(TERT):c.1743G>A (p.Trp581Ter)

SNV
Germline

Chr5:1282455

Pathogenic

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Single Submitter

rs_1750086002

1 SubmittersRCV003103904

NM_198253.3(TERT):c.1580G>T (p.Gly527Val)

SNV
Germline

Chr5:1282618

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_1006357203

2 SubmittersRCV002555892 RCV004559900

NM_198253.3(TERT):c.1438T>C (p.Ser480Pro)

SNV
Germline

Chr5:1293448

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_917650159

2 SubmittersRCV002553196 RCV004559863

NM_198253.3(TERT):c.1434G>A (p.Trp478Ter)

SNV
Germline

Chr5:1293452

Pathogenic

Dyskeratosis congenita, autosomal dominant 2
Interstitial lung disease 2

Criteria Provided
Single Submitter

rs_1751122711

1 SubmittersRCV001045523

NM_198253.3(TERT):c.1339C>T (p.Arg447Cys)

SNV
Germline

Chr5:1293547

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Conflicting Classifications

rs_1304418053

2 SubmittersRCV002552511 RCV003467728

NM_198253.3(TERT):c.976G>A (p.Ala326Thr)

SNV
Germline

Chr5:1293910

Conflicting classifications of pathogenicity

Condition: not provided
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_1030156757

3 SubmittersRCV002298867 RCV002555899 RCV004559901

NM_198253.3(TERT):c.820T>A (p.Ser274Thr)

SNV
Germline

Chr5:1294066

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_1751200603

2 SubmittersRCV002553844 RCV004559882

NM_198253.3(TERT):c.776C>T (p.Pro259Leu)

SNV
Germline

Chr5:1294110

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_775613951

2 SubmittersRCV002553335 RCV004559875

NM_001099274.3(TINF2):c.318G>C (p.Lys106Asn)

SNV
Germline

Chr14:24241756

Conflicting classifications of pathogenicity

Dyskeratosis congenita
Dyskeratosis congenita, autosomal dominant 3
Revesz syndrome

Criteria Provided
Conflicting Classifications

rs_765992492

2 SubmittersRCV001050305 RCV001109634 RCV001109635

NM_002582.4(PARN):c.657G>A (p.Trp219Ter)

SNV
Germline

Chr16:14608283

Pathogenic

Dyskeratosis congenita, autosomal recessive 6
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4

Criteria Provided
Single Submitter

rs_1363931577

1 SubmittersRCV001063256

NM_001082486.2(ACD):c.1148G>A (p.Arg383Gln)

SNV
Germline

Chr16:67658044

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 6
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_200293827

2 SubmittersRCV001039741 RCV002391112

NM_025099.6(CTC1):c.2973T>G (p.Tyr991Ter)

SNV
Germline

Chr17:8229929

Pathogenic

Dyskeratosis congenita

Criteria Provided
Single Submitter

rs_62637613

1 SubmittersRCV001047461

NM_025099.6(CTC1):c.2960G>A (p.Arg987Gln)

SNV
Germline

Chr17:8229942

Likely pathogenic

Dyskeratosis congenita

Criteria Provided
Single Submitter

rs_769617113

1 SubmittersRCV001042422

NM_025099.6(CTC1):c.2737G>A (p.Ala913Thr)

SNV
Germline

Chr17:8230584

Conflicting classifications of pathogenicity

Dyskeratosis congenita
Inborn genetic diseases
CTC1-related disorder

Criteria Provided
Conflicting Classifications

rs_201203345

3 SubmittersRCV001059642 RCV002553867 RCV003963021

NM_025099.6(CTC1):c.2029A>G (p.Met677Val)

SNV
Germline

Chr17:8232392

Conflicting classifications of pathogenicity

Dyskeratosis congenita
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1987321255

2 SubmittersRCV001069650 RCV003372980

NM_025099.6(CTC1):c.1333C>T (p.Arg445Cys)

SNV
Germline

Chr17:8235159

Conflicting classifications of pathogenicity

Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_201273283

2 SubmittersRCV001060950

NM_025099.6(CTC1):c.322C>T (p.Arg108Ter)

SNV
Germline

Chr17:8238505

Pathogenic

Dyskeratosis congenita

Criteria Provided
Single Submitter

rs_372031509

1 SubmittersRCV001044694

NM_001283009.2(RTEL1):c.361C>T (p.Gln121Ter)

SNV
Germline

Chr20:63661909

Pathogenic

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita, autosomal recessive 5

Criteria Provided
Single Submitter

rs_2090027846

1 SubmittersRCV001049521

NM_001283009.2(RTEL1):c.1606G>T (p.Glu536Ter)

SNV
Germline

Chr20:63688149

Pathogenic

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita, autosomal recessive 5

Criteria Provided
Single Submitter

rs_2090639016

1 SubmittersRCV001037577

NM_198253.3(TERT):c.2382+1G>C

SNV
Germline

Chr5:1272184

Likely pathogenic

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Single Submitter

rs_1749089374

1 SubmittersRCV002552073

NM_001099274.3(TINF2):c.507+6G>A

SNV
Germline

Chr14:24241198

Conflicting classifications of pathogenicity

Dyskeratosis congenita
not specified
TINF2-related disorder

Criteria Provided
Conflicting Classifications

rs_142144996

3 SubmittersRCV001050306 RCV001819767 RCV003963010

NM_198253.3(TERT):c.2639C>T (p.Ala880Val)

SNV
Germline

Chr5:1266479

Conflicting classifications of pathogenicity

Condition: not provided
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Conflicting Classifications

rs_1748613384

3 SubmittersRCV001093474 RCV002554874

NM_001099274.3(TINF2):c.253C>G (p.His85Asp)

SNV
Germline

Chr14:24241934

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 3
Revesz syndrome
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_758462532

2 SubmittersRCV001109637 RCV001109636 RCV002555068

NM_001099274.3(TINF2):c.30A>G (p.Ala10=)

SNV
Germline

Chr14:24242303

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 3
Revesz syndrome
Dyskeratosis congenita
not specified

Criteria Provided
Conflicting Classifications

rs_779819186

3 SubmittersRCV001111934 RCV001111935 RCV001450600 RCV001819823

NM_001143992.2(WRAP53):c.330C>T (p.Asn110=)

SNV
Germline

Chr17:7688978

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal recessive 3
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_150180394

2 SubmittersRCV001127390 RCV002070083

NM_025099.6(CTC1):c.2472C>T (p.Pro824=)

SNV
Germline

Chr17:8231729

Conflicting classifications of pathogenicity

Dyskeratosis congenita
not specified

Criteria Provided
Conflicting Classifications

rs_558802130

3 SubmittersRCV001126289 RCV001819834

NM_025099.6(CTC1):c.2253A>G (p.Gly751=)

SNV
Germline

Chr17:8232035

Conflicting classifications of pathogenicity

Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_1164794062

2 SubmittersRCV001128342

NM_001143992.2(WRAP53):c.432-15C>G

SNV
Germline

Chr17:7689209

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal recessive 3
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_771063284

2 SubmittersRCV001123318 RCV003117770

NM_001143992.2(WRAP53):c.643-4A>G

SNV
Germline

Chr17:7700737

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal recessive 3
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_770005848

2 SubmittersRCV001123319 RCV003736989

NM_025099.6(CTC1):c.2060+12G>A

SNV
Germline

Chr17:8232349

Conflicting classifications of pathogenicity

Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_1987317835

2 SubmittersRCV001122622

NM_198253.3(TERT):c.1401C>T (p.Ala467=)

SNV
Germline

Chr5:1293485

Conflicting classifications of pathogenicity

Aplastic anemia
Dyskeratosis congenita, autosomal dominant 2
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_1751126189

3 SubmittersRCV001154650 RCV001154652 RCV001154651 RCV002557323 RCV004559907

NM_198253.3(TERT):c.696G>T (p.Leu232=)

SNV
Germline

Chr5:1294190

Conflicting classifications of pathogenicity

Aplastic anemia
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Conflicting Classifications

rs_1033402019

2 SubmittersRCV001155588 RCV001155589 RCV001155587 RCV002559498

NM_198253.3(TERT):c.483G>C (p.Leu161=)

SNV
Germline

Chr5:1294403

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Aplastic anemia
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Conflicting Classifications

rs_755155708

2 SubmittersRCV001153058 RCV001151814 RCV001151815 RCV002557276

NM_001363.5(DKC1):c.1195G>C (p.Asp399His)

SNV
Germline

ChrX:154774641

Likely pathogenic

Dyskeratosis congenita, X-linked

Criteria Provided
Single Submitter

rs_2071871731

1 SubmittersRCV001172399

NM_198253.3(TERT):c.230T>C (p.Leu77Pro)

SNV
Germline

Chr5:1294656

Conflicting classifications of pathogenicity

Abnormal pulmonary interstitial morphology
Condition: not provided
Pulmonary fibrosis
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Conflicting Classifications

rs_1751271544

4 SubmittersRCV001172441 RCV001819874 RCV002509620 RCV003104009

NM_198253.3(TERT):c.2812C>T (p.Arg938Trp)

SNV
Germline

Chr5:1264435

Likely pathogenic

Abnormal pulmonary interstitial morphology
Macrocytic anemia
Premature graying of hair
Short telomere length
Condition: not provided
Pulmonary fibrosis
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Multiple Submitters
No Conflicts

rs_1422814635

5 SubmittersRCV001172444 RCV001819875 RCV002509621 RCV002559651 RCV004559909

NM_198253.3(TERT):c.1891C>T (p.Arg631Trp)

SNV
Germline

Chr5:1280217

Pathogenic/Likely pathogenic

Acute myeloid leukemia
Condition: not provided
Pulmonary fibrosis
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Multiple Submitters
No Conflicts

rs_1194223999

5 SubmittersRCV001172450 RCV001819876 RCV002509622 RCV002558734 RCV004559910

NM_001363.5(DKC1):c.133G>A (p.Ala45Thr)

SNV
Unknown

ChrX:154765492

Likely pathogenic

Dyskeratosis congenita, X-linked

Criteria Provided
Single Submitter

rs_2071733846

1 SubmittersRCV001195949

NM_198253.3(TERT):c.2638G>A (p.Ala880Thr)

SNV
Germline

Chr5:1266480

Pathogenic/Likely pathogenic

Condition: not provided
Dyskeratosis congenita, autosomal dominant 2
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Multiple Submitters
No Conflicts

rs_1748613571

4 SubmittersRCV001819918 RCV003150823 RCV003150824 RCV003770256

NM_025099.6(CTC1):c.2174C>G (p.Pro725Arg)

SNV
Germline

Chr17:8232114

Conflicting classifications of pathogenicity

Dyskeratosis congenita
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_371046424

2 SubmittersRCV001220129 RCV002562498

NM_198253.3(TERT):c.3211C>T (p.Gln1071Ter)

SNV
Germline

Chr5:1254452

Pathogenic

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Single Submitter

rs_1747568641

1 SubmittersRCV002561656

NM_198253.3(TERT):c.3001A>G (p.Ile1001Val)

SNV
Germline

Chr5:1258629

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_1747930001

2 SubmittersRCV002561098 RCV004559922

NM_198253.3(TERT):c.1824G>T (p.Gln608His)

SNV
Germline

Chr5:1280284

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_769540249

2 SubmittersRCV003103930 RCV003324819

NM_198253.3(TERT):c.1292C>T (p.Pro431Leu)

SNV
Germline

Chr5:1293594

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_1164823749

2 SubmittersRCV002561184 RCV004559926

NM_001099274.3(TINF2):c.793C>T (p.Arg265Ter)

SNV
Germline

Chr14:24240687

Conflicting classifications of pathogenicity

Dyskeratosis congenita
Condition: not provided
TINF2-related disorder
Long telomere syndrome

Criteria Provided
Conflicting Classifications

rs_200320654

5 SubmittersRCV001212678 RCV001780129 RCV003405398 RCV004561955

NM_002582.4(PARN):c.709C>T (p.Arg237Ter)

SNV
Germline

Chr16:14604220

Pathogenic

Dyskeratosis congenita, autosomal recessive 6
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_760506977

3 SubmittersRCV001201968 RCV001252646 RCV001819891

NM_025099.6(CTC1):c.19C>T (p.Gln7Ter)

SNV
Germline

Chr17:8248018

Pathogenic

Dyskeratosis congenita
Cerebroretinal microangiopathy with calcifications and cysts 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_374877315

4 SubmittersRCV001213645 RCV002249804

NM_001283009.2(RTEL1):c.475C>T (p.Gln159Ter)

SNV
Germline

Chr20:63662625

Pathogenic

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita, autosomal recessive 5

Criteria Provided
Single Submitter

rs_2090043175

1 SubmittersRCV001207263

NM_001283009.2(RTEL1):c.2461G>T (p.Glu821Ter)

SNV
Germline

Chr20:63690852

Pathogenic

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita, autosomal recessive 5

Criteria Provided
Single Submitter

rs_2090722556

1 SubmittersRCV001206922

NM_001283009.2(RTEL1):c.2485C>T (p.Gln829Ter)

SNV
Germline

Chr20:63690876

Pathogenic

Dyskeratosis congenita, autosomal recessive 5
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3

Criteria Provided
Single Submitter

rs_1278121916

1 SubmittersRCV001203817

NM_001283009.2(RTEL1):c.2725C>T (p.Gln909Ter)

SNV
Germline

Chr20:63692877

Pathogenic/Likely pathogenic

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita, autosomal recessive 5
Dyskeratosis congenita, autosomal recessive 5

Criteria Provided
Multiple Submitters
No Conflicts

rs_866637461

2 SubmittersRCV001210779 RCV003469349

NM_001363.5(DKC1):c.191T>G (p.Val64Gly)

SNV
Germline

ChrX:154765926

Conflicting classifications of pathogenicity

Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_2071739379

2 SubmittersRCV001209989

NM_198253.3(TERT):c.2382+3C>A

SNV
Germline

Chr5:1272182

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
TERT-related disorder

Criteria Provided
Conflicting Classifications

rs_1579564797

2 SubmittersRCV002562338 RCV004545125

NM_025099.6(CTC1):c.2386-1G>A

SNV
Germline

Chr17:8231816

Likely pathogenic

Dyskeratosis congenita
Cerebroretinal microangiopathy with calcifications and cysts 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_199861310

4 SubmittersRCV001203903 RCV001809993

NM_001283009.2(RTEL1):c.539-6C>A

SNV
Germline

Chr20:63665998

Conflicting classifications of pathogenicity

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita, autosomal recessive 5
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_778544732

3 SubmittersRCV001206466 RCV001833812

NM_198253.3(TERT):c.1574-1G>A

SNV
Germline

Chr5:1282625

Likely pathogenic

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Single Submitter

rs_1750106866

1 SubmittersRCV002563064

NM_002582.4(PARN):c.1670+1G>T

SNV
Germline

Chr16:14482637

Likely pathogenic

Dyskeratosis congenita, autosomal recessive 6
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4

Criteria Provided
Single Submitter

rs_1963445391

1 SubmittersRCV001216287

NM_198253.3(TERT):c.2637C>G (p.His879Gln)

SNV
Germline

Chr5:1266481

Conflicting classifications of pathogenicity

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_1307380469

2 SubmittersRCV002563161 RCV004557461

NM_198253.3(TERT):c.2576G>A (p.Arg859Gln)

SNV
Germline

Chr5:1268526

Conflicting classifications of pathogenicity

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_755183437

2 SubmittersRCV002563844 RCV004557474

NM_198253.3(TERT):c.1043G>A (p.Ser348Asn)

SNV
Germline

Chr5:1293843

Conflicting classifications of pathogenicity

Dyskeratosis congenita
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Conflicting Classifications

rs_1279397908

3 SubmittersRCV002256713 RCV002563174

NM_198253.3(TERT):c.802C>T (p.Arg268Cys)

SNV
Germline

Chr5:1294084

Conflicting classifications of pathogenicity

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_749827230

2 SubmittersRCV002563792 RCV004557465

NM_198253.3(TERT):c.686G>A (p.Ser229Asn)

SNV
Germline

Chr5:1294200

Conflicting classifications of pathogenicity

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_1751217170

2 SubmittersRCV002563843 RCV004557472

NM_198253.3(TERT):c.162C>A (p.Cys54Ter)

SNV
Germline

Chr5:1294828

Pathogenic

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Single Submitter

rs_1751289309

1 SubmittersRCV002563175

NM_001082486.2(ACD):c.-29C>G

SNV
Germline

Chr16:67660249

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 6
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

rs_534010648

3 SubmittersRCV001227102 RCV002447142 RCV003321811

NM_025099.6(CTC1):c.2126C>G (p.Ser709Ter)

SNV
Germline

Chr17:8232162

Pathogenic

Dyskeratosis congenita

Criteria Provided
Single Submitter

rs_1201426650

1 SubmittersRCV001233953

NM_001283009.2(RTEL1):c.2038C>T (p.Gln680Ter)

SNV
Germline

Chr20:63689762

Pathogenic

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita, autosomal recessive 5

Criteria Provided
Single Submitter

rs_2090682958

1 SubmittersRCV001229984

NM_001283009.2(RTEL1):c.2089C>T (p.Arg697Ter)

SNV
Germline

Chr20:63689813

Pathogenic/Likely pathogenic

Dyskeratosis congenita, autosomal recessive 5
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita, autosomal recessive 5

Criteria Provided
Multiple Submitters
No Conflicts

rs_768188490

2 SubmittersRCV001233061 RCV003469423

NM_001283009.2(RTEL1):c.3169C>T (p.Gln1057Ter)

SNV
Germline

Chr20:63694800

Pathogenic/Likely pathogenic

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita, autosomal recessive 5
Condition: not provided
Dyskeratosis congenita, autosomal recessive 5

Criteria Provided
Multiple Submitters
No Conflicts

rs_2090929102

3 SubmittersRCV001230569 RCV003153953 RCV003469409

NM_198253.3(TERT):c.1334C>G (p.Pro445Arg)

SNV
Germline

Chr5:1293552

Conflicting classifications of pathogenicity

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
TERT-related disorder
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_956854933

3 SubmittersRCV002564118 RCV004545150 RCV004557488

NM_198253.3(TERT):c.777G>A (p.Pro259=)

SNV
Germline

Chr5:1294109

Conflicting classifications of pathogenicity

Dyskeratosis congenita
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Conflicting Classifications

rs_746036694

3 SubmittersRCV002256723 RCV002568661

NM_025099.6(CTC1):c.2522G>A (p.Arg841His)

SNV
Germline

Chr17:8231423

Conflicting classifications of pathogenicity

Dyskeratosis congenita
Condition: not provided
Cerebroretinal microangiopathy with calcifications and cysts 1
not specified

Criteria Provided
Conflicting Classifications

rs_780358670

4 SubmittersRCV001241949 RCV001558827 RCV001807394 RCV001819943

NM_001283009.2(RTEL1):c.2965C>T (p.Arg989Trp)

SNV
Germline

Chr20:63693256

Conflicting classifications of pathogenicity

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita, autosomal recessive 5
Condition: not provided
Dyskeratosis congenita, autosomal recessive 5
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_139221232

6 SubmittersRCV001242762 RCV001732088 RCV001267792 RCV001835138

NM_001283009.2(RTEL1):c.2990C>G (p.Thr997Ser)

SNV
Germline

Chr20:63693281

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal recessive 5
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1046295138

3 SubmittersRCV001243173 RCV001829015 RCV002564055

NM_001283009.2(RTEL1):c.2999C>T (p.Thr1000Met)

SNV
Germline

Chr20:63694378

Conflicting classifications of pathogenicity

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita, autosomal recessive 5
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_201560152

4 SubmittersRCV001242903 RCV001751484 RCV002447205

NM_001283009.2(RTEL1):c.3203G>A (p.Arg1068His)

SNV
Germline

Chr20:63694834

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal recessive 5
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita
Condition: not provided
RTEL1-related disorder

Criteria Provided
Conflicting Classifications

rs_137914057

5 SubmittersRCV001244547 RCV001835205 RCV002259387 RCV004538512

NM_001283009.2(RTEL1):c.3783C>G (p.Asp1261Glu)

SNV
Germline

Chr20:63695611

Conflicting classifications of pathogenicity

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita, autosomal recessive 5
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_376313219

2 SubmittersRCV001245936 RCV003433090

NM_001283009.2(RTEL1):c.1191+1G>C

SNV
Germline

Chr20:63680720

Likely pathogenic

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita, autosomal recessive 5
Dyskeratosis congenita

Criteria Provided
Single Submitter

rs_2090461817

2 SubmittersRCV001230155 RCV001833989

NM_002582.4(PARN):c.448C>T (p.Arg150Cys)

SNV
Germline

Chr16:14610750

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal recessive 6
Dyskeratosis congenita, autosomal recessive 6
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_777558836

3 SubmittersRCV001249632 RCV001879757 RCV002568697

NM_198253.3(TERT):c.2419G>A (p.Asp807Asn)

SNV
Germline

Chr5:1271168

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Conflicting Classifications

rs_1169312254

3 SubmittersRCV001267800 RCV003229617 RCV002568705

NM_198253.3(TERT):c.1285G>T (p.Glu429Ter)

SNV
Germline

Chr5:1293601

Pathogenic

Dyskeratosis congenita, autosomal dominant 2

No Assertion Criteria Provided

rs_1561213553

1 SubmittersRCV001267801

NM_002582.4(PARN):c.1067A>G (p.Asn356Ser)

SNV
Germline

Chr16:14584361

Conflicting classifications of pathogenicity

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
Dyskeratosis congenita, autosomal recessive 6
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_757655633

3 SubmittersRCV001260999 RCV001880000 RCV003263914

NR_001566.2(TERC):n.95G>C

SNV
Germline

Chr3:169764966

Conflicting classifications of pathogenicity

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2
Dyskeratosis congenita, autosomal dominant 1
Telomere syndrome

Criteria Provided
Conflicting Classifications

rs_1777963668

3 SubmittersRCV001263470 RCV001880061 RCV003325411

NM_198253.3(TERT):c.2593C>T (p.Arg865Cys)

SNV
Germline

Chr5:1266525

Conflicting classifications of pathogenicity

Condition: not provided
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_372868296

3 SubmittersRCV001268086 RCV002541635 RCV004557498

NM_025099.6(CTC1):c.670C>T (p.Arg224Ter)

SNV
Germline

Chr17:8237497

Pathogenic

Dyskeratosis congenita
CTC1-related disorder
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1169567839

3 SubmittersRCV001880169 RCV003898254 RCV001268612

NM_001283009.2(RTEL1):c.2308G>A (p.Gly770Arg)

SNV
Germline

Chr20:63690336

Conflicting classifications of pathogenicity

Dyskeratosis congenita
Dyskeratosis congenita, autosomal recessive 5
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_537754916

5 SubmittersRCV001279963 RCV002542938 RCV004035497

NM_198253.3(TERT):c.2764A>T (p.Met922Leu)

SNV
Germline

Chr5:1264483

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_554229004

2 SubmittersRCV002539471 RCV004557519

NM_198253.3(TERT):c.2130+4G>T

SNV
Germline

Chr5:1279287

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
TERT-related disorder

Criteria Provided
Conflicting Classifications

rs_762332544

2 SubmittersRCV002543198 RCV004531089

NM_198253.3(TERT):c.965C>T (p.Pro322Leu)

SNV
Germline

Chr5:1293921

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_1438162956

2 SubmittersRCV002543194 RCV004557524

NM_001363.5(DKC1):c.1471G>A (p.Asp491Asn)

SNV
Germline

ChrX:154776319

Conflicting classifications of pathogenicity

Dyskeratosis congenita
DKC1-related disorder

Criteria Provided
Conflicting Classifications

rs_782598355

3 SubmittersRCV001308200 RCV004034159

NM_198253.3(TERT):c.2912G>A (p.Arg971His)

SNV
Germline

Chr5:1260532

Conflicting classifications of pathogenicity

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Pulmonary fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Conflicting Classifications

rs_1748153358

3 SubmittersRCV002327692 RCV002543591 RCV002509657 RCV003447587

NM_198253.3(TERT):c.1483A>C (p.Ile495Leu)

SNV
Germline

Chr5:1293403

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_1561213308

2 SubmittersRCV002543728 RCV004557533

NM_001283009.2(RTEL1):c.2483G>A (p.Arg828Gln)

SNV
Germline

Chr20:63690874

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal recessive 5
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_774640608

3 SubmittersRCV001325719 RCV001830375 RCV004035176

NM_001283009.2(RTEL1):c.2840A>G (p.Asn947Ser)

SNV
Germline

Chr20:63692992

Conflicting classifications of pathogenicity

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita, autosomal recessive 5
Dyskeratosis congenita
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_761268803

3 SubmittersRCV001327028 RCV001831026 RCV002438753

NM_001363.5(DKC1):c.41A>G (p.Lys14Arg)

SNV
Germline

ChrX:154764923

Conflicting classifications of pathogenicity

Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_376632263

2 SubmittersRCV001313757

NM_001363.5(DKC1):c.84C>T (p.Ala28=)

SNV
Germline

ChrX:154764966

Conflicting classifications of pathogenicity

Dyskeratosis congenita
Condition: not provided
DKC1-related disorder

Criteria Provided
Conflicting Classifications

rs_142474971

3 SubmittersRCV001326733 RCV003438741 RCV004035214

NM_198253.3(TERT):c.2286+1G>A

SNV
Germline

Chr5:1278640

Likely pathogenic

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Multiple Submitters
No Conflicts

rs_1749780301

2 SubmittersRCV002675447 RCV004558797

NM_198253.3(TERT):c.1364A>T (p.His455Leu)

SNV
Germline

Chr5:1293522

Conflicting classifications of pathogenicity

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Conflicting Classifications

rs_781329984

2 SubmittersRCV002329318 RCV002546931

NM_001082486.2(ACD):c.799G>T (p.Ala267Ser)

SNV
Germline

Chr16:67658585

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 6
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_775607009

2 SubmittersRCV001342307 RCV002404800

NM_001082486.2(ACD):c.18G>T (p.Arg6Ser)

SNV
Germline

Chr16:67660203

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 6
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_779383442

2 SubmittersRCV001339731 RCV002438772

NM_001082486.2(ACD):c.1168G>A (p.Gly390Arg)

SNV
Germline

Chr16:67658024

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Dyskeratosis congenita, autosomal dominant 6

Criteria Provided
Conflicting Classifications

rs_553014261

3 SubmittersRCV001355293 RCV002395786 RCV003591862

NM_198253.3(TERT):c.1852A>G (p.Thr618Ala)

SNV
Germline

Chr5:1280256

Conflicting classifications of pathogenicity

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_995777798

2 SubmittersRCV002550144 RCV004557574

NM_001082486.2(ACD):c.1147C>T (p.Arg383Trp)

SNV
Germline

Chr16:67658045

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 6
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_747913250

2 SubmittersRCV001365972 RCV002395827

NM_001082486.2(ACD):c.527G>A (p.Arg176Gln)

SNV
Germline

Chr16:67659046

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 6
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_145007645

2 SubmittersRCV001360982 RCV002413853

NM_198253.3(TERT):c.3026C>T (p.Ala1009Val)

SNV
Germline

Chr5:1258604

Likely pathogenic

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Multiple Submitters
No Conflicts

rs_866575708

2 SubmittersRCV001376142 RCV002550227

NM_198253.3(TERT):c.2970+2T>G

SNV
Germline

Chr5:1260472

Likely pathogenic

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Single Submitter

rs_2126584187

1 SubmittersRCV002550253

NM_025099.6(CTC1):c.2385+2T>C

SNV
Germline

Chr17:8231901

Conflicting classifications of pathogenicity

Dyskeratosis congenita
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1597378045

3 SubmittersRCV001378877 RCV002469385 RCV002550255

NM_025099.6(CTC1):c.1A>C (p.Met1Leu)

SNV
Germline

Chr17:8248036

Pathogenic/Likely pathogenic

Dyskeratosis congenita
Cerebroretinal microangiopathy with calcifications and cysts 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_779499831

2 SubmittersRCV001378112 RCV001780284

NM_001283009.2(RTEL1):c.1191+1G>A

SNV
Germline

Chr20:63680720

Likely pathogenic

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita, autosomal recessive 5

Criteria Provided
Single Submitter

rs_2090461817

1 SubmittersRCV001377598

NM_001283009.2(RTEL1):c.1266+2T>G

SNV
Germline

Chr20:63685599

Likely pathogenic

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita, autosomal recessive 5

Criteria Provided
Single Submitter

rs_1444392809

1 SubmittersRCV001378074

NM_001283009.2(RTEL1):c.2265+1G>T

SNV
Germline

Chr20:63690211

Likely pathogenic

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita, autosomal recessive 5
Dyskeratosis congenita
Dyskeratosis congenita, autosomal recessive 5

Criteria Provided
Multiple Submitters
No Conflicts

rs_2145431062

3 SubmittersRCV001378379 RCV001831354 RCV003469633

NM_001283009.2(RTEL1):c.3343+1G>C

SNV
Germline

Chr20:63694975

Likely pathogenic

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita, autosomal recessive 5

Criteria Provided
Single Submitter

rs_2145476311

1 SubmittersRCV001377696

NM_025099.6(CTC1):c.1753C>T (p.Gln585Ter)

SNV
Germline

Chr17:8234520

Pathogenic

Dyskeratosis congenita
Cerebroretinal microangiopathy with calcifications and cysts 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_952398755

3 SubmittersRCV001385981 RCV001780351 RCV003426066

NM_025099.6(CTC1):c.458G>A (p.Trp153Ter)

SNV
Germline

Chr17:8238220

Pathogenic

Dyskeratosis congenita

Criteria Provided
Single Submitter

rs_2151530716

1 SubmittersRCV001385655

NM_001283009.2(RTEL1):c.1603G>T (p.Glu535Ter)

SNV
Germline

Chr20:63688146

Pathogenic

Dyskeratosis congenita, autosomal recessive 5
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3

Criteria Provided
Single Submitter

rs_1367858373

1 SubmittersRCV001381426

NM_001283009.2(RTEL1):c.2554C>T (p.Gln852Ter)

SNV
Germline

Chr20:63690945

Pathogenic

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita, autosomal recessive 5
Dyskeratosis congenita, autosomal recessive 5

Criteria Provided
Multiple Submitters
No Conflicts

rs_2145434954

2 SubmittersRCV001390674 RCV003469778

NM_001283009.2(RTEL1):c.2653G>T (p.Glu885Ter)

SNV
Germline

Chr20:63692805

Pathogenic

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita, autosomal recessive 5

Criteria Provided
Single Submitter

rs_2090784564

1 SubmittersRCV001384321

NM_001283009.2(RTEL1):c.3043C>T (p.Gln1015Ter)

SNV
Germline

Chr20:63694422

Pathogenic

Dyskeratosis congenita, autosomal recessive 5
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3

Criteria Provided
Single Submitter

rs_777109448

1 SubmittersRCV001382485

NM_001283009.2(RTEL1):c.3766C>T (p.Gln1256Ter)

SNV
Germline

Chr20:63695594

Pathogenic

Dyskeratosis congenita, autosomal recessive 5
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3

Criteria Provided
Single Submitter

rs_1385101139

1 SubmittersRCV001384501

NM_198253.3(TERT):c.1719C>G (p.Leu573=)

SNV
Germline

Chr5:1282479

Conflicting classifications of pathogenicity

not specified
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_978808687

3 SubmittersRCV001820094 RCV002552678 RCV004557592

NM_198253.3(TERT):c.1380G>A (p.Gln460=)

SNV
Germline

Chr5:1293506

Conflicting classifications of pathogenicity

not specified
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_754992012

3 SubmittersRCV001820097 RCV002552699 RCV004557595

NM_198253.3(TERT):c.696G>A (p.Leu232=)

SNV
Germline

Chr5:1294190

Conflicting classifications of pathogenicity

not specified
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_1033402019

3 SubmittersRCV001820107 RCV002554015 RCV004557610

NM_025099.6(CTC1):c.648-9C>T

SNV
Germline

Chr17:8237528

Conflicting classifications of pathogenicity

Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_779778738

2 SubmittersRCV001398782

NM_001283009.2(RTEL1):c.3343+8G>C

SNV
Germline

Chr20:63694982

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal recessive 5
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1-related disorder

Criteria Provided
Conflicting Classifications

rs_768036242

2 SubmittersRCV001402543 RCV004531226

NM_198253.3(TERT):c.688C>A (p.Arg230=)

SNV
Germline

Chr5:1294198

Conflicting classifications of pathogenicity

not specified
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_989271195

3 SubmittersRCV001820127 RCV002555537 RCV004557643

NM_198253.3(TERT):c.456G>C (p.Leu152=)

SNV
Germline

Chr5:1294430

Conflicting classifications of pathogenicity

Dyskeratosis congenita
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Conflicting Classifications

rs_757121533

3 SubmittersRCV002256771 RCV002555511

NM_001283009.2(RTEL1):c.333C>T (p.Tyr111=)

SNV
Germline

Chr20:63661881

Conflicting classifications of pathogenicity

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita, autosomal recessive 5
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_749496657

2 SubmittersRCV001425787 RCV003229055

NM_001283009.2(RTEL1):c.869C>T (p.Ala290Val)

SNV
Germline

Chr20:63674043

Conflicting classifications of pathogenicity

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita, autosomal recessive 5
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_202157063

2 SubmittersRCV001441796 RCV002256779

NM_001283009.2(RTEL1):c.2911C>T (p.Leu971=)

SNV
Germline

Chr20:63693202

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal recessive 5
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_2090805113

2 SubmittersRCV001433829 RCV003235574

NM_198253.3(TERT):c.3048G>A (p.Val1016=)

SNV
Germline

Chr5:1255396

Conflicting classifications of pathogenicity

not specified
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_1454370746

3 SubmittersRCV001820156 RCV002560370 RCV004557678

NM_001283009.2(RTEL1):c.273C>T (p.Asn91=)

SNV
Germline

Chr20:63661468

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal recessive 5
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_779793496

3 SubmittersRCV001464682 RCV001820158 RCV003298808

NM_001283009.2(RTEL1):c.2169A>G (p.Gln723=)

SNV
Germline

Chr20:63690114

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal recessive 5
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_1224602711

2 SubmittersRCV001501914 RCV002256809

NM_001283009.2(RTEL1):c.2869C>A (p.Arg957=)

SNV
Germline

Chr20:63693160

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal recessive 5
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_398123018

3 SubmittersRCV001479591 RCV002256790 RCV002439145

NM_198253.3(TERT):c.421C>G (p.Leu141Val)

SNV
Germline

Chr5:1294465

Conflicting classifications of pathogenicity

Condition: not provided
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_775225240

2 SubmittersRCV001577737 RCV004558631

NM_198253.3(TERT):c.-124C>T

SNV
Germline/somatic

Chr5:1295113

Likely pathogenic

Melanoma, cutaneous malignant, susceptibility to, 1
Condition: not provided
not specified
Malignant tumor of urinary bladder
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Multiple Submitters
No Conflicts

rs_1242535815

5 SubmittersRCV001728078 RCV002073409 RCV002223145 RCV003332346 RCV003470881

NM_198253.3(TERT):c.2131-16G>A

SNV
Germline

Chr5:1278812

Conflicting classifications of pathogenicity

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_146768484

2 SubmittersRCV002540730 RCV003237483

NM_025099.6(CTC1):c.150G>A (p.Trp50Ter)

SNV
Germline

Chr17:8243032

Pathogenic/Likely pathogenic

Dyskeratosis congenita
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

rs_202213253

2 SubmittersRCV001868831 RCV002541116

NM_025099.6(CTC1):c.2581G>T (p.Glu861Ter)

SNV
Germline

Chr17:8231364

Pathogenic

Cerebroretinal microangiopathy with calcifications and cysts 1
Dyskeratosis congenita

Criteria Provided
Multiple Submitters
No Conflicts

rs_1987206904

2 SubmittersRCV001780589 RCV001868832

NM_025099.6(CTC1):c.2T>A (p.Met1Lys)

SNV
Germline

Chr17:8248035

Pathogenic/Likely pathogenic

Cerebroretinal microangiopathy with calcifications and cysts 1
Dyskeratosis congenita

Criteria Provided
Multiple Submitters
No Conflicts

rs_1299853886

2 SubmittersRCV001780890 RCV002541187

NM_025099.6(CTC1):c.1818+1G>A

SNV
Germline

Chr17:8234454

Likely pathogenic

Cerebroretinal microangiopathy with calcifications and cysts 1
Dyskeratosis congenita

Criteria Provided
Multiple Submitters
No Conflicts

rs_773716148

2 SubmittersRCV001780891 RCV003530208

NM_001283009.2(RTEL1):c.2821G>T (p.Glu941Ter)

SNV
Germline

Chr20:63692973

Pathogenic/Likely pathogenic

Condition: not provided
Dyskeratosis congenita, autosomal recessive 5
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita, autosomal recessive 5

Criteria Provided
Multiple Submitters
No Conflicts

rs_906116592

4 SubmittersRCV001783696 RCV002541211 RCV003470915

NM_198253.3(TERT):c.329G>C (p.Gly110Ala)

SNV
Germline

Chr5:1294557

Conflicting classifications of pathogenicity

Condition: not provided
Pulmonary fibrosis
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Conflicting Classifications

rs_1751262771

3 SubmittersRCV001806957 RCV002509702 RCV002542371

NM_198253.3(TERT):c.2844-12C>A

SNV
Germline

Chr5:1260612

Conflicting classifications of pathogenicity

not specified
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Conflicting Classifications

rs_199765802

2 SubmittersRCV001817430 RCV002542532

NM_002582.4(PARN):c.1192+7A>G

SNV
Germline

Chr16:14582174

Conflicting classifications of pathogenicity

not specified
Dyskeratosis congenita, autosomal recessive 6
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4

Criteria Provided
Conflicting Classifications

rs_766337795

2 SubmittersRCV001819238 RCV002074298

NR_001566.2(TERC):n.54A>C

SNV
Germline

Chr3:169765007

Conflicting classifications of pathogenicity

Condition: not provided
Dyskeratosis congenita, autosomal dominant 1

Criteria Provided
Conflicting Classifications

rs_1288561509

2 SubmittersRCV001819307 RCV003614089

NM_002582.4(PARN):c.178-10C>T

SNV
Germline

Chr16:14627346

Conflicting classifications of pathogenicity

not specified
Dyskeratosis congenita, autosomal recessive 6
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4

Criteria Provided
Conflicting Classifications

rs_1328915368

2 SubmittersRCV001819330 RCV001869684

NM_002582.4(PARN):c.327+10A>G

SNV
Germline

Chr16:14627096

Conflicting classifications of pathogenicity

not specified
Dyskeratosis congenita, autosomal recessive 6
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4

Criteria Provided
Conflicting Classifications

rs_773687682

2 SubmittersRCV001819652 RCV001869707

NM_025099.6(CTC1):c.485G>A (p.Arg162His)

SNV
Germline

Chr17:8238193

Conflicting classifications of pathogenicity

not specified
Dyskeratosis congenita
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_199966003

3 SubmittersRCV001820333 RCV001869713 RCV002542607

NM_025099.6(CTC1):c.2345G>C (p.Gly782Ala)

SNV
Germline

Chr17:8231943

Conflicting classifications of pathogenicity

not specified
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_530949904

2 SubmittersRCV001822740 RCV001869772

NM_198253.3(TERT):c.3157+1G>T

SNV
Germline

Chr5:1255286

Likely pathogenic

Condition: not provided
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

rs_2126562296

2 SubmittersRCV001817788 RCV003772338

NM_001283009.2(RTEL1):c.190C>T (p.Arg64Ter)

SNV
Germline

Chr20:63661385

Pathogenic/Likely pathogenic

Condition: not provided
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita, autosomal recessive 5

Criteria Provided
Multiple Submitters
No Conflicts

rs_368311594

2 SubmittersRCV001817855 RCV003772339

NM_025099.6(CTC1):c.2T>C (p.Met1Thr)

SNV
Germline

Chr17:8248035

Pathogenic

Condition: not provided
Dyskeratosis congenita

Criteria Provided
Multiple Submitters
No Conflicts

rs_1299853886

2 SubmittersRCV001837721 RCV003530211

NM_001363.5(DKC1):c.204C>G (p.His68Gln)

SNV
Germline

ChrX:154765939

Likely pathogenic

Dyskeratosis congenita, X-linked

Criteria Provided
Single Submitter

rs_199422245

1 SubmittersRCV001845042

NM_001363.5(DKC1):c.494G>C (p.Gly165Ala)

SNV
Germline

ChrX:154767042

Conflicting classifications of pathogenicity

Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_782622660

2 SubmittersRCV001944886

NM_198253.3(TERT):c.247C>T (p.Arg83Ter)

SNV
Germline

Chr5:1294639

Pathogenic

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Single Submitter

rs_867642414

1 SubmittersRCV002552829

NM_001082486.1(ACD):c.97C>T (p.Pro33Ser)

SNV
Germline

Chr16:67660382

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 6
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_776842448

2 SubmittersRCV001936711 RCV002370579

NM_025099.6(CTC1):c.1918C>T (p.Gln640Ter)

SNV
Germline

Chr17:8232933

Pathogenic

Dyskeratosis congenita

Criteria Provided
Single Submitter

rs_2151512520

1 SubmittersRCV001974940

NM_025099.6(CTC1):c.812G>A (p.Trp271Ter)

SNV
Germline

Chr17:8236323

Pathogenic

Dyskeratosis congenita

Criteria Provided
Single Submitter

rs_2151524168

1 SubmittersRCV001912692

NM_001283009.2(RTEL1):c.1192-2A>G

SNV
Germline

Chr20:63685521

Likely pathogenic

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita, autosomal recessive 5

Criteria Provided
Single Submitter

rs_2145411185

1 SubmittersRCV002046118

NM_001283009.2(RTEL1):c.3787C>T (p.Gln1263Ter)

SNV
Germline

Chr20:63695615

Pathogenic

Dyskeratosis congenita, autosomal recessive 5
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3

Criteria Provided
Single Submitter

rs_2145480992

1 SubmittersRCV001979059

NM_025099.6(CTC1):c.1617+1G>T

SNV
Germline

Chr17:8234748

Likely pathogenic

Dyskeratosis congenita

Criteria Provided
Single Submitter

rs_1201400384

1 SubmittersRCV002028488

NM_002582.4(PARN):c.382C>T (p.Arg128Ter)

SNV
Germline

Chr16:14617596

Pathogenic

Dyskeratosis congenita, autosomal recessive 6
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4

Criteria Provided
Single Submitter

rs_1318821563

1 SubmittersRCV002037633

NM_001283009.2(RTEL1):c.2239C>T (p.Gln747Ter)

SNV
Germline

Chr20:63690184

Pathogenic

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita, autosomal recessive 5

Criteria Provided
Single Submitter

rs_2145430921

1 SubmittersRCV002037651

NM_001283009.2(RTEL1):c.301+1G>A

SNV
Germline

Chr20:63661497

Likely pathogenic

Dyskeratosis congenita, autosomal recessive 5
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3

Criteria Provided
Single Submitter

rs_2146149228

1 SubmittersRCV001961306

NM_198253.3(TERT):c.2746G>A (p.Gly916Ser)

SNV
Germline

Chr5:1264501

Conflicting classifications of pathogenicity

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_1189683846

2 SubmittersRCV002548055 RCV004558679

NM_001082486.1(ACD):c.103G>A (p.Ala35Thr)

SNV
Germline

Chr16:67660376

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 6
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_772377460

2 SubmittersRCV001996231 RCV002389010

NM_001082486.2(ACD):c.1004G>A (p.Arg335His)

SNV
Germline

Chr16:67658188

Conflicting classifications of pathogenicity

not specified
Dyskeratosis congenita, autosomal dominant 6
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_774558672

3 SubmittersRCV002236188 RCV001938227 RCV002449591

NM_001283009.2(RTEL1):c.1348+1G>T

SNV
Germline

Chr20:63685873

Likely pathogenic

Dyskeratosis congenita, autosomal recessive 5
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3

Criteria Provided
Single Submitter

rs_2145412626

1 SubmittersRCV002014383

NM_001283009.2(RTEL1):c.3184G>A (p.Ala1062Thr)

SNV
Germline

Chr20:63694815

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal recessive 5
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_773397014

2 SubmittersRCV001966852 RCV003170265

NM_025099.6(CTC1):c.1306C>T (p.Arg436Cys)

SNV
Germline

Chr17:8235186

Conflicting classifications of pathogenicity

Dyskeratosis congenita
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_764414504

2 SubmittersRCV001938655 RCV002556446

NM_022836.4(DCLRE1B):c.1184G>A (p.Arg395Gln)

SNV
Germline

Chr1:113911776

Conflicting classifications of pathogenicity

Hoyeraal-Hreidarsson syndrome
Autosomal recessive dyskeratosis congenita
not specified

Criteria Provided
Conflicting Classifications

rs_146482651

2 SubmittersRCV001961964 RCV004040335

NM_198253.3(TERT):c.767G>A (p.Trp256Ter)

SNV
Germline

Chr5:1294119

Pathogenic

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Single Submitter

rs_2126687935

1 SubmittersRCV002557880

NM_002582.4(PARN):c.555-2A>G

SNV
Germline

Chr16:14609125

Likely pathogenic

Dyskeratosis congenita, autosomal recessive 6
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4

Criteria Provided
Single Submitter

rs_2151795442

1 SubmittersRCV001976115

NM_002582.4(PARN):c.841-2A>G

SNV
Germline

Chr16:14593380

Likely pathogenic

Dyskeratosis congenita, autosomal recessive 6
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4

Criteria Provided
Single Submitter

rs_2151767204

1 SubmittersRCV002022603

NM_001283009.2(RTEL1):c.1595+1G>A

SNV
Germline

Chr20:63688051

Likely pathogenic

Dyskeratosis congenita, autosomal recessive 5
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3

Criteria Provided
Single Submitter

rs_2145421181

1 SubmittersRCV002020146

NM_198253.3(TERT):c.77C>T (p.Thr26Met)

SNV
Germline

Chr5:1294913

Conflicting classifications of pathogenicity

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_760727529

2 SubmittersRCV002550983 RCV004558685

NM_198253.3(TERT):c.598G>T (p.Glu200Ter)

SNV
Germline

Chr5:1294288

Pathogenic

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Single Submitter

rs_1322987070

1 SubmittersRCV002555249

NM_002582.4(PARN):c.1624C>T (p.Gln542Ter)

SNV
Germline

Chr16:14482684

Pathogenic

Dyskeratosis congenita, autosomal recessive 6
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4

Criteria Provided
Single Submitter

rs_745696590

1 SubmittersRCV001927466

NM_001363.5(DKC1):c.55C>T (p.Arg19Trp)

SNV
Germline

ChrX:154764937

Conflicting classifications of pathogenicity

Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_782010351

2 SubmittersRCV001926468

NM_002582.4(PARN):c.1123C>T (p.Gln375Ter)

SNV
Germline

Chr16:14582250

Pathogenic

Dyskeratosis congenita, autosomal recessive 6
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4

Criteria Provided
Single Submitter

rs_1380270401

1 SubmittersRCV002007342

NM_001082486.1(ACD):c.43G>A (p.Gly15Arg)

SNV
Germline

Chr16:67660436

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 6
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_752006255

2 SubmittersRCV001922658 RCV002331422

NM_025099.6(CTC1):c.1156C>T (p.Gln386Ter)

SNV
Germline

Chr17:8235881

Pathogenic

Dyskeratosis congenita

Criteria Provided
Single Submitter

rs_1203574273

1 SubmittersRCV001994739

NM_001283009.2(RTEL1):c.3343+1G>T

SNV
Germline

Chr20:63694975

Likely pathogenic

Dyskeratosis congenita, autosomal recessive 5
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3

Criteria Provided
Single Submitter

rs_2145476311

1 SubmittersRCV002000425

NM_025099.6(CTC1):c.880C>T (p.Gln294Ter)

SNV
Germline

Chr17:8236255

Pathogenic

Dyskeratosis congenita

Criteria Provided
Single Submitter

rs_2151523798

1 SubmittersRCV002035253

NM_025099.6(CTC1):c.3387+1G>A

SNV
Germline

Chr17:8228726

Likely pathogenic

Dyskeratosis congenita

Criteria Provided
Single Submitter

rs_1242486415

1 SubmittersRCV001983639

NM_001283009.2(RTEL1):c.2992+1G>A

SNV
Germline

Chr20:63693284

Likely pathogenic

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita, autosomal recessive 5

Criteria Provided
Single Submitter

rs_1370553261

1 SubmittersRCV001978568

NM_025099.6(CTC1):c.33+2T>G

SNV
Germline

Chr17:8248002

Likely pathogenic

Dyskeratosis congenita

Criteria Provided
Single Submitter

rs_2151564155

1 SubmittersRCV001999563

NM_002582.4(PARN):c.1405+1G>T

SNV
Germline

Chr16:14554064

Likely pathogenic

Dyskeratosis congenita, autosomal recessive 6
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
Pulmonary fibrosis
PARN-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_1288345334

3 SubmittersRCV002037301 RCV002509705 RCV004552051

NM_001283009.2(RTEL1):c.2227C>T (p.Arg743Ter)

SNV
Germline

Chr20:63690172

Pathogenic/Likely pathogenic

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita, autosomal recessive 5
Condition: not provided
Dyskeratosis congenita, autosomal recessive 5

Criteria Provided
Multiple Submitters
No Conflicts

rs_2145430878

3 SubmittersRCV001932662 RCV002292675 RCV003471020

NM_001283009.2(RTEL1):c.3500-1G>A

SNV
Germline

Chr20:63695327

Likely pathogenic

Dyskeratosis congenita, autosomal recessive 5
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita, autosomal recessive 5

Criteria Provided
Multiple Submitters
No Conflicts

rs_1205986855

2 SubmittersRCV002012366 RCV003471242

NM_001283009.2(RTEL1):c.3124C>T (p.Gln1042Ter)

SNV
Germline

Chr20:63694755

Pathogenic

Dyskeratosis congenita, autosomal recessive 5
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3

Criteria Provided
Single Submitter

rs_929898540

1 SubmittersRCV001939342

NM_198253.3(TERT):c.2353C>T (p.Pro785Ser)

SNV
Germline

Chr5:1272214

Conflicting classifications of pathogenicity

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_755822641

2 SubmittersRCV002545543 RCV004558803

NM_001283009.2(RTEL1):c.3058G>T (p.Glu1020Ter)

SNV
Germline

Chr20:63694437

Pathogenic/Likely pathogenic

Dyskeratosis congenita, autosomal recessive 5
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_771746222

2 SubmittersRCV001946917 RCV003126044

NM_025099.6(CTC1):c.3515-3C>T

SNV
Germline

Chr17:8228322

Conflicting classifications of pathogenicity

Dyskeratosis congenita
CTC1-related disorder

Criteria Provided
Conflicting Classifications

rs_776835897

2 SubmittersRCV001913056 RCV003956438

NM_001283009.2(RTEL1):c.1263T>A (p.Tyr421Ter)

SNV
Germline

Chr20:63685594

Pathogenic

Dyskeratosis congenita, autosomal recessive 5
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3

Criteria Provided
Single Submitter

rs_2145411479

1 SubmittersRCV001972398

NM_001082486.2(ACD):c.1013G>A (p.Ser338Asn)

SNV
Germline

Chr16:67658179

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 6
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_368783801

2 SubmittersRCV001971938 RCV002370550

NM_198253.3(TERT):c.3118G>A (p.Ala1040Thr)

SNV
Germline

Chr5:1255326

Likely pathogenic

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Telomere syndrome

Criteria Provided
Single Submitter

rs_770144114

2 SubmittersRCV002579662 RCV003325413

NM_001283009.2(RTEL1):c.46C>T (p.Gln16Ter)

SNV
Germline

Chr20:63659448

Pathogenic

Dyskeratosis congenita, autosomal recessive 5
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3

Criteria Provided
Single Submitter

rs_2146141455

1 SubmittersRCV002042170

NM_025099.6(CTC1):c.2385+1G>C

SNV
Germline

Chr17:8231902

Likely pathogenic

Dyskeratosis congenita

Criteria Provided
Single Submitter

rs_2151508864

1 SubmittersRCV002001503

NM_001082486.2(ACD):c.1283G>A (p.Arg428Gln)

SNV
Germline

Chr16:67657777

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 6
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1397584716

2 SubmittersRCV001921852 RCV002397832

NM_198253.3(TERT):c.1612G>T (p.Glu538Ter)

SNV
Germline

Chr5:1282586

Pathogenic

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Single Submitter

rs_2126649912

1 SubmittersRCV002562752

NM_001283009.2(RTEL1):c.2142-2A>G

SNV
Germline

Chr20:63690085

Pathogenic/Likely pathogenic

Dyskeratosis congenita, autosomal recessive 5
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita, autosomal recessive 5

Criteria Provided
Multiple Submitters
No Conflicts

rs_2090696292

2 SubmittersRCV002015934 RCV003471252

NM_025099.6(CTC1):c.1078-13G>A

SNV
Germline

Chr17:8235972

Conflicting classifications of pathogenicity

Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_200325111

2 SubmittersRCV002094295

NM_198253.3(TERT):c.2844-12C>T

SNV
Germline

Chr5:1260612

Conflicting classifications of pathogenicity

Dyskeratosis congenita
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Conflicting Classifications

rs_199765802

2 SubmittersRCV002256898 RCV002551298

NM_198253.3(TERT):c.3033-13G>A

SNV
Germline

Chr5:1255424

Conflicting classifications of pathogenicity

Dyskeratosis congenita
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Conflicting Classifications

rs_746630679

2 SubmittersRCV002256916 RCV003015311

NM_198253.3(TERT):c.3018G>C (p.Leu1006=)

SNV
Germline

Chr5:1258612

Conflicting classifications of pathogenicity

Dyskeratosis congenita
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
TERT-related disorder

Criteria Provided
Conflicting Classifications

rs_941352340

4 SubmittersRCV002259171 RCV003093821 RCV004533966

NM_001283009.2(RTEL1):c.396-5A>C

SNV
Germline

Chr20:63662541

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal recessive 5
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1-related disorder

Criteria Provided
Conflicting Classifications

rs_761890952

2 SubmittersRCV002167140 RCV004529096

NM_001283009.2(RTEL1):c.103-13G>A

SNV
Germline

Chr20:63661285

Conflicting classifications of pathogenicity

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita, autosomal recessive 5
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_183862736

2 SubmittersRCV002111577 RCV002258381

NM_001363.5(DKC1):c.264-9C>T

SNV
Germline

ChrX:154766207

Conflicting classifications of pathogenicity

Dyskeratosis congenita
not specified

Criteria Provided
Conflicting Classifications

rs_1300109572

2 SubmittersRCV002114441 RCV002240301

NM_025099.6(CTC1):c.1542A>G (p.Leu514=)

SNV
Germline

Chr17:8234824

Conflicting classifications of pathogenicity

Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_369802087

2 SubmittersRCV002212523

NM_198253.3(TERT):c.2723C>T (p.Pro908Leu)

SNV
Germline

Chr5:1264524

Pathogenic

Dyskeratosis congenita, autosomal dominant 2

No Assertion Criteria Provided

rs_2126595178

1 SubmittersRCV002236397

NM_001283009.2(RTEL1):c.2851+1G>A

SNV
Germline

Chr20:63693004

Likely pathogenic

Dyskeratosis congenita
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita, autosomal recessive 5

Criteria Provided
Multiple Submitters
No Conflicts

rs_1421904176

2 SubmittersRCV002238667 RCV003774689

NM_001283009.2(RTEL1):c.2852-1G>C

SNV
Germline

Chr20:63693142

Likely pathogenic

Dyskeratosis congenita, autosomal recessive 5

Criteria Provided
Single Submitter

rs_2145448526

1 SubmittersRCV002249156

NM_198253.3(TERT):c.2131-2A>G

SNV
Germline

Chr5:1278798

Likely pathogenic

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003101364 RCV002331859

NM_025099.6(CTC1):c.1092C>T (p.Gly364=)

SNV
Germline

Chr17:8235945

Conflicting classifications of pathogenicity

Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_761668228

2 SubmittersRCV002256998

NM_025099.6(CTC1):c.1120G>T (p.Glu374Ter)

SNV
Germline

Chr17:8235917

Likely pathogenic

Dyskeratosis congenita

Criteria Provided
Single Submitter

rs_1987674659

1 SubmittersRCV002256999

NM_025099.6(CTC1):c.2386-10A>G

SNV
Germline

Chr17:8231825

Conflicting classifications of pathogenicity

Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_746382653

2 SubmittersRCV002257002

NM_001283009.2(RTEL1):c.1723-13C>T

SNV
Germline

Chr20:63688515

Conflicting classifications of pathogenicity

Dyskeratosis congenita
Dyskeratosis congenita, autosomal recessive 5
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3

Criteria Provided
Conflicting Classifications

rs_751640004

2 SubmittersRCV002255950 RCV003774781

NM_001283009.2(RTEL1):c.2852-12C>T

SNV
Germline

Chr20:63693131

Conflicting classifications of pathogenicity

Dyskeratosis congenita
Dyskeratosis congenita, autosomal recessive 5
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3

Criteria Provided
Conflicting Classifications

rs_745776915

2 SubmittersRCV002259235 RCV003101421

NM_001283009.2(RTEL1):c.3109+5C>T

SNV
Germline

Chr20:63694493

Conflicting classifications of pathogenicity

Dyskeratosis congenita
Dyskeratosis congenita, autosomal recessive 5
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1-related disorder

Criteria Provided
Conflicting Classifications

rs_372267276

3 SubmittersRCV002255953 RCV003094236 RCV004534003

NM_001071.4(TYMS):c.343C>T (p.Arg115Ter)

SNV
Germline

Chr18:662209

Pathogenic

Dyskeratosis congenita
Dyskeratosis congenita, digenic

Criteria Provided
Single Submitter

rs_2046518776

2 SubmittersRCV002269393 RCV002285186

NM_001071.4(TYMS):c.556+1G>A

SNV
Unknown

Chr18:669174

Pathogenic

Dyskeratosis congenita

Criteria Provided
Single Submitter

rs_2144335968

1 SubmittersRCV002269397

NM_001071.4(TYMS):c.811C>T (p.Arg271Ter)

SNV
Unknown

Chr18:672866

Pathogenic

Dyskeratosis congenita

Criteria Provided
Single Submitter

rs_1703168604

1 SubmittersRCV002269398

NM_001283009.2(RTEL1):c.2040G>T (p.Gln680His)

SNV
Germline

Chr20:63689764

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Dyskeratosis congenita, autosomal recessive 5
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1-related disorder

Criteria Provided
Conflicting Classifications

4 SubmittersRCV002284633 RCV002416554 RCV003097666 RCV004545279

NM_198253.3(TERT):c.3373T>G (p.Ser1125Ala)

SNV
Germline

Chr5:1253754

Conflicting classifications of pathogenicity

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003097927 RCV004558931

NM_198253.3(TERT):c.3328A>G (p.Thr1110Ala)

SNV
Germline

Chr5:1253799

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003775590 RCV004558970

NM_001099274.3(TINF2):c.815G>A (p.Trp272Ter)

SNV
Germline

Chr14:24240665

Pathogenic

Dyskeratosis congenita

Criteria Provided
Single Submitter

1 SubmittersRCV002421424

NM_198253.3(TERT):c.1409G>A (p.Arg470His)

SNV
Germline

Chr5:1293477

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
TERT-related disorder
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

3 SubmittersRCV003108072 RCV004534080 RCV004559479

NM_001082486.2(ACD):c.1299G>A (p.Arg433=)

SNV
Germline

Chr16:67657684

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 6
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003096930 RCV002405331

NM_001363.5(DKC1):c.189T>G (p.Asn63Lys)

SNV
Germline

ChrX:154765924

Pathogenic

Dyskeratosis congenita

Criteria Provided
Single Submitter

1 SubmittersRCV004060759

NM_001082486.2(ACD):c.847G>A (p.Gly283Ser)

SNV
Germline

Chr16:67658345

Conflicting classifications of pathogenicity

Inborn genetic diseases
Dyskeratosis congenita, autosomal dominant 6

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002426201 RCV003102005

NM_198253.3(TERT):c.2346G>T (p.Glu782Asp)

SNV
Germline

Chr5:1272221

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003101747 RCV004559562

NM_198253.3(TERT):c.2568G>T (p.Gly856=)

SNV
Germline

Chr5:1268534

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003101979 RCV004559583

NM_198253.3(TERT):c.2648T>G (p.Phe883Cys)

SNV
Germline

Chr5:1266470

Likely pathogenic

Dyskeratosis congenita

Criteria Provided
Single Submitter

1 SubmittersRCV004559591

NM_022836.4(DCLRE1B):c.426A>T (p.Leu142Phe)

SNV
Germline

Chr1:113908079

Pathogenic

Dyskeratosis congenita, autosomal recessive 8

No Assertion Criteria Provided

1 SubmittersRCV002462817

NM_022836.4(DCLRE1B):c.364C>T (p.Arg122Ter)

SNV
Germline

Chr1:113908017

Pathogenic

Dyskeratosis congenita, autosomal recessive 8

No Assertion Criteria Provided

1 SubmittersRCV002462818

NM_022836.4(DCLRE1B):c.425T>C (p.Leu142Ser)

SNV
Germline

Chr1:113908078

Pathogenic

Dyskeratosis congenita, autosomal recessive 8

No Assertion Criteria Provided

1 SubmittersRCV002462819

NM_001283009.2(RTEL1):c.1379C>T (p.Pro460Leu)

SNV
Germline

Chr20:63687668

Pathogenic

Dyskeratosis congenita, X-linked

No Assertion Criteria Provided

1 SubmittersRCV002464981

NM_025099.6(CTC1):c.436-1G>A

SNV
Germline

Chr17:8238243

Likely pathogenic

Dyskeratosis congenita

Criteria Provided
Single Submitter

1 SubmittersRCV003060240

NM_025099.6(CTC1):c.694C>T (p.Arg232Ter)

SNV
Germline

Chr17:8237473

Pathogenic

Dyskeratosis congenita

Criteria Provided
Single Submitter

1 SubmittersRCV003085545

NM_001283009.2(RTEL1):c.1333G>A (p.Ala445Thr)

SNV
Germline

Chr20:63685857

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal recessive 5
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1-related disorder

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003083642 RCV004536574

NM_001283009.2(RTEL1):c.178C>T (p.Arg60Ter)

SNV
Germline

Chr20:63661373

Pathogenic

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita, autosomal recessive 5

Criteria Provided
Single Submitter

1 SubmittersRCV002579263

NM_025099.6(CTC1):c.2605C>T (p.Gln869Ter)

SNV
Germline

Chr17:8231340

Pathogenic

Dyskeratosis congenita

Criteria Provided
Single Submitter

1 SubmittersRCV002579265

NM_198253.3(TERT):c.2113G>A (p.Glu705Lys)

SNV
Germline

Chr5:1279308

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003080428 RCV004560040

NM_025099.6(CTC1):c.495C>A (p.Tyr165Ter)

SNV
Germline

Chr17:8238183

Pathogenic

Dyskeratosis congenita

Criteria Provided
Single Submitter

1 SubmittersRCV002637813

NM_025099.6(CTC1):c.1A>G (p.Met1Val)

SNV
Germline

Chr17:8248036

Pathogenic

Dyskeratosis congenita

Criteria Provided
Single Submitter

1 SubmittersRCV002629981

NM_025099.6(CTC1):c.1496G>A (p.Ser499Asn)

SNV
Germline

Chr17:8234870

Conflicting classifications of pathogenicity

Dyskeratosis congenita
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002601721 RCV003289545

NM_198253.3(TERT):c.3032+1G>C

SNV
Germline

Chr5:1258597

Likely pathogenic

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Single Submitter

1 SubmittersRCV002622217

NM_001283009.2(RTEL1):c.61C>T (p.Gln21Ter)

SNV
Germline

Chr20:63659463

Pathogenic

Dyskeratosis congenita, autosomal recessive 5
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3

Criteria Provided
Single Submitter

1 SubmittersRCV002659462

NM_001283009.2(RTEL1):c.396-2A>G

SNV
Germline

Chr20:63662544

Likely pathogenic

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita, autosomal recessive 5

Criteria Provided
Single Submitter

1 SubmittersRCV002716218

NM_002582.4(PARN):c.328-2A>G

SNV
Germline

Chr16:14617652

Likely pathogenic

Dyskeratosis congenita, autosomal recessive 6
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4

Criteria Provided
Single Submitter

1 SubmittersRCV002717339

NM_001283009.2(RTEL1):c.2557-2A>G

SNV
Germline

Chr20:63691740

Likely pathogenic

Dyskeratosis congenita, autosomal recessive 5
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita, autosomal recessive 5

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002775632 RCV003465828

NM_001283009.2(RTEL1):c.72C>G (p.Tyr24Ter)

SNV
Germline

Chr20:63659474

Pathogenic

Dyskeratosis congenita, autosomal recessive 5
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3

Criteria Provided
Single Submitter

1 SubmittersRCV002800588

NM_001283009.2(RTEL1):c.1120C>T (p.Gln374Ter)

SNV
Germline

Chr20:63679931

Pathogenic

Dyskeratosis congenita, autosomal recessive 5
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3

Criteria Provided
Single Submitter

1 SubmittersRCV002786760

NM_001143992.2(WRAP53):c.438G>A (p.Trp146Ter)

SNV
Germline

Chr17:7689230

Conflicting classifications of pathogenicity

Condition: not provided
Dyskeratosis congenita, autosomal recessive 3

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002780510 RCV003465825

NM_002582.4(PARN):c.1414C>T (p.Gln472Ter)

SNV
Germline

Chr16:14552087

Pathogenic

Dyskeratosis congenita, autosomal recessive 6
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4

Criteria Provided
Single Submitter

1 SubmittersRCV002814926

NM_198253.3(TERT):c.505C>T (p.Gln169Ter)

SNV
Germline

Chr5:1294381

Pathogenic

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Single Submitter

1 SubmittersRCV002823989

NM_198253.3(TERT):c.2382+1G>T

SNV
Germline

Chr5:1272184

Likely pathogenic

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Single Submitter

1 SubmittersRCV002834223

NM_001283009.2(RTEL1):c.1103C>A (p.Ser368Ter)

SNV
Germline

Chr20:63679914

Pathogenic

Dyskeratosis congenita, autosomal recessive 5
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3

Criteria Provided
Single Submitter

1 SubmittersRCV002838885

NM_001283009.2(RTEL1):c.2045G>A (p.Trp682Ter)

SNV
Germline

Chr20:63689769

Pathogenic

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita, autosomal recessive 5

Criteria Provided
Single Submitter

1 SubmittersRCV002833670

NM_001283009.2(RTEL1):c.1111C>T (p.Gln371Ter)

SNV
Germline

Chr20:63679922

Pathogenic

Dyskeratosis congenita, autosomal recessive 5
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3

Criteria Provided
Single Submitter

1 SubmittersRCV002871878

NM_025099.6(CTC1):c.1207-1G>C

SNV
Germline

Chr17:8235286

Likely pathogenic

Dyskeratosis congenita

Criteria Provided
Single Submitter

1 SubmittersRCV002881294

NM_025099.6(CTC1):c.58C>T (p.Gln20Ter)

SNV
Germline

Chr17:8243124

Pathogenic

Dyskeratosis congenita

Criteria Provided
Single Submitter

1 SubmittersRCV002862780

NM_001283009.2(RTEL1):c.1367G>A (p.Trp456Ter)

SNV
Germline

Chr20:63687656

Pathogenic

Dyskeratosis congenita, autosomal recessive 5
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3

Criteria Provided
Single Submitter

1 SubmittersRCV002875828

NM_001283009.2(RTEL1):c.396-7C>T

SNV
Germline

Chr20:63662539

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal recessive 5
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002867523 RCV003435830

NM_025099.6(CTC1):c.1617+5G>T

SNV
Germline

Chr17:8234744

Pathogenic

Dyskeratosis congenita

Criteria Provided
Single Submitter

1 SubmittersRCV002890319

NM_002582.4(PARN):c.97+2T>C

SNV
Germline

Chr16:14629595

Likely pathogenic

Dyskeratosis congenita, autosomal recessive 6
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4

Criteria Provided
Single Submitter

1 SubmittersRCV002872509

NM_198253.3(TERT):c.2323C>T (p.Gln775Ter)

SNV
Germline

Chr5:1272244

Pathogenic

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Single Submitter

1 SubmittersRCV002918325

NM_025099.6(CTC1):c.2071C>T (p.Gln691Ter)

SNV
Germline

Chr17:8232217

Pathogenic

Dyskeratosis congenita

Criteria Provided
Single Submitter

1 SubmittersRCV002918980

NM_001283009.2(RTEL1):c.2749C>T (p.Gln917Ter)

SNV
Germline

Chr20:63692901

Pathogenic

Dyskeratosis congenita, autosomal recessive 5
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3

Criteria Provided
Single Submitter

1 SubmittersRCV002933119

NM_001283009.2(RTEL1):c.3005C>T (p.Pro1002Leu)

SNV
Germline

Chr20:63694384

Conflicting classifications of pathogenicity

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita, autosomal recessive 5
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002927735 RCV004067024

NM_198253.3(TERT):c.2130+1G>C

SNV
Germline

Chr5:1279290

Likely pathogenic

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Single Submitter

1 SubmittersRCV002929149

NM_001283009.2(RTEL1):c.1038-2A>G

SNV
Germline

Chr20:63679847

Likely pathogenic

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita, autosomal recessive 5

Criteria Provided
Single Submitter

1 SubmittersRCV003009605

NM_001283009.2(RTEL1):c.2966G>A (p.Arg989Gln)

SNV
Germline

Chr20:63693257

Conflicting classifications of pathogenicity

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita, autosomal recessive 5
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002999447 RCV003170822

NM_198253.3(TERT):c.757C>T (p.Gln253Ter)

SNV
Germline

Chr5:1294129

Pathogenic

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Single Submitter

1 SubmittersRCV002999504

NM_001283009.2(RTEL1):c.3109+2T>G

SNV
Germline

Chr20:63694490

Likely pathogenic

Dyskeratosis congenita, autosomal recessive 5
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3

Criteria Provided
Single Submitter

1 SubmittersRCV003029602

NM_001283009.2(RTEL1):c.2026-2A>G

SNV
Germline

Chr20:63689748

Likely pathogenic

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita, autosomal recessive 5
Dyskeratosis congenita, autosomal recessive 5

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003059634 RCV004572716

NM_002582.4(PARN):c.1318+2T>C

SNV
Germline

Chr16:14555652

Likely pathogenic

Dyskeratosis congenita, autosomal recessive 6
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4

Criteria Provided
Single Submitter

1 SubmittersRCV003059635

NM_198253.3(TERT):c.3073G>T (p.Val1025Phe)

SNV
Germline

Chr5:1255371

Pathogenic

Dyskeratosis congenita, autosomal dominant 2

No Assertion Criteria Provided

1 SubmittersRCV003227578

NM_001363.5(DKC1):c.114C>G (p.Ile38Met)

SNV
Germline

ChrX:154765473

Likely pathogenic

Dyskeratosis congenita, X-linked

Criteria Provided
Single Submitter

1 SubmittersRCV003445289

NM_001283009.2(RTEL1):c.1921G>A (p.Val641Met)

SNV
Unknown

Chr20:63689544

Likely pathogenic

Dyskeratosis congenita, autosomal recessive 5

Criteria Provided
Single Submitter

1 SubmittersRCV003466269

NM_001283009.2(RTEL1):c.302-2A>G

SNV
Unknown

Chr20:63661848

Likely pathogenic

Dyskeratosis congenita, autosomal recessive 5

Criteria Provided
Single Submitter

1 SubmittersRCV003466270

NM_001283009.2(RTEL1):c.2527C>T (p.Gln843Ter)

SNV
Unknown

Chr20:63690918

Likely pathogenic

Dyskeratosis congenita, autosomal recessive 5

Criteria Provided
Single Submitter

1 SubmittersRCV003466275

NM_001283009.2(RTEL1):c.614+1G>C

SNV
Unknown

Chr20:63666080

Likely pathogenic

Dyskeratosis congenita, autosomal recessive 5

Criteria Provided
Single Submitter

1 SubmittersRCV003466277

NM_001283009.2(RTEL1):c.478-2A>G

SNV
Unknown

Chr20:63662827

Likely pathogenic

Dyskeratosis congenita, autosomal recessive 5

Criteria Provided
Single Submitter

1 SubmittersRCV003466278

NM_001283009.2(RTEL1):c.2141+1G>T

SNV
Unknown

Chr20:63689866

Likely pathogenic

Dyskeratosis congenita, autosomal recessive 5

Criteria Provided
Single Submitter

1 SubmittersRCV003466284

NM_001283009.2(RTEL1):c.2653-1G>A

SNV
Unknown

Chr20:63692804

Likely pathogenic

Dyskeratosis congenita, autosomal recessive 5

Criteria Provided
Single Submitter

1 SubmittersRCV003466285

NM_001283009.2(RTEL1):c.2180G>A (p.Trp727Ter)

SNV
Unknown

Chr20:63690125

Likely pathogenic

Dyskeratosis congenita, autosomal recessive 5

Criteria Provided
Single Submitter

1 SubmittersRCV003466286

NM_001283009.2(RTEL1):c.2608G>T (p.Glu870Ter)

SNV
Unknown

Chr20:63691793

Likely pathogenic

Dyskeratosis congenita, autosomal recessive 5

Criteria Provided
Single Submitter

1 SubmittersRCV003466287

NM_001283009.2(RTEL1):c.2142-1G>C

SNV
Unknown

Chr20:63690086

Likely pathogenic

Dyskeratosis congenita, autosomal recessive 5

Criteria Provided
Single Submitter

1 SubmittersRCV003466289

NM_001283009.2(RTEL1):c.919+1G>T

SNV
Unknown

Chr20:63674094

Likely pathogenic

Dyskeratosis congenita, autosomal recessive 5

Criteria Provided
Single Submitter

1 SubmittersRCV003466292

NM_001283009.2(RTEL1):c.2992+1G>C

SNV
Unknown

Chr20:63693284

Likely pathogenic

Dyskeratosis congenita, autosomal recessive 5

Criteria Provided
Single Submitter

1 SubmittersRCV003466295

NM_001283009.2(RTEL1):c.1264A>T (p.Lys422Ter)

SNV
Unknown

Chr20:63685595

Likely pathogenic

Dyskeratosis congenita, autosomal recessive 5

Criteria Provided
Single Submitter

1 SubmittersRCV003466297

NM_001283009.2(RTEL1):c.2413+1G>A

SNV
Germline

Chr20:63690442

Likely pathogenic

Dyskeratosis congenita, autosomal recessive 5
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita, autosomal recessive 5

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003466298 RCV003779103

NM_001283009.2(RTEL1):c.2674C>T (p.Gln892Ter)

SNV
Unknown

Chr20:63692826

Likely pathogenic

Dyskeratosis congenita, autosomal recessive 5

Criteria Provided
Single Submitter

1 SubmittersRCV003466299

NM_001363.5(DKC1):c.964C>T (p.Arg322Ter)

SNV
Unknown

ChrX:154770807

Likely pathogenic

Dyskeratosis congenita, X-linked

Criteria Provided
Single Submitter

1 SubmittersRCV003459971

NM_025099.6(CTC1):c.896G>A (p.Trp299Ter)

SNV
Germline

Chr17:8236239

Pathogenic

Dyskeratosis congenita

Criteria Provided
Single Submitter

1 SubmittersRCV003530367

NM_001099274.3(TINF2):c.869T>C (p.Phe290Ser)

SNV
Germline

Chr14:24240611

Likely pathogenic

Dyskeratosis congenita

Criteria Provided
Single Submitter

1 SubmittersRCV003531078

NM_025099.6(CTC1):c.3387+1G>C

SNV
Germline

Chr17:8228726

Likely pathogenic

Dyskeratosis congenita

Criteria Provided
Single Submitter

1 SubmittersRCV003646460

NM_025099.6(CTC1):c.1A>T (p.Met1Leu)

SNV
Germline

Chr17:8248036

Pathogenic

Dyskeratosis congenita

Criteria Provided
Single Submitter

1 SubmittersRCV003646874

NM_025099.6(CTC1):c.3221+2T>C

SNV
Germline

Chr17:8229140

Likely pathogenic

Dyskeratosis congenita

Criteria Provided
Single Submitter

1 SubmittersRCV003646929

NM_025099.6(CTC1):c.946C>T (p.Gln316Ter)

SNV
Germline

Chr17:8236189

Pathogenic

Dyskeratosis congenita

Criteria Provided
Single Submitter

1 SubmittersRCV003647148

NM_198253.3(TERT):c.950G>A (p.Trp317Ter)

SNV
Germline

Chr5:1293936

Pathogenic

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Single Submitter

1 SubmittersRCV003785418

NM_198253.3(TERT):c.1246C>T (p.Arg416Ter)

SNV
Germline

Chr5:1293640

Pathogenic

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Single Submitter

1 SubmittersRCV003782297

NM_002582.4(PARN):c.1005+2T>A

SNV
Germline

Chr16:14584747

Likely pathogenic

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
Dyskeratosis congenita, autosomal recessive 6

Criteria Provided
Single Submitter

1 SubmittersRCV003782353

NM_001283009.2(RTEL1):c.3514G>T (p.Glu1172Ter)

SNV
Germline

Chr20:63695342

Pathogenic

Dyskeratosis congenita, autosomal recessive 5
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3

Criteria Provided
Single Submitter

1 SubmittersRCV003793541

NM_001283009.2(RTEL1):c.1699G>T (p.Glu567Ter)

SNV
Germline

Chr20:63688363

Pathogenic

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita, autosomal recessive 5

Criteria Provided
Single Submitter

1 SubmittersRCV003785292

NM_001283009.2(RTEL1):c.3109+2T>C

SNV
Germline

Chr20:63694490

Likely pathogenic

Dyskeratosis congenita, autosomal recessive 5
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3

Criteria Provided
Single Submitter

1 SubmittersRCV003789831

NM_198253.3(TERT):c.1573+2T>A

SNV
Germline

Chr5:1293311

Likely pathogenic

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Single Submitter

1 SubmittersRCV003780416

NM_001283009.2(RTEL1):c.395+1G>T

SNV
Germline

Chr20:63661944

Likely pathogenic

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita, autosomal recessive 5

Criteria Provided
Single Submitter

1 SubmittersRCV003780715

NM_001283009.2(RTEL1):c.2887C>T (p.Gln963Ter)

SNV
Germline

Chr20:63693178

Pathogenic

Dyskeratosis congenita, autosomal recessive 5
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3

Criteria Provided
Single Submitter

1 SubmittersRCV003798337

NM_002582.4(PARN):c.1645C>T (p.Gln549Ter)

SNV
Germline

Chr16:14482663

Pathogenic

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
Dyskeratosis congenita, autosomal recessive 6

Criteria Provided
Single Submitter

1 SubmittersRCV003796508

NM_001283009.2(RTEL1):c.2142-1G>T

SNV
Germline

Chr20:63690086

Likely pathogenic

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita, autosomal recessive 5

Criteria Provided
Single Submitter

1 SubmittersRCV003807816

NM_001283009.2(RTEL1):c.1345C>T (p.Arg449Ter)

SNV
Germline

Chr20:63685869

Pathogenic/Likely pathogenic

Dyskeratosis congenita, autosomal recessive 5
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita, autosomal recessive 5

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003807875 RCV004573328

NM_002582.4(PARN):c.1481-1G>A

SNV
Germline

Chr16:14482828

Likely pathogenic

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
Dyskeratosis congenita, autosomal recessive 6

Criteria Provided
Single Submitter

1 SubmittersRCV003807917

NM_001283009.2(RTEL1):c.477+1G>A

SNV
Germline

Chr20:63662628

Likely pathogenic

Dyskeratosis congenita, autosomal recessive 5
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3

Criteria Provided
Single Submitter

1 SubmittersRCV003808335

NM_001283009.2(RTEL1):c.2401C>T (p.Gln801Ter)

SNV
Germline

Chr20:63690429

Pathogenic

Dyskeratosis congenita, autosomal recessive 5
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3

Criteria Provided
Single Submitter

1 SubmittersRCV003791792

NM_198253.3(TERT):c.1831G>T (p.Glu611Ter)

SNV
Germline

Chr5:1280277

Pathogenic

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Single Submitter

1 SubmittersRCV003805396

NM_001283009.2(RTEL1):c.3610C>T (p.Gln1204Ter)

SNV
Germline

Chr20:63695438

Pathogenic

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita, autosomal recessive 5

Criteria Provided
Single Submitter

1 SubmittersRCV003803724

NM_002582.4(PARN):c.1671-1G>T

SNV
Germline

Chr16:14447082

Likely pathogenic

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
Dyskeratosis congenita, autosomal recessive 6

Criteria Provided
Single Submitter

1 SubmittersRCV003804035

NM_002582.4(PARN):c.1262+2T>C

SNV
Germline

Chr16:14580872

Likely pathogenic

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
Dyskeratosis congenita, autosomal recessive 6

Criteria Provided
Single Submitter

1 SubmittersRCV003801598

NM_198253.3(TERT):c.329G>T (p.Gly110Val)

SNV
Germline

Chr5:1294557

Likely pathogenic

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Single Submitter

1 SubmittersRCV003798846

NM_001283009.2(RTEL1):c.2992+2T>A

SNV
Germline

Chr20:63693285

Likely pathogenic

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita, autosomal recessive 5

Criteria Provided
Single Submitter

1 SubmittersRCV003802965

NM_198253.3(TERT):c.2970+1G>A

SNV
Germline

Chr5:1260473

Likely pathogenic

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Single Submitter

1 SubmittersRCV003803039

NM_001283009.2(RTEL1):c.2713C>T (p.Gln905Ter)

SNV
Germline

Chr20:63692865

Pathogenic

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita, autosomal recessive 5

Criteria Provided
Single Submitter

1 SubmittersRCV003805317

NM_198253.3(TERT):c.2130+2T>G

SNV
Germline

Chr5:1279289

Likely pathogenic

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Single Submitter

1 SubmittersRCV003803273

NM_198253.3(TERT):c.1574-1G>C

SNV
Germline

Chr5:1282625

Likely pathogenic

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Single Submitter

1 SubmittersRCV003801431

NM_198253.3(TERT):c.2286+1G>T

SNV
Germline

Chr5:1278640

Likely pathogenic

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Single Submitter

1 SubmittersRCV003792572

NM_198253.3(TERT):c.3212A>G (p.Gln1071Arg)

SNV
Germline

Chr5:1254451

Conflicting classifications of pathogenicity

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003795088 RCV004559010

NM_001283009.2(RTEL1):c.850G>T (p.Glu284Ter)

SNV
Germline

Chr20:63674024

Pathogenic

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita, autosomal recessive 5

Criteria Provided
Single Submitter

1 SubmittersRCV003802673

NM_198253.3(TERT):c.1805C>A (p.Ser602Ter)

SNV
Germline

Chr5:1280303

Pathogenic

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Single Submitter

1 SubmittersRCV003808505

NM_002582.4(PARN):c.784-1G>A

SNV
Germline

Chr16:14599961

Likely pathogenic

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
Dyskeratosis congenita, autosomal recessive 6

Criteria Provided
Single Submitter

1 SubmittersRCV003800767

NM_001283009.2(RTEL1):c.2046G>A (p.Trp682Ter)

SNV
Germline

Chr20:63689770

Pathogenic

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita, autosomal recessive 5

Criteria Provided
Single Submitter

1 SubmittersRCV003809033

NM_001283009.2(RTEL1):c.919+2T>C

SNV
Germline

Chr20:63674095

Likely pathogenic

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita, autosomal recessive 5

Criteria Provided
Single Submitter

1 SubmittersRCV003807123

NM_198253.3(TERT):c.2380C>T (p.Gln794Ter)

SNV
Germline

Chr5:1272187

Pathogenic

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Single Submitter

1 SubmittersRCV003809225

NM_001283009.2(RTEL1):c.3499+2T>C

SNV
Germline

Chr20:63695223

Likely pathogenic

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita, autosomal recessive 5

Criteria Provided
Single Submitter

1 SubmittersRCV003801974

NM_002582.4(PARN):c.994C>T (p.Gln332Ter)

SNV
Germline

Chr16:14584760

Pathogenic

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
Dyskeratosis congenita, autosomal recessive 6

Criteria Provided
Single Submitter

1 SubmittersRCV003802047

NM_001283009.2(RTEL1):c.2802T>A (p.Cys934Ter)

SNV
Germline

Chr20:63692954

Pathogenic

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita, autosomal recessive 5

Criteria Provided
Single Submitter

1 SubmittersRCV003804559

NM_001283009.2(RTEL1):c.3109+1G>T

SNV
Germline

Chr20:63694489

Likely pathogenic

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita, autosomal recessive 5

Criteria Provided
Single Submitter

1 SubmittersRCV003817965

NM_001283009.2(RTEL1):c.2557-1G>A

SNV
Germline

Chr20:63691741

Likely pathogenic

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita, autosomal recessive 5

Criteria Provided
Single Submitter

1 SubmittersRCV003809546

NM_198253.3(TERT):c.2654+1G>C

SNV
Germline

Chr5:1266463

Likely pathogenic

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Single Submitter

1 SubmittersRCV003810011

NM_001283009.2(RTEL1):c.2266-2A>G

SNV
Germline

Chr20:63690292

Likely pathogenic

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita, autosomal recessive 5

Criteria Provided
Single Submitter

1 SubmittersRCV003807632

NM_198253.3(TERT):c.2130+1G>A

SNV
Germline

Chr5:1279290

Likely pathogenic

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Single Submitter

1 SubmittersRCV003812700

NM_198253.3(TERT):c.2790G>A (p.Trp930Ter)

SNV
Germline

Chr5:1264457

Pathogenic

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Single Submitter

1 SubmittersRCV003810562

NM_001283009.2(RTEL1):c.2413+1G>T

SNV
Germline

Chr20:63690442

Likely pathogenic

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita, autosomal recessive 5

Criteria Provided
Single Submitter

1 SubmittersRCV003812305

NM_001283009.2(RTEL1):c.3499+1G>A

SNV
Germline

Chr20:63695222

Likely pathogenic

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita, autosomal recessive 5

Criteria Provided
Single Submitter

1 SubmittersRCV003810267

NM_025099.6(CTC1):c.802C>T (p.Gln268Ter)

SNV
Germline

Chr17:8236333

Pathogenic

Dyskeratosis congenita

Criteria Provided
Single Submitter

1 SubmittersRCV003843279

NM_025099.6(CTC1):c.1077+1G>A

SNV
Germline

Chr17:8236057

Likely pathogenic

Dyskeratosis congenita

Criteria Provided
Single Submitter

1 SubmittersRCV003873241

NM_002582.4(PARN):c.918+5G>A

SNV
Germline

Chr16:14593296

Likely pathogenic

Dyskeratosis congenita, autosomal recessive 6

Criteria Provided
Single Submitter

1 SubmittersRCV004555201

NM_198253.3(TERT):c.1452A>C (p.Glu484Asp)

SNV
Germline

Chr5:1293434

Pathogenic

Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Single Submitter

1 SubmittersRCV004560349

NM_001099274.3(TINF2):c.865C>G (p.Pro289Ala)

SNV
Germline

Chr14:24240615

Likely pathogenic

Dyskeratosis congenita, autosomal dominant 3

Criteria Provided
Single Submitter

1 SubmittersRCV004560351

NM_001283009.2(RTEL1):c.302-1G>C

SNV
Unknown

Chr20:63661849

Likely pathogenic

Dyskeratosis congenita, autosomal recessive 5

Criteria Provided
Single Submitter

1 SubmittersRCV004574799

NM_001283009.2(RTEL1):c.3650G>A (p.Trp1217Ter)

SNV
Unknown

Chr20:63695478

Likely pathogenic

Dyskeratosis congenita, autosomal recessive 5

Criteria Provided
Single Submitter

1 SubmittersRCV004574804

NM_198253.3(TERT):c.219+2T>A

SNV
Unknown

Chr5:1294769

Likely pathogenic

Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Single Submitter

1 SubmittersRCV004573708

NM_198253.3(TERT):c.1951-2A>C

SNV
Unknown

Chr5:1279472

Likely pathogenic

Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Single Submitter

1 SubmittersRCV004573711