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 Dyskeratosis congenita, autosomal dominant 1 Revesz syndrome Dyskeratosis congenita, autosomal dominant 3	Criteria Provided Multiple Submitters No Conflicts	CA117651	rs_121918544	10 SubmittersRCV000005978 RCV000005979 RCV001509450 RCV001382425 RCV002490324
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 Dyskeratosis congenita Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA117653	rs_121918545	9 SubmittersRCV000005981 RCV000032169 RCV001054196 RCV000434257
NR_001566.3(TERC):n.408C>G	SNV Unknown	Chr3:169764653	Pathogenic	Dyskeratosis congenita, autosomal dominant 1	No Assertion Criteria Provided	CA340671	rs_199422284	2 SubmittersRCV000007744
NR_001566.3(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_001566.3(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 Pulmonary fibrosis Condition: not provided	Criteria Provided Conflicting Classifications	CA118716	rs_199422272	5 SubmittersRCV000007750 RCV000032559 RCV002509148 RCV001818142
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 DKC1-related disorder	No Assertion Criteria Provided	CA913184922	rs_1603429348	2 SubmittersRCV000012347 RCV004730843
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	6 SubmittersRCV000012350 RCV000055630 RCV000479038 RCV001857333
NM_001363.5(DKC1):c.113T>C (p.Ile38Thr)	SNV Germline	ChrX:154765472	Pathogenic	Dyskeratosis congenita, X-linked Hoyeraal-Hreidarsson syndrome	No Assertion Criteria Provided	CA264769	rs_28936072	3 SubmittersRCV000055631 RCV000012351
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	CA414898522	rs_1569558616	1 SubmittersRCV000012354
NM_198253.3(TERT):c.604G>A (p.Ala202Thr)	SNV Germline	Chr5:1294282	Conflicting classifications of pathogenicity	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Aplastic anemia not specified Condition: not provided Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita TERT-related disorder Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications	CA122653	rs_121918661	21 SubmittersRCV000013566 RCV000032398 RCV000604322 RCV000489117 RCV000758251 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 not specified Autosomal recessive dyskeratosis congenita 4 Dyskeratosis congenita, autosomal dominant 2 Condition: not provided Dyskeratosis congenita Melanoma, cutaneous malignant, susceptibility to, 9 Acute myeloid leukemia Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications	CA122655	rs_34094720	15 SubmittersRCV000013567 RCV000032365 RCV000218461 RCV000190902 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 Pulmonary fibrosis TERT-related disorder Dyskeratosis congenita Condition: not provided	Criteria Provided Conflicting Classifications	CA122657	rs_121918662	7 SubmittersRCV000013568 RCV000032373 RCV002513015 RCV002509152 RCV004532332 RCV004558246 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 Pulmonary fibrosis Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Multiple Submitters No Conflicts	CA122665	rs_121918666	7 SubmittersRCV000013573 RCV000032385 RCV000412959 RCV002509153 RCV003460466 RCV002513016
NM_198253.3(TERT):c.219+1G>A	SNV Germline	Chr5:1294770	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	Criteria Provided Multiple Submitters No Conflicts	CA122668	rs_199422309	4 SubmittersRCV000013575 RCV000032380 RCV004700226 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 Condition: not provided Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Pulmonary fibrosis Dyskeratosis congenita Telomere syndrome	Criteria Provided Multiple Submitters No Conflicts	CA128724	rs_199422294	12 SubmittersRCV000022783 RCV000032370 RCV000677344 RCV003150932 RCV002513175 RCV002509167 RCV004558270 RCV003325404
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 Dyskeratosis congenita, autosomal dominant 2 Condition: not provided Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 not specified Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA128727	rs_199422301	7 SubmittersRCV000022784 RCV000032383 RCV002051796 RCV001797047 RCV002513176 RCV005237404 RCV005278528
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 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications	CA128729	rs_199422304	4 SubmittersRCV000022785 RCV000032388 RCV004558271 RCV003764630
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	6 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 Condition: not provided Dyskeratosis congenita	Criteria Provided Multiple Submitters No Conflicts	CA129608	rs_202138550	5 SubmittersRCV000023987 RCV001268611 RCV000533706
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	Likely pathogenic	Cerebroretinal microangiopathy with calcifications and cysts 1 Dyskeratosis congenita Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA129611	rs_373905859	5 SubmittersRCV000023990 RCV001051564 RCV001551084
NM_025099.6(CTC1):c.1994T>G (p.Val665Gly)	SNV Germline	Chr17:8232427	Pathogenic	Cerebroretinal microangiopathy with calcifications and cysts 1 Condition: not provided Dyskeratosis congenita	Criteria Provided Multiple Submitters No Conflicts	CA129614	rs_199473676	5 SubmittersRCV000023993 RCV003227608 RCV005089310
NM_025099.6(CTC1):c.3583C>T (p.Arg1195Ter)	SNV Germline	Chr17:8228251	Pathogenic/Likely pathogenic	Cerebroretinal microangiopathy with calcifications and cysts 1 Dyskeratosis congenita Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA129615	rs_199473682	3 SubmittersRCV000023994 RCV003645857 RCV004700276
NM_025099.6(CTC1):c.680C>T (p.Ala227Val)	SNV Germline	Chr17:8237487	Pathogenic	Dyskeratosis congenita Cerebroretinal microangiopathy with calcifications and cysts 1	Criteria Provided Multiple Submitters No Conflicts	CA129617	rs_199473673	3 SubmittersRCV002513215 RCV000023995
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 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 TERT-related disorder Intellectual disability	Criteria Provided Conflicting Classifications	CA044696	rs_141425941	8 SubmittersRCV001549913 RCV004822024 RCV003992244 RCV002518376 RCV003325196 RCV004734891 RCV005625474
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	CA044715	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 Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Multiple Submitters No Conflicts	CA129984	rs_387907249	6 SubmittersRCV000030629 RCV003447479 RCV002513272
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 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita not specified	Criteria Provided Conflicting Classifications	CA129988	rs_387907251	6 SubmittersRCV000030631 RCV001753435 RCV002513273 RCV004558275 RCV004767022
NM_001099274.3(TINF2):c.734C>A (p.Ser245Tyr)	SNV Germline	Chr14:24240746	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 1 Dyskeratosis congenita, autosomal dominant 3 Dyskeratosis congenita Revesz syndrome not specified Malignant tumor of breast Condition: not provided Dyskeratosis congenita, autosomal dominant 1 Revesz syndrome Dyskeratosis congenita, autosomal dominant 3	Criteria Provided Conflicting Classifications	CA343172	rs_142777869	11 SubmittersRCV000032164 RCV000394153 RCV000545340 RCV000350321 RCV001731323 RCV001269497 RCV004703189 RCV002496488
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 Dyskeratosis congenita Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA343187	rs_199422316	3 SubmittersRCV000032175 RCV001852639 RCV001818202
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_001363.5(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	16 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_001363.5(DKC1):c.949C>T (p.Leu317Phe)	SNV Germline	ChrX:154770792	Likely pathogenic	Dyskeratosis congenita, X-linked Dyskeratosis congenita	Criteria Provided Single Submitter	CA343262	rs_121912290	3 SubmittersRCV000032208 RCV004018699
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 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Condition: not provided Pulmonary fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA343424	rs_199422293	5 SubmittersRCV000032367 RCV002326716 RCV002514131 RCV004808559 RCV002509174 RCV004558276
TERT:c.1710G>Y (p.Lys570Asn)	SNV Unknown	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 Pulmonary fibrosis Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita TERT-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA128731	rs_199422297	9 SubmittersRCV000022786 RCV000032375 RCV000520116 RCV002509175 RCV003103717 RCV003460537 RCV004558278 RCV004799751
NM_198253.3(TERT):c.2147C>T (p.Ala716Val)	SNV Germline	Chr5:1278780	Pathogenic/Likely pathogenic	Aplastic anemia Condition: not provided Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Multiple Submitters No Conflicts	CA343437	rs_199422298	7 SubmittersRCV000032376 RCV001576802 RCV004786285 RCV002514132 RCV004558279
NM_198253.3(TERT):c.2177C>T (p.Thr726Met)	SNV Germline	Chr5:1278750	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 1 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Condition: not provided Melanoma, cutaneous malignant, susceptibility to, 9 Acute myeloid leukemia Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Dyskeratosis congenita, autosomal dominant 2 Interstitial lung disease 2 Dyskeratosis congenita not specified TERT-related disorder Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications	CA343442	rs_149566858	10 SubmittersRCV000032378 RCV002514133 RCV003137552 RCV005031467 RCV000987499 RCV005278529 RCV001818203 RCV004532476 RCV003466884
NM_198253.3(TERT):c.2935C>T (p.Arg979Trp)	SNV Germline/somatic	Chr5:1260509	Likely pathogenic	Dyskeratosis congenita, autosomal dominant 1 Aplastic anemia Pulmonary fibrosis Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1	Criteria Provided Multiple Submitters No Conflicts	CA170795	rs_199422305	5 SubmittersRCV000032390 RCV000144245 RCV002509176 RCV002513300 RCV005250001
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 Dyskeratosis congenita, autosomal dominant 2 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Breast carcinoma Condition: not provided Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA129990	rs_35719940	18 SubmittersRCV000030632 RCV000032393 RCV000151992 RCV000305704 RCV000395635 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 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Pulmonary fibrosis	Criteria Provided Conflicting Classifications	CA343461	rs_199422291	5 SubmittersRCV000032397 RCV000256024 RCV002513303 RCV002509178
NR_001566.3(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 Dyskeratosis congenita, autosomal recessive 5 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Inborn genetic diseases Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 See cases	Criteria Provided Multiple Submitters No Conflicts	CA130947	rs_201540674	17 SubmittersRCV000034860 RCV000201662 RCV000524079 RCV000586517 RCV000814441 RCV002513343 RCV003329238 RCV002222150
NM_001283009.2(RTEL1):c.1476G>T (p.Met492Ile)	SNV Germline	Chr20:63687765	Pathogenic/Likely pathogenic	Dyskeratosis congenita, autosomal recessive 5 Dyskeratosis congenita Dyskeratosis congenita, autosomal recessive 5 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 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 Pulmonary fibrosis Condition: not provided Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3	Criteria Provided Multiple Submitters No Conflicts	CA130951	rs_398123017	15 SubmittersRCV000034862 RCV000201744 RCV000589642 RCV000651094 RCV002509182 RCV001558635 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 Dyskeratosis congenita, autosomal recessive 5 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Condition: not provided RTEL1-related disorder Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3	Criteria Provided Conflicting Classifications	CA130954	rs_398123018	11 SubmittersRCV000034863 RCV000588014 RCV001239040 RCV003129761 RCV004534729 RCV004786293
NM_001283009.2(RTEL1):c.3730T>C (p.Cys1244Arg)	SNV Germline	Chr20:63695558	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 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA144777	rs_587777037	6 SubmittersRCV000055634 RCV002464103 RCV002513726 RCV003258663
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 Dyskeratosis congenita, autosomal recessive 5 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3	Criteria Provided Conflicting Classifications	CA144783	rs_398123050	5 SubmittersRCV000055637 RCV005222735
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 Dyskeratosis congenita Condition: not provided Dyskeratosis congenita, autosomal recessive 5 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Dyskeratosis congenita, autosomal recessive 5 Pulmonary fibrosis RTEL1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA144786	rs_373740199	17 SubmittersRCV000055639 RCV000502656 RCV000336673 RCV000665130 RCV000703852 RCV002509196 RCV004537250
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 Aplastic anemia Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Condition: not provided Dyskeratosis congenita Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Conflicting Classifications	CA178124	rs_181612536	14 SubmittersRCV000151993 RCV000313027 RCV000399240 RCV000366513 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 Pulmonary fibrosis Dyskeratosis congenita, autosomal recessive 6 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA10575708	rs_876661305	4 SubmittersRCV000170590 RCV002509273 RCV003765062 RCV001311427
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 Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	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 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA205223	rs_797045923	4 SubmittersRCV000192413 RCV000670442 RCV001475667 RCV005268569
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 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Dyskeratosis congenita, autosomal recessive 5	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 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Dyskeratosis congenita, autosomal recessive 5 Dyskeratosis congenita RTEL1-related disorder Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA210095	rs_146221660	8 SubmittersRCV000201575 RCV000666023 RCV001309992 RCV001833164 RCV004530203 RCV003329259 RCV004589868
NM_001283009.2(RTEL1):c.1482-1G>A	SNV Germline	Chr20:63687936	Pathogenic/Likely pathogenic	Interstitial lung disease 2 Dyskeratosis congenita Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Dyskeratosis congenita, autosomal recessive 5	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 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Dyskeratosis congenita, autosomal recessive 5	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 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 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184905	rs_375423906	4 SubmittersRCV000218700 RCV001152948 RCV001152947 RCV001155583 RCV002517511 RCV004558465
NM_018648.4(NOP10):c.34G>C (p.Asp12His)	SNV Germline	Chr15:34343040	Conflicting classifications of pathogenicity	Condition: not provided not specified Dyskeratosis congenita, autosomal recessive 1 Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9	Criteria Provided Conflicting Classifications	CA7464815	rs_146261631	9 SubmittersRCV000224102 RCV000503008 RCV001084193 RCV005409634
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.3257G>A (p.Arg1086His)	SNV Germline	Chr5:1254406	Conflicting classifications of pathogenicity	not specified Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Condition: not provided Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita Melanoma, cutaneous malignant, susceptibility to, 9 Dyskeratosis congenita, autosomal dominant 2 Acute myeloid leukemia Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 TERT-related disorder	Criteria Provided Conflicting Classifications	CA3184242	rs_200288187	10 SubmittersRCV001820783 RCV002518382 RCV003126647 RCV003469173 RCV004822025 RCV005031821 RCV004734892
NM_198253.3(TERT):c.2991G>A (p.Val997=)	SNV Germline	Chr5:1258639	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 Acute myeloid leukemia Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Melanoma, cutaneous malignant, susceptibility to, 9	Criteria Provided Conflicting Classifications	CA3184323	rs_376266401	6 SubmittersRCV001156515 RCV001154848 RCV001154849 RCV001820782 RCV002255342 RCV003316312 RCV003103748 RCV005235201
NM_198253.3(TERT):c.2971-10G>T	SNV Germline	Chr5:1258669	Conflicting classifications of pathogenicity	not specified Condition: not provided Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis TERT-related disorder	Criteria Provided Conflicting Classifications	CA10582350	rs_878855303	4 SubmittersRCV001820781 RCV003237799 RCV002519813 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 Acute myeloid leukemia Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Conflicting Classifications	CA3184401	rs_200174990	7 SubmittersRCV000499661 RCV000732368 RCV002256178 RCV003316311 RCV002518377
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 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Dyskeratosis congenita, autosomal dominant 2 Aplastic anemia Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Condition: not provided Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184667	rs_765264494	5 SubmittersRCV000503916 RCV001151517 RCV001151518 RCV001154529 RCV002518373 RCV003437032 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 Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Conflicting Classifications	CA3184671	rs_151055240	13 SubmittersRCV000250893 RCV000273101 RCV000302865 RCV000357715 RCV001529280 RCV004558593 RCV002518372
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 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 TERT-related disorder Melanoma, cutaneous malignant, susceptibility to, 9	Criteria Provided Conflicting Classifications	CA3184691	rs_758494245	7 SubmittersRCV000987500 RCV001155364 RCV001155365 RCV001155363 RCV002255340 RCV002518370 RCV004532972 RCV005235200
NM_198253.3(TERT):c.1936C>T (p.Arg646Cys)	SNV Germline	Chr5:1280172	Conflicting classifications of pathogenicity	not specified Condition: not provided Dyskeratosis congenita TERT-related disorder Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications	CA3184723	rs_147521473	8 SubmittersRCV001820780 RCV001775705 RCV002256176 RCV004734890 RCV002518369 RCV003469172
NM_198253.3(TERT):c.1336C>A (p.Arg446Ser)	SNV Germline	Chr5:1293550	Conflicting classifications of pathogenicity	Condition: not provided Dyskeratosis congenita Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis not specified TERT-related disorder	Criteria Provided Conflicting Classifications	CA3184855	rs_567650961	8 SubmittersRCV001356732 RCV002255339 RCV002518367 RCV003151000 RCV004532971
NM_198253.3(TERT):c.1331A>G (p.Asp444Gly)	SNV Germline	Chr5:1293555	Conflicting classifications of pathogenicity	Acute myeloid leukemia Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita Condition: not provided	Criteria Provided Conflicting Classifications	CA10582362	rs_878855299	4 SubmittersRCV001292603 RCV002518366 RCV004558590 RCV003325475
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 Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Malignant tumor of urinary bladder Neoplasm Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA10582367	rs_878855297	9 SubmittersRCV000034312 RCV001820777 RCV002519807 RCV003475834 RCV003332157 RCV004668870 RCV004822022
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 Cerebroretinal microangiopathy with calcifications and cysts 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA8372049	rs_200643329	8 SubmittersRCV000231025 RCV000501561 RCV001807147 RCV001573147
NM_198253.3(TERT):c.1849C>T (p.Leu617=)	SNV Germline	Chr5:1280259	Conflicting classifications of pathogenicity	not specified 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 Condition: not provided Acute myeloid leukemia Dyskeratosis congenita Melanoma, cutaneous malignant, susceptibility to, 9	Criteria Provided Conflicting Classifications	CA3184742	rs_140951453	8 SubmittersRCV000244189 RCV000287182 RCV000372475 RCV000336462 RCV002518668 RCV001580477 RCV003316456 RCV004558609 RCV005235242
NM_198253.3(TERT):c.1769+16G>A	SNV Germline	Chr5:1282413	Conflicting classifications of pathogenicity	not specified Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis 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 Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	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 Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis 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 Hepatocellular carcinoma 7 conditions not specified Condition: not provided Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184895	rs_778187343	7 SubmittersRCV000283392 RCV000322037 RCV000378796 RCV000503276 RCV000765804 RCV001820800 RCV002305476 RCV002518795 RCV004822030
NM_198253.3(TERT):c.150G>A (p.Leu50=)	SNV Germline	Chr5:1294840	Conflicting classifications of pathogenicity	Condition: not provided 7 conditions Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 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 Aplastic anemia Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Dyskeratosis congenita Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Conflicting Classifications	CA3184396	rs_370292237	3 SubmittersRCV000285766 RCV000376627 RCV000343040 RCV004558620 RCV002520298
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 Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	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 Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Condition: not provided TERT-related disorder Dyskeratosis congenita Intellectual disability	Criteria Provided Conflicting Classifications	CA3185020	rs_573817924	9 SubmittersRCV000266345 RCV000324023 RCV000357781 RCV000613962 RCV002520305 RCV001528455 RCV004544655 RCV004559045 RCV005625560
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 Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis 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	Condition: not provided Dyskeratosis congenita NHP2-related disorder not specified Dyskeratosis congenita, autosomal recessive 2	Criteria Provided Conflicting Classifications	CA3589267	rs_376220034	6 SubmittersRCV001702437 RCV000469686 RCV003972482 RCV001821077 RCV005230272
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 Condition: not provided Aplastic anemia not specified Dyskeratosis congenita Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Conflicting Classifications	CA3184275	rs_373400596	7 SubmittersRCV000309581 RCV000344253 RCV002509370 RCV000398654 RCV001815383 RCV002255372 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 Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis 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 not specified Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Condition: not provided	Criteria Provided Conflicting Classifications	CA3184933	rs_35837567	5 SubmittersRCV000312452 RCV000355603 RCV000403911 RCV004558621 RCV005434861 RCV002520303 RCV004721340
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 Idiopathic Pulmonary Fibrosis Condition: not provided TERT-related disorder Dyskeratosis congenita, autosomal dominant 2 not specified Dyskeratosis congenita Acute myeloid leukemia	Criteria Provided Conflicting Classifications	CA3184953	rs_11952056	9 SubmittersRCV000296917 RCV000354116 RCV002520304 RCV003137968 RCV004530415 RCV000404356 RCV001821075 RCV002257653 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	4 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 not specified	Criteria Provided Conflicting Classifications	CA7130763	rs_367835995	5 SubmittersRCV000293979 RCV000346506 RCV001042861 RCV003235188 RCV005230243
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	Cerebroretinal microangiopathy with calcifications and cysts 1 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA8372081	rs_200759730	3 SubmittersRCV001807221 RCV001062476
NM_025099.6(CTC1):c.1728G>A (p.Pro576=)	SNV Germline	Chr17:8234545	Conflicting classifications of pathogenicity	not specified Dyskeratosis congenita Condition: not provided CTC1-related disorder Cerebroretinal microangiopathy with calcifications and cysts 1	Criteria Provided Conflicting Classifications	CA8372269	rs_78320653	8 SubmittersRCV000503687 RCV000634522 RCV001753785 RCV003912360 RCV001807228
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	6 SubmittersRCV000544541 RCV003418031 RCV001807227
NM_025099.6(CTC1):c.663T>C (p.Gly221=)	SNV Germline	Chr17:8237504	Conflicting classifications of pathogenicity	Cerebroretinal microangiopathy with calcifications and cysts 1 Dyskeratosis congenita Condition: not provided CTC1-related disorder	Criteria Provided Conflicting Classifications	CA8372572	rs_138725914	5 SubmittersRCV001807231 RCV000634512 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 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA8355249	rs_138784430	3 SubmittersRCV000303391 RCV001445333 RCV004822034
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	not specified Cerebroretinal microangiopathy with calcifications and cysts 1 Condition: not provided Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA8371952	rs_373530008	6 SubmittersRCV001820982 RCV001807219 RCV005243198 RCV000861919
NM_025099.6(CTC1):c.1819-14T>G	SNV Germline	Chr17:8233046	Conflicting classifications of pathogenicity	Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA8372248	rs_753627056	2 SubmittersRCV000279773
NM_025099.6(CTC1):c.615C>T (p.Tyr205=)	SNV Germline	Chr17:8238063	Conflicting classifications of pathogenicity	Cerebroretinal microangiopathy with calcifications and cysts 1 Condition: not provided CTC1-related disorder not specified Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA8372600	rs_571035242	6 SubmittersRCV001807232 RCV003418032 RCV003950112 RCV000500419 RCV000863925
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 Congenital cerebellar hypoplasia Dyskeratosis congenita, X-linked Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA16608850	rs_1057520719	5 SubmittersRCV000442656 RCV001257984 RCV000779660 RCV003530047
NM_198253.3(TERT):c.2141C>T (p.Thr714Met)	SNV Germline	Chr5:1278786	Conflicting classifications of pathogenicity	Condition: not provided 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	CA3184642	rs_772441504	5 SubmittersRCV003233642 RCV003150818 RCV003150819 RCV002525587 RCV004559084
NM_198253.3(TERT):c.2011C>T (p.Arg671Trp)	SNV Germline	Chr5:1279410	Likely pathogenic	Pulmonary fibrosis Autosomal recessive dyskeratosis congenita 4 Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Condition: not provided Hoyeraal-Hreidarsson syndrome Autosomal recessive dyskeratosis congenita 4 Telomere syndrome Dyskeratosis congenita	Criteria Provided Multiple Submitters No Conflicts	CA16611699	rs_1060503011	8 SubmittersRCV002509394 RCV002264699 RCV002523341 RCV001508166 RCV001753903 RCV003325407 RCV004559086
NM_198253.3(TERT):c.3164C>T (p.Ser1055Leu)	SNV Germline	Chr5:1254499	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Condition: not provided Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184255	rs_201330213	4 SubmittersRCV002525586 RCV003470475 RCV001753902 RCV005286091
NM_198253.3(TERT):c.1931C>T (p.Thr644Met)	SNV Germline	Chr5:1280177	Conflicting classifications of pathogenicity	Dyskeratosis congenita Chronic obstructive pulmonary disease Chronic diarrhea Decreased circulating immunoglobulin concentration 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	7 SubmittersRCV004822060 RCV002244939 RCV002307507 RCV002506127 RCV002526430 RCV004539953 RCV003463952
NM_198253.3(TERT):c.403G>A (p.Gly135Arg)	SNV Germline	Chr5:1294483	Conflicting classifications of pathogenicity	not specified Condition: not provided Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Conflicting Classifications	CA3184986	rs_200843534	7 SubmittersRCV001821284 RCV003318581 RCV001331997 RCV005286090 RCV002523330
NM_198253.3(TERT):c.2465G>A (p.Gly822Asp)	SNV Germline	Chr5:1271122	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184512	rs_757820442	3 SubmittersRCV004568061 RCV002523340 RCV005286096
NM_198253.3(TERT):c.2130+10G>A	SNV Germline	Chr5:1279281	Conflicting classifications of pathogenicity	not specified Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Dyskeratosis congenita, autosomal dominant 2 Aplastic anemia Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Condition: not provided TERT-related disorder Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184663	rs_373879259	6 SubmittersRCV000502349 RCV001151516 RCV001151514 RCV001151515 RCV002526490 RCV001536535 RCV004541500 RCV004559102
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 Dyskeratosis congenita Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis not specified Condition: not provided TERT-related disorder	Criteria Provided Conflicting Classifications	CA3184695	rs_778496417	7 SubmittersRCV001157052 RCV001157053 RCV001157054 RCV002257755 RCV002525684 RCV001821371 RCV003431033 RCV004541497
NM_198253.3(TERT):c.673G>C (p.Gly225Arg)	SNV Germline	Chr5:1294213	Conflicting classifications of pathogenicity	Dyskeratosis congenita Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Conflicting Classifications	CA16611921	rs_1060502999	2 SubmittersRCV004559076 RCV003103781
NM_001099274.3(TINF2):c.1166T>C (p.Ile389Thr)	SNV Germline	Chr14:24240119	Conflicting classifications of pathogenicity	Dyskeratosis congenita not specified TINF2-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA7130468	rs_192423622	5 SubmittersRCV000465078 RCV001821320 RCV003970312 RCV004721382
NM_025099.6(CTC1):c.1720C>T (p.Pro574Ser)	SNV Germline	Chr17:8234553	Conflicting classifications of pathogenicity	Dyskeratosis congenita not specified Cerebroretinal microangiopathy with calcifications and cysts 1 Condition: not provided CTC1-related disorder	Criteria Provided Conflicting Classifications	CA8372273	rs_200440641	8 SubmittersRCV000469334 RCV000500603 RCV001807256 RCV001551204 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_001099274.3(TINF2):c.796C>T (p.Arg266Ter)	SNV Germline	Chr14:24240684	Conflicting classifications of pathogenicity	Condition: not provided Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA16619855	rs_1064795632	2 SubmittersRCV000481021 RCV005090958
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_001566.3(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_001566.3(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 TERT-related disorder Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications	CA359076368	rs_1554040129	4 SubmittersRCV000500578 RCV004535624 RCV003766854 RCV005245499
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.2227C>T (p.Arg743Trp)	SNV Germline	Chr5:1278700	Conflicting classifications of pathogenicity	not specified Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Condition: not provided Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications	CA359079200	rs_1388515349	5 SubmittersRCV000503102 RCV002527300 RCV001508163 RCV005245500
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 Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Conflicting Classifications	CA3184839	rs_746216837	3 SubmittersRCV000502511 RCV004822081 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 Inborn genetic diseases Dyskeratosis congenita, autosomal dominant 6 Condition: not provided ACD-related disorder	Criteria Provided Conflicting Classifications	CA8114847	rs_149365469	10 SubmittersRCV000503600 RCV003243155 RCV000694462 RCV001702497 RCV003962366
NM_025099.6(CTC1):c.3605G>A (p.Arg1202Gln)	SNV Germline	Chr17:8228229	Conflicting classifications of pathogenicity	not specified Cerebroretinal microangiopathy with calcifications and cysts 1 Dyskeratosis congenita Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8371698	rs_778830884	4 SubmittersRCV000500962 RCV001807274 RCV000818931 RCV004023367
NM_025099.6(CTC1):c.3222-4A>G	SNV Germline	Chr17:8228896	Conflicting classifications of pathogenicity	not specified Dyskeratosis congenita Cerebroretinal microangiopathy with calcifications and cysts 1 CTC1-related disorder	Criteria Provided Conflicting Classifications	CA8371823	rs_562479062	4 SubmittersRCV000502629 RCV000869171 RCV001807272 RCV003900040
NM_025099.6(CTC1):c.363G>A (p.Ser121=)	SNV Germline	Chr17:8238464	Conflicting classifications of pathogenicity	not specified Cerebroretinal microangiopathy with calcifications and cysts 1 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA8372648	rs_770555372	3 SubmittersRCV000502493 RCV001807271 RCV001415273
NM_025099.6(CTC1):c.147C>T (p.Val49=)	SNV Germline	Chr17:8243035	Conflicting classifications of pathogenicity	not specified Cerebroretinal microangiopathy with calcifications and cysts 1 Dyskeratosis congenita Condition: not provided CTC1-related disorder	Criteria Provided Conflicting Classifications	CA8372704	rs_201492796	10 SubmittersRCV000504067 RCV001807273 RCV000530550 RCV001531253 RCV003960159
NM_025099.6(CTC1):c.13C>T (p.Arg5Trp)	SNV Germline	Chr17:8248024	Conflicting classifications of pathogenicity	not specified Cerebroretinal microangiopathy with calcifications and cysts 1 Dyskeratosis congenita Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8372764	rs_201280372	6 SubmittersRCV000501146 RCV001172451 RCV000634521 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 and/or bone marrow failure, Telomere-related, 3 Dyskeratosis congenita, autosomal recessive 5 Pulmonary fibrosis	Criteria Provided Multiple Submitters No Conflicts	CA409674081	rs_1555903332	4 SubmittersRCV000503881 RCV001172446 RCV003766850 RCV002509415
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 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Dyskeratosis congenita, autosomal recessive 5 Dyskeratosis congenita, autosomal recessive 5 Condition: not provided Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA9965429	rs_144002969	8 SubmittersRCV000501006 RCV000695080 RCV000673277 RCV004691811 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	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Dyskeratosis congenita, autosomal recessive 5 Inborn genetic diseases RTEL1-related disorder not specified Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA9965693	rs_373210484	8 SubmittersRCV000765496 RCV002446980 RCV004535619 RCV000503523 RCV001272192
NM_001283009.2(RTEL1):c.3381C>T (p.Arg1127=)	SNV Germline	Chr20:63695103	Conflicting classifications of pathogenicity	not specified Dyskeratosis congenita, autosomal recessive 5 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 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	CA3184569	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 not specified Condition: not provided Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 TERT-related disorder Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184587	rs_561426406	9 SubmittersRCV000677347 RCV000765795 RCV001821447 RCV001755759 RCV002525004 RCV003476211 RCV004535664 RCV004822082
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 Condition: not provided Dyskeratosis congenita Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Conflicting Classifications	CA3184681	rs_776981958	4 SubmittersRCV000677345 RCV001508165 RCV004701581 RCV005208586
NM_001363.5(DKC1):c.203A>G (p.His68Arg)	SNV Unknown	ChrX:154765938	Pathogenic	Dyskeratosis congenita, X-linked	Criteria Provided Single Submitter	CA414889375	rs_1557264102	1 SubmittersRCV000677353
NR_001566.3(TERC):n.319G>A	SNV Germline	Chr3:169764742	Likely pathogenic	Condition: not provided Dyskeratosis congenita, autosomal dominant 1	Criteria Provided Multiple Submitters No Conflicts	CA436715060	rs_1553915590	2 SubmittersRCV000521266 RCV005252940
NC_000003.12:g.169764933T>C	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_025099.6(CTC1):c.3532C>T (p.Arg1178Ter)	SNV Germline	Chr17:8228302	Conflicting classifications of pathogenicity	Condition: not provided Dyskeratosis congenita Cerebroretinal microangiopathy with calcifications and cysts 1	Criteria Provided Conflicting Classifications	CA8371718	rs_200919310	4 SubmittersRCV000520835 RCV001204312 RCV001807291
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	Aplastic anemia Dyskeratosis congenita, autosomal dominant 2 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Melanoma, cutaneous malignant, susceptibility to, 9 Condition: not provided Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184461	rs_751752830	5 SubmittersRCV001153600 RCV001153601 RCV001153599 RCV005235408 RCV005243285 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.550G>A (p.Ala184Thr)	SNV Germline	Chr5:1294336	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Condition: not provided Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184960	rs_773758089	4 SubmittersRCV002530169 RCV003105956 RCV005278599
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 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184610	rs_768062052	3 SubmittersRCV002530135 RCV004543198 RCV005502837
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 Dyskeratosis congenita Condition: not provided TERT-related disorder	Criteria Provided Conflicting Classifications	CA3184631	rs_753929279	4 SubmittersRCV002530130 RCV004559189 RCV003228951 RCV004538046
NM_198253.3(TERT):c.1951-5G>A	SNV Germline	Chr5:1279475	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184701	rs_770214413	2 SubmittersRCV002530113 RCV005502834
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	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Condition: not provided Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184746	rs_776763536	3 SubmittersRCV002530109 RCV003431098 RCV004559181
NM_198253.3(TERT):c.779G>A (p.Gly260Asp)	SNV Germline	Chr5:1294107	Conflicting classifications of pathogenicity	Dyskeratosis congenita Aplastic anemia TERT-related disorder Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Melanoma, cutaneous malignant, susceptibility to, 9 Acute myeloid leukemia Dyskeratosis congenita, autosomal dominant 2 Condition: not provided Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications	CA3184914	rs_148798048	8 SubmittersRCV002255455 RCV003333079 RCV004735620 RCV005034105 RCV002260647 RCV002530175
NM_198253.3(TERT):c.193C>G (p.Pro65Ala)	SNV Germline	Chr5:1294797	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Condition: not provided Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3185021	rs_544215765	7 SubmittersRCV001254604 RCV002530117 RCV003236816 RCV002256385
NM_198253.3(TERT):c.2885G>A (p.Arg962His)	SNV Germline	Chr5:1260559	Conflicting classifications of pathogenicity	Dyskeratosis congenita Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications	CA3184350	rs_759490631	3 SubmittersRCV004559205 RCV003230269 RCV002530154
NM_198253.3(TERT):c.2702G>A (p.Arg901Gln)	SNV Germline	Chr5:1264545	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Melanoma, cutaneous malignant, susceptibility to, 9 Acute myeloid leukemia Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184413	rs_772974254	3 SubmittersRCV002530149 RCV005034103 RCV005278597
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 Condition: not provided	Criteria Provided Conflicting Classifications	CA112938010	rs_532158398	3 SubmittersRCV002530148 RCV004559201 RCV004772985
NM_198253.3(TERT):c.2221G>A (p.Val741Met)	SNV Germline	Chr5:1278706	Conflicting classifications of pathogenicity	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Melanoma, cutaneous malignant, susceptibility to, 9 Acute myeloid leukemia Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita, autosomal dominant 2 Condition: not provided Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184622	rs_150819225	6 SubmittersRCV000768106 RCV002530132 RCV003470765 RCV001559069 RCV004559190
NM_198253.3(TERT):c.1957C>T (p.Arg653Cys)	SNV Germline	Chr5:1279464	Conflicting classifications of pathogenicity	Dyskeratosis congenita Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications	CA3184698	rs_372272356	3 SubmittersRCV005502835 RCV002530120 RCV003470764
NM_198253.3(TERT):c.1914C>T (p.Tyr638=)	SNV Germline	Chr5:1280194	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184734	rs_541931572	2 SubmittersRCV003103807 RCV005286129
NM_198253.3(TERT):c.3302C>T (p.Thr1101Met)	SNV Germline	Chr5:1253825	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita Condition: not provided	Criteria Provided Conflicting Classifications	CA3184216	rs_764602705	5 SubmittersRCV002530163 RCV002256386 RCV002307542
NM_198253.3(TERT):c.2744G>A (p.Gly915Asp)	SNV Germline	Chr5:1264503	Conflicting classifications of pathogenicity	TERT-related disorder Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Melanoma, cutaneous malignant, susceptibility to, 9 Acute myeloid leukemia Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184405	rs_202033269	5 SubmittersRCV004543199 RCV001788284 RCV002530150 RCV005034104 RCV005278598
NM_198253.3(TERT):c.2652C>T (p.Leu884=)	SNV Germline	Chr5:1266466	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Condition: not provided Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184439	rs_374309472	3 SubmittersRCV002530147 RCV001770465 RCV004559200
NM_198253.3(TERT):c.1269C>T (p.Ala423=)	SNV Germline	Chr5:1293617	Conflicting classifications of pathogenicity	Aplastic anemia not specified 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 Condition: not provided	Criteria Provided Conflicting Classifications	CA3184862	rs_190411812	5 SubmittersRCV001155486 RCV001821573 RCV001155485 RCV001155487 RCV002530096 RCV004559172 RCV003992323
NM_198253.3(TERT):c.838G>A (p.Glu280Lys)	SNV Germline	Chr5:1294048	Conflicting classifications of pathogenicity	Interstitial lung disease 2 not specified Condition: not provided Dyskeratosis congenita Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Acute myeloid leukemia Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Melanoma, cutaneous malignant, susceptibility to, 9	Criteria Provided Conflicting Classifications	CA3184904	rs_199701877	10 SubmittersRCV000987502 RCV001821580 RCV001576510 RCV002255456 RCV002530177 RCV003316717 RCV004760588 RCV005235410
NM_198253.3(TERT):c.645C>T (p.Gly215=)	SNV Germline	Chr5:1294241	Conflicting classifications of pathogenicity	Aplastic anemia not specified Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Dyskeratosis congenita, autosomal dominant 2 Condition: not provided Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184937	rs_768426236	7 SubmittersRCV001157267 RCV001821579 RCV001157266 RCV001157268 RCV001529708 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 Inborn genetic diseases not specified Cerebroretinal microangiopathy with calcifications and cysts 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA8372315	rs_199698527	5 SubmittersRCV000538568 RCV002527700 RCV001821518 RCV001839012 RCV005054216
NM_025099.6(CTC1):c.597G>A (p.Thr199=)	SNV Germline	Chr17:8238081	Conflicting classifications of pathogenicity	Dyskeratosis congenita Cerebroretinal microangiopathy with calcifications and cysts 1 not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA8372602	rs_373023392	6 SubmittersRCV000541269 RCV001807296 RCV001821520 RCV003419929
NM_025099.6(CTC1):c.34-9T>G	SNV Germline	Chr17:8243157	Conflicting classifications of pathogenicity	Dyskeratosis congenita Condition: not provided Cerebroretinal microangiopathy with calcifications and cysts 1	Criteria Provided Conflicting Classifications	CA8372726	rs_201195157	5 SubmittersRCV000547685 RCV001569942 RCV001172447
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 Condition: not provided	Criteria Provided Conflicting Classifications	CA8372213	rs_775779700	5 SubmittersRCV000533572 RCV000764155 RCV004791527
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	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 Dyskeratosis congenita, autosomal recessive 5 Inborn genetic diseases Dyskeratosis congenita Condition: not provided	Criteria Provided Conflicting Classifications	CA9964547	rs_113684274	9 SubmittersRCV000536702 RCV001007595 RCV000990339 RCV002404541 RCV001829595 RCV003480684
NM_001363.5(DKC1):c.20T>C (p.Ile7Thr)	SNV Germline	ChrX:154764902	Conflicting classifications of pathogenicity	Condition: not provided Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA10566951	rs_782343800	2 SubmittersRCV000733974 RCV001078718
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 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA3184345	rs_765566930	6 SubmittersRCV000604673 RCV000855405 RCV002529360 RCV005409684
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 TERT-related disorder Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184291	rs_377419542	3 SubmittersRCV002533393 RCV004533396 RCV004559292
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 Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Conflicting Classifications	CA359074714	rs_1554039733	3 SubmittersRCV001156212 RCV001156210 RCV001156211 RCV004559304 RCV002533405
NM_198253.3(TERT):c.2005C>T (p.Arg669Trp)	SNV Germline	Chr5:1279416	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Melanoma, cutaneous malignant, susceptibility to, 9 Acute myeloid leukemia Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184690	rs_372140951	3 SubmittersRCV002530510 RCV005034217 RCV005286159
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 7 conditions Dyskeratosis congenita, autosomal dominant 2 Condition: not provided Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA359080888	rs_1228165704	5 SubmittersRCV002533379 RCV002485456 RCV003472038 RCV003153788 RCV004559285
NM_198253.3(TERT):c.1917C>T (p.Val639=)	SNV Germline	Chr5:1280191	Conflicting classifications of pathogenicity	not specified Dyskeratosis congenita Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis TERT-related disorder	Criteria Provided Conflicting Classifications	CA3184731	rs_142989562	4 SubmittersRCV001816615 RCV005502867 RCV002533407 RCV004544887
NM_198253.3(TERT):c.2884C>T (p.Arg962Cys)	SNV Germline	Chr5:1260560	Conflicting classifications of pathogenicity	Dyskeratosis congenita Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Condition: not provided Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications	CA3184351	rs_144697790	4 SubmittersRCV005286161 RCV002533382 RCV003228970 RCV004568447
NM_198253.3(TERT):c.2383-5C>T	SNV Germline	Chr5:1271209	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184528	rs_373488315	2 SubmittersRCV002531929 RCV005286164
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	4 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 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184415	rs_559028617	3 SubmittersRCV002533383 RCV004533394 RCV005502866
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 Dyskeratosis congenita, autosomal dominant 2 TERT-related disorder Condition: not provided Dyskeratosis congenita Dyskeratosis congenita, autosomal dominant 2 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Melanoma, cutaneous malignant, susceptibility to, 9 Acute myeloid leukemia	Criteria Provided Conflicting Classifications	CA3184463	rs_144779807	7 SubmittersRCV002533386 RCV004568449 RCV004544885 RCV004702245 RCV004822145 RCV005034218
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 TERT-related disorder Condition: not provided Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184848	rs_758110675	5 SubmittersRCV000765803 RCV002533376 RCV004544884 RCV003236829 RCV005502865
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	8 SubmittersRCV001293960 RCV002307574 RCV002477438 RCV002533384 RCV004533395 RCV004559287
NM_198253.3(TERT):c.751G>A (p.Val251Ile)	SNV Germline	Chr5:1294135	Conflicting classifications of pathogenicity	Condition: not provided Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184920	rs_776569822	3 SubmittersRCV003328616 RCV003103822 RCV005286163
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 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184954	rs_781435225	5 SubmittersRCV001334733 RCV002533389 RCV003325507 RCV005492857
NM_002582.4(PARN):c.1843A>G (p.Lys615Glu)	SNV Germline	Chr16:14446909	Conflicting classifications of pathogenicity	Condition: not provided Dyskeratosis congenita, autosomal recessive 6 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 PARN-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7911921	rs_368440052	4 SubmittersRCV001756104 RCV000653142 RCV004547823 RCV004957966
NM_001082486.2(ACD):c.613A>G (p.Thr205Ala)	SNV Germline	Chr16:67658960	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 6 not specified ACD-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA8114609	rs_139438549	6 SubmittersRCV000652840 RCV001816641 RCV003953202 RCV003237977
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	Dyskeratosis congenita Cerebroretinal microangiopathy with calcifications and cysts 1	Criteria Provided Multiple Submitters No Conflicts	CA8371986	rs_200609323	3 SubmittersRCV000634497 RCV000763024
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 Condition: not provided	Criteria Provided Conflicting Classifications	CA8372697	rs_764616648	5 SubmittersRCV000634507 RCV001807312 RCV004808812
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 Cerebroretinal microangiopathy with calcifications and cysts 1	Criteria Provided Conflicting Classifications	CA8372209	rs_534923467	3 SubmittersRCV000634504 RCV004025447 RCV005027748
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 RTEL1-related disorder Condition: not provided Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA9965365	rs_150461578	8 SubmittersRCV000651133 RCV004533410 RCV001092639 RCV002257910
NM_001283009.2(RTEL1):c.535G>T (p.Glu179Ter)	SNV Germline	Chr20:63662886	Pathogenic	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Dyskeratosis congenita, autosomal recessive 5	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	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Dyskeratosis congenita, autosomal recessive 5 Dyskeratosis congenita Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA9965497	rs_141717966	4 SubmittersRCV000651138 RCV002257911 RCV003327441 RCV003151123
NM_001283009.2(RTEL1):c.959T>C (p.Met320Thr)	SNV Germline	Chr20:63678268	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal recessive 5 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Dyskeratosis congenita Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA9964545	rs_143550996	6 SubmittersRCV000651112 RCV001276035 RCV001564499 RCV003151119
NM_198253.3(TERT):c.1843G>A (p.Ala615Thr)	SNV Germline	Chr5:1280265	Conflicting classifications of pathogenicity	Condition: not provided not specified Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA112950366	rs_112614087	5 SubmittersRCV000659010 RCV001816660 RCV002534308 RCV005492861
NM_001283009.2(RTEL1):c.1037+1G>T	SNV Germline	Chr20:63678347	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	CA317500289	rs_895722334	4 SubmittersRCV000669234 RCV005034251
NM_001283009.2(RTEL1):c.2851+1G>T	SNV Unknown	Chr20:63693004	Likely pathogenic	Dyskeratosis congenita, autosomal recessive 5	Criteria Provided Single Submitter	CA409683158	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	CA409683257	rs_1470145133	6 SubmittersRCV000669062 RCV001217029 RCV003323669 RCV004535683
NM_001283009.2(RTEL1):c.396-74A>C	SNV Unknown	Chr20:63662472	Likely pathogenic	Dyskeratosis congenita, autosomal recessive 5	Criteria Provided Single Submitter	CA409669176	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 Single Submitter	CA409676952	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	No Assertion Criteria Provided	CA409670040	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	CA317518604	rs_961593162	5 SubmittersRCV000669629 RCV000763060 RCV004535684
NM_001283009.2(RTEL1):c.2881A>T (p.Lys961Ter)	SNV Germline	Chr20:63693172	Pathogenic	Dyskeratosis congenita, autosomal recessive 5 Dyskeratosis congenita, autosomal recessive 5 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3	Criteria Provided Single Submitter	CA409683229	rs_1555813144	2 SubmittersRCV000666445 RCV003767949
NM_001283009.2(RTEL1):c.3130C>T (p.Gln1044Ter)	SNV Germline	Chr20:63694761	Pathogenic	Dyskeratosis congenita, autosomal recessive 5 Abnormality of blood and blood-forming tissues	Criteria Provided Single Submitter	CA409684807	rs_1415449695	2 SubmittersRCV000667410 RCV001814212
NM_001283009.2(RTEL1):c.3344-2A>G	SNV Unknown	Chr20:63695064	Likely pathogenic	Dyskeratosis congenita, autosomal recessive 5	No Assertion Criteria Provided	CA317528960	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 Single Submitter	CA409685309	rs_778734749	2 SubmittersRCV000672496
NM_001283009.2(RTEL1):c.630C>A (p.Tyr210Ter)	SNV Unknown	Chr20:63667484	Likely pathogenic	Dyskeratosis congenita, autosomal recessive 5	No Assertion Criteria Provided	CA409670647	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 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Dyskeratosis congenita, autosomal recessive 5	Criteria Provided Multiple Submitters No Conflicts	CA9964386	rs_780546933	5 SubmittersRCV000674750 RCV001855614
NM_001283009.2(RTEL1):c.2260C>T (p.Arg754Ter)	SNV Germline	Chr20:63690205	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	CA409680018	rs_377024903	3 SubmittersRCV000667829 RCV001384643
NM_001283009.2(RTEL1):c.2265+2T>A	SNV Unknown	Chr20:63690212	Likely pathogenic	Dyskeratosis congenita, autosomal recessive 5	No Assertion Criteria Provided	CA409680039	rs_1555811966	1 SubmittersRCV000671417
NM_001283009.2(RTEL1):c.2414-2A>G	SNV Unknown	Chr20:63690803	Likely pathogenic	Dyskeratosis congenita, autosomal recessive 5	No Assertion Criteria Provided	CA409681337	rs_1555812178	1 SubmittersRCV000672386
NM_001283009.2(RTEL1):c.2653-2A>C	SNV Unknown	Chr20:63692803	Likely pathogenic	Dyskeratosis congenita, autosomal recessive 5	No Assertion Criteria Provided	CA409682765	rs_1555812834	1 SubmittersRCV000674721
NM_001283009.2(RTEL1):c.3110-2A>C	SNV Germline	Chr20:63694739	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	CA9965874	rs_377461417	6 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	CA317527988	rs_377461417	4 SubmittersRCV000667028 RCV001210219 RCV001829840
NM_001283009.2(RTEL1):c.3559C>T (p.Gln1187Ter)	SNV Germline	Chr20:63695387	Pathogenic/Likely pathogenic	Interstitial lung disease 2 Condition: not provided Dyskeratosis congenita, autosomal recessive 5 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3	Criteria Provided Multiple Submitters No Conflicts	CA409685710	rs_776525427	3 SubmittersRCV000677222 RCV005223117 RCV005034283
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	CA359085573	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	CA3184929	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 Dyskeratosis congenita Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Conflicting Classifications	CA3184959	rs_770436206	3 SubmittersRCV003388593 RCV004559353 RCV002544769
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	CA359058906	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	CA3589279	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	CA359073326	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 not specified	Criteria Provided Conflicting Classifications	CA3184519	rs_552708120	3 SubmittersRCV002533539 RCV003222108 RCV004586888
NM_198253.3(TERT):c.2012G>A (p.Arg671Gln)	SNV Germline	Chr5:1279409	Conflicting classifications of pathogenicity	Dyskeratosis congenita Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Melanoma, cutaneous malignant, susceptibility to, 9 Acute myeloid leukemia	Criteria Provided Conflicting Classifications	CA3184687	rs_774381540	3 SubmittersRCV005278643 RCV002533651 RCV005046959
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	CA3184880	rs_773366454	2 SubmittersRCV002547117 RCV004559356
NM_198253.3(TERT):c.577C>A (p.Pro193Thr)	SNV Germline	Chr5:1294309	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA359057366	rs_1271112115	2 SubmittersRCV002534408 RCV004822183
NM_198253.3(TERT):c.3116C>T (p.Thr1039Met)	SNV Germline	Chr5:1255328	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184282	rs_763381198	3 SubmittersRCV002531489 RCV002256472
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 Condition: not provided Dyskeratosis congenita, autosomal dominant 2 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Melanoma, cutaneous malignant, susceptibility to, 9 Acute myeloid leukemia	Criteria Provided Conflicting Classifications	CA3184615	rs_576633619	6 SubmittersRCV001151511 RCV001151512 RCV001151513 RCV001816702 RCV002547120 RCV004777822 RCV005034294
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	CA112915226	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	CA7912411	rs_200103366	5 SubmittersRCV000689559 RCV001816705 RCV001335956 RCV003420224
NM_025099.6(CTC1):c.3049C>T (p.Gln1017Ter)	SNV Germline	Chr17:8229409	Pathogenic	Dyskeratosis congenita	Criteria Provided Single Submitter	CA397972329	rs_1567599296	1 SubmittersRCV000699292
NM_025099.6(CTC1):c.1186C>T (p.Arg396Ter)	SNV Germline	Chr17:8235851	Pathogenic/Likely pathogenic	Dyskeratosis congenita Cerebroretinal microangiopathy with calcifications and cysts 1	Criteria Provided Multiple Submitters No Conflicts	CA8372440	rs_764019241	2 SubmittersRCV000699564 RCV005021087
NM_001363.5(DKC1):c.149C>A (p.Ser50Tyr)	SNV Germline	ChrX:154765508	Likely pathogenic	Dyskeratosis congenita	Criteria Provided Single Submitter	CA414888963	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	CA10567056	rs_374771308	2 SubmittersRCV000687325
NM_025099.6(CTC1):c.277C>T (p.Gln93Ter)	SNV Germline	Chr17:8238550	Pathogenic	Dyskeratosis congenita	Criteria Provided Single Submitter	CA8372660	rs_767991627	1 SubmittersRCV000704293
NM_001283009.2(RTEL1):c.3463G>A (p.Val1155Met)	SNV Germline	Chr20:63695185	Conflicting classifications of pathogenicity	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Dyskeratosis congenita, autosomal recessive 5 Dyskeratosis congenita, autosomal recessive 5 Condition: not provided Dyskeratosis congenita Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9966041	rs_149145821	6 SubmittersRCV000706027 RCV001333380 RCV001766561 RCV001825396 RCV002534452
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	CA10567280	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 Cerebroretinal microangiopathy with calcifications and cysts 1 not specified Dyskeratosis congenita Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8371699	rs_147714487	11 SubmittersRCV000732314 RCV001330034 RCV001816802 RCV001081646 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	CA427568950	rs_1306444586	1 SubmittersRCV000761361
NM_001283009.2(RTEL1):c.732G>A (p.Gly244=)	SNV Germline	Chr20:63672588	Conflicting classifications of pathogenicity	Inborn genetic diseases Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Dyskeratosis congenita, autosomal recessive 5	Criteria Provided Conflicting Classifications	CA511371586	rs_919917378	3 SubmittersRCV005268744 RCV000768303
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	CA636615267	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	CA8371947	rs_199473678	8 SubmittersRCV000778131 RCV001560718 RCV001869130
NM_198253.3(TERT):c.2839T>C (p.Ser947Pro)	SNV Germline	Chr5:1264408	Pathogenic	Dyskeratosis congenita	No Assertion Criteria Provided	CA359071372	rs_915854031	1 SubmittersRCV000786862
NM_001283009.2(RTEL1):c.3075C>T (p.Gly1025=)	SNV Germline	Chr20:63694454	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 not specified	Criteria Provided Conflicting Classifications	CA9965823	rs_766455566	7 SubmittersRCV000788886 RCV001057104 RCV001273630 RCV004538085 RCV005240570
NM_022836.4(DCLRE1B):c.946G>A (p.Val316Met)	SNV Germline	Chr1:113911538	Conflicting classifications of pathogenicity	Autosomal recessive dyskeratosis congenita Hoyeraal-Hreidarsson syndrome not specified	Criteria Provided Conflicting Classifications	CA1016498	rs_749431578	2 SubmittersRCV000798393 RCV005318528
NM_198253.3(TERT):c.3346G>A (p.Glu1116Lys)	SNV Germline	Chr5:1253781	Conflicting classifications of pathogenicity	Dyskeratosis congenita Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis TERT-related disorder	Criteria Provided Conflicting Classifications	CA359066706	rs_1196160200	3 SubmittersRCV004559670 RCV002534659 RCV004540104
NM_198253.3(TERT):c.3323C>T (p.Pro1108Leu)	SNV Germline	Chr5:1253804	Conflicting classifications of pathogenicity	Aplastic anemia Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA3184213	rs_376255453	4 SubmittersRCV001152717 RCV001152718 RCV002534874 RCV001152719 RCV003233860
NM_198253.3(TERT):c.3310A>T (p.Ser1104Cys)	SNV Germline	Chr5:1253817	Conflicting classifications of pathogenicity	Dyskeratosis congenita Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Conflicting Classifications	CA359066865	rs_1579541768	2 SubmittersRCV004559675 RCV002534746
NM_198253.3(TERT):c.3187G>A (p.Gly1063Ser)	SNV Germline	Chr5:1254476	Pathogenic/Likely pathogenic	Pulmonary fibrosis Condition: not provided Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Multiple Submitters No Conflicts	CA112923449	rs_938938578	4 SubmittersRCV002509553 RCV002508262 RCV002534853 RCV004569706
NM_198253.3(TERT):c.3103G>A (p.Val1035Ile)	SNV Germline	Chr5:1255341	Conflicting classifications of pathogenicity	Condition: not provided Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184284	rs_374968697	3 SubmittersRCV003480856 RCV002538104 RCV005278670
NM_198253.3(TERT):c.2813G>A (p.Arg938Gln)	SNV Germline	Chr5:1264434	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Condition: not provided TERT-related disorder Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184390	rs_199741493	5 SubmittersRCV001293959 RCV002536010 RCV003222148 RCV004538131 RCV005502928
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	CA3184516	rs_778051907	3 SubmittersRCV002534756 RCV004559676 RCV004569603
NM_198253.3(TERT):c.2368G>A (p.Val790Ile)	SNV Germline	Chr5:1272199	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Condition: not provided Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184556	rs_371413388	4 SubmittersRCV002537395 RCV004723230 RCV005245506 RCV005286228
NM_198253.3(TERT):c.2251G>A (p.Ala751Thr)	SNV Germline	Chr5:1278676	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Condition: not provided Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184619	rs_772070672	4 SubmittersRCV002535995 RCV003325525 RCV004569783 RCV004559704
NM_198253.3(TERT):c.2248G>A (p.Ala750Thr)	SNV Germline	Chr5:1278679	Conflicting classifications of pathogenicity	Dyskeratosis congenita Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Conflicting Classifications	CA359078996	rs_1579574831	2 SubmittersRCV004559700 RCV002535502
NM_198253.3(TERT):c.2221G>T (p.Val741Leu)	SNV Germline	Chr5:1278706	Conflicting classifications of pathogenicity	not specified Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Condition: not provided	Criteria Provided Conflicting Classifications	CA3184623	rs_150819225	4 SubmittersRCV001816876 RCV004569650 RCV002537289 RCV004773174
NM_198253.3(TERT):c.2108C>T (p.Pro703Leu)	SNV Germline	Chr5:1279313	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Conflicting Classifications	CA3184670	rs_564647937	3 SubmittersRCV001250511 RCV004559695 RCV002537414
NM_198253.3(TERT):c.2105C>T (p.Pro702Leu)	SNV Germline	Chr5:1279316	Conflicting classifications of pathogenicity	Pulmonary fibrosis Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Condition: not provided Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Melanoma, cutaneous malignant, susceptibility to, 9 Acute myeloid leukemia Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications	CA3184672	rs_754809046	4 SubmittersRCV002509550 RCV002538055 RCV004702438 RCV005036181
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	CA359080310	rs_1579575848	1 SubmittersRCV002535497
NM_198253.3(TERT):c.2020G>A (p.Gly674Ser)	SNV Germline	Chr5:1279401	Conflicting classifications of pathogenicity	Condition: not provided Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184684	rs_773813809	3 SubmittersRCV004783864 RCV003103841 RCV005286216
NM_198253.3(TERT):c.2009C>T (p.Ala670Val)	SNV Germline	Chr5:1279412	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Condition: not provided Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184689	rs_767382450	4 SubmittersRCV002534823 RCV004789207 RCV004588270 RCV005502910
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	CA359081681	rs_1579577192	2 SubmittersRCV002534884 RCV003229867
NM_198253.3(TERT):c.1853C>T (p.Thr618Met)	SNV Germline	Chr5:1280255	Conflicting classifications of pathogenicity	Condition: not provided Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184741	rs_746434205	3 SubmittersRCV004773177 RCV002537316 RCV005286222
NM_198253.3(TERT):c.1737T>A (p.Ser579Arg)	SNV Germline	Chr5:1282461	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA359082885	rs_1395379702	2 SubmittersRCV002534724 RCV004559673
NM_198253.3(TERT):c.1692G>A (p.Thr564=)	SNV Germline	Chr5:1282506	Conflicting classifications of pathogenicity	Dyskeratosis congenita Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Condition: not provided TERT-related disorder	Criteria Provided Conflicting Classifications	CA112951893	rs_377217777	4 SubmittersRCV005286221 RCV002538048 RCV003432774 RCV004528305
NM_198253.3(TERT):c.1552G>T (p.Ala518Ser)	SNV Germline	Chr5:1293334	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita Condition: not provided	Criteria Provided Conflicting Classifications	CA3184828	rs_551522837	4 SubmittersRCV003103847 RCV002256553 RCV004761835
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	CA359085571	rs_1561213355	1 SubmittersRCV002538152
NM_198253.3(TERT):c.1323G>T (p.Glu441Asp)	SNV Germline	Chr5:1293563	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA359086196	rs_1213914911	2 SubmittersRCV002534602 RCV004559663
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 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184894	rs_756624928	3 SubmittersRCV002477800 RCV002536948 RCV004822198
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	CA3184923	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	CA3184926	rs_751231538	2 SubmittersRCV002535469 RCV004559698
NM_198253.3(TERT):c.688C>T (p.Arg230Ter)	SNV Germline	Chr5:1294198	Pathogenic	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Single Submitter	CA359057024	rs_989271195	1 SubmittersRCV002538017
NM_198253.3(TERT):c.567C>A (p.His189Gln)	SNV Germline	Chr5:1294319	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Melanoma, cutaneous malignant, susceptibility to, 9 Acute myeloid leukemia Dyskeratosis congenita, autosomal dominant 2 Condition: not provided Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184955	rs_747935528	4 SubmittersRCV002538019 RCV005047074 RCV003332255 RCV004559667
NM_198253.3(TERT):c.566A>G (p.His189Arg)	SNV Germline	Chr5:1294320	Conflicting classifications of pathogenicity	Dyskeratosis congenita Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Conflicting Classifications	CA3184956	rs_769638625	2 SubmittersRCV004559691 RCV002537390
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 Dyskeratosis congenita, autosomal dominant 3 Revesz syndrome	Criteria Provided Conflicting Classifications	CA7130412	rs_369249473	4 SubmittersRCV000819774 RCV001109555 RCV001109556 RCV005004449
NM_025099.6(CTC1):c.2828C>T (p.Pro943Leu)	SNV Germline	Chr17:8230399	Conflicting classifications of pathogenicity	Dyskeratosis congenita Condition: not provided	Criteria Provided Conflicting Classifications	CA8371959	rs_376216833	3 SubmittersRCV000794761 RCV004692262
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	CA8372126	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	CA8372127	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	CA8372540	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	CA8372641	rs_200137992	3 SubmittersRCV000820755 RCV001270120
NM_001283009.2(RTEL1):c.1301C>T (p.Thr434Met)	SNV Germline	Chr20:63685825	Conflicting classifications of pathogenicity	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Dyskeratosis congenita, autosomal recessive 5 Dyskeratosis congenita, autosomal recessive 5 Condition: not provided Dyskeratosis congenita RTEL1-related disorder	Criteria Provided Conflicting Classifications	CA9964727	rs_77086616	11 SubmittersRCV000795835 RCV000990340 RCV001508902 RCV001835962 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	CA9965653	rs_199834369	6 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	CA9965656	rs_369716125	4 SubmittersRCV000807655 RCV001273628 RCV004028621
NM_001283009.2(RTEL1):c.3422C>T (p.Pro1141Leu)	SNV Germline	Chr20:63695144	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 not specified	Criteria Provided Conflicting Classifications	CA9966025	rs_201682415	6 SubmittersRCV000815059 RCV001560182 RCV003307522 RCV003489905
NM_198253.3(TERT):c.2383-5C>G	SNV Germline	Chr5:1271209	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184527	rs_373488315	2 SubmittersRCV002539945 RCV005492891
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	CA7912342	rs_368739970	2 SubmittersRCV000808913 RCV001816878
NM_001283009.2(RTEL1):c.538+3A>G	SNV Germline	Chr20:63662892	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 not specified RTEL1-related disorder	Criteria Provided Conflicting Classifications	CA9964312	rs_201706459	7 SubmittersRCV000807168 RCV002261222 RCV002534836 RCV001275075 RCV005436070 RCV004538107
NM_198253.3(TERT):c.1590G>C (p.Pro530=)	SNV Germline	Chr5:1282608	Conflicting classifications of pathogenicity	not specified Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA443026059	rs_1396912668	3 SubmittersRCV000826056 RCV003768563 RCV004822239
NM_001363.5(DKC1):c.1167G>A (p.Lys389=)	SNV Germline	ChrX:154774613	Conflicting classifications of pathogenicity	Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA10567181	rs_369066088	2 SubmittersRCV001440717
NM_198253.3(TERT):c.3267C>T (p.Tyr1089=)	SNV Germline	Chr5:1254396	Conflicting classifications of pathogenicity	Dyskeratosis congenita not specified Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 TERT-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA3184240	rs_759883263	6 SubmittersRCV002256570 RCV001816988 RCV002539055 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	CA8371758	rs_369209127	3 SubmittersRCV000866336 RCV001807366
NM_025099.6(CTC1):c.1748G>A (p.Ser583Asn)	SNV Germline	Chr17:8234525	Conflicting classifications of pathogenicity	Dyskeratosis congenita Cerebroretinal microangiopathy with calcifications and cysts 1	Criteria Provided Conflicting Classifications	CA8372266	rs_568980956	2 SubmittersRCV000870439 RCV005225172
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	CA8372756	rs_749818659	3 SubmittersRCV000865988 RCV001448256 RCV001807365
NM_198253.3(TERT):c.2469-9C>T	SNV Germline	Chr5:1268642	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184489	rs_764029536	2 SubmittersRCV002538978 RCV002258012
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	CA8372217	rs_369285521	3 SubmittersRCV001122624 RCV001807367
NM_198253.3(TERT):c.2187C>T (p.Ile729=)	SNV Germline	Chr5:1278740	Conflicting classifications of pathogenicity	not specified Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 TERT-related disorder Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184630	rs_200819224	4 SubmittersRCV001817036 RCV002539221 RCV004530847 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	CA8372320	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 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184221	rs_371015305	3 SubmittersRCV001817041 RCV002540025 RCV005278685
NM_198253.3(TERT):c.2451C>T (p.Ala817=)	SNV Germline	Chr5:1271136	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184515	rs_752794198	2 SubmittersRCV005208898 RCV005492910
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 Dyskeratosis congenita Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9964300	rs_142058793	6 SubmittersRCV000966294 RCV001275074 RCV002066393 RCV004029924
NM_001283009.2(RTEL1):c.2428G>A (p.Gly810Arg)	SNV Germline	Chr20:63690819	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal recessive 5 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Dyskeratosis congenita Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9965360	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	CA9965551	rs_140986557	6 SubmittersRCV000887579 RCV001277148 RCV002434180 RCV003328638
NM_001283009.2(RTEL1):c.2824G>A (p.Asp942Asn)	SNV Germline	Chr20:63692976	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal recessive 5 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Dyskeratosis congenita RTEL1-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA9965560	rs_116247954	5 SubmittersRCV000881683 RCV001830933 RCV004530903 RCV005231934
NM_001283009.2(RTEL1):c.94C>T (p.Leu32=)	SNV Germline	Chr20:63659496	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal recessive 5 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Inborn genetic diseases Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA9964085	rs_375849124	3 SubmittersRCV000897034 RCV002372522 RCV002258030
NM_001283009.2(RTEL1):c.2352C>T (p.Phe784=)	SNV Germline	Chr20:63690380	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal recessive 5 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Dyskeratosis congenita Dyskeratosis congenita, autosomal dominant 1 Condition: not provided RTEL1-related disorder	Criteria Provided Conflicting Classifications	CA9965301	rs_140564753	5 SubmittersRCV000898065 RCV002256587 RCV001277141 RCV004726726 RCV004541868
NM_001283009.2(RTEL1):c.3745G>A (p.Ala1249Thr)	SNV Germline	Chr20:63695573	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	CA9966173	rs_201237264	2 SubmittersRCV001448339 RCV004958248
NM_001283009.2(RTEL1):c.3803G>C (p.Cys1268Ser)	SNV Germline	Chr20:63695631	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal recessive 5 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA409710337	rs_1601200861	3 SubmittersRCV002537600 RCV005268806 RCV004818078
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	CA7911899	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 WRAP53-related disorder	Criteria Provided Conflicting Classifications	CA8355075	rs_199901527	4 SubmittersRCV000920723 RCV001123320 RCV002372558 RCV004754632
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 WRAP53-related disorder Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA8355383	rs_146651237	5 SubmittersRCV000919316 RCV001125416 RCV003933091 RCV002390916
NM_198253.3(TERT):c.3042A>T (p.Ala1014=)	SNV Germline	Chr5:1255402	Conflicting classifications of pathogenicity	Condition: not provided Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications	CA443020477	rs_1337149388	2 SubmittersRCV003329351 RCV005208888
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	CA8114654	rs_199626332	3 SubmittersRCV000944739 RCV002268374 RCV003456459
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	CA915952073	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	CA9964242	rs_774523585	4 SubmittersRCV000978133 RCV001493570 RCV001832254 RCV004535990
NM_001283009.2(RTEL1):c.3087G>A (p.Leu1029=)	SNV Germline	Chr20:63694466	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal recessive 5 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Dyskeratosis congenita Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9965827	rs_753147923	5 SubmittersRCV000975341 RCV001832221 RCV002511005 RCV004958340
NM_001283009.2(RTEL1):c.3407C>G (p.Thr1136Ser)	SNV Germline	Chr20:63695129	Conflicting classifications of pathogenicity	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Dyskeratosis congenita, autosomal recessive 5 Condition: not provided Dyskeratosis congenita RTEL1-related disorder	Criteria Provided Conflicting Classifications	CA9966016	rs_150686112	5 SubmittersRCV000976461 RCV005054284 RCV001272199 RCV004735920
NM_001363.5(DKC1):c.1350G>C (p.Glu450Asp)	SNV Germline	ChrX:154776198	Conflicting classifications of pathogenicity	Dyskeratosis congenita Dyskeratosis congenita, X-linked Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1	Criteria Provided Conflicting Classifications	CA414899338	rs_1557265675	2 SubmittersRCV001401399 RCV005047156
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	CA7912343	rs_757910862	3 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	CA636615230	rs_1236751268	2 SubmittersRCV000990341 RCV001490728
NM_002582.4(PARN):c.1006-11G>A	SNV Germline	Chr16:14584433	Conflicting classifications of pathogenicity	Familial Interstitial Pneumonia Pulmonary fibrosis Dyskeratosis congenita, autosomal recessive 6 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 Condition: not provided	Criteria Provided Conflicting Classifications	CA7912192	rs_746114163	4 SubmittersRCV001034580 RCV001862465 RCV005232066
NM_002582.4(PARN):c.620+5G>A	SNV Germline	Chr16:14609053	Likely pathogenic	Pulmonary fibrosis Familial Interstitial Pneumonia 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	Criteria Provided Single Submitter	CA493436240	rs_1971361795	3 SubmittersRCV001034547 RCV003992433 RCV005213449
NM_198253.3(TERT):c.3251G>A (p.Arg1084Gln)	SNV Germline	Chr5:1254412	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita Condition: not provided	Criteria Provided Conflicting Classifications	CA3184244	rs_765787352	3 SubmittersRCV002554514 RCV004559893 RCV004693570
NM_198253.3(TERT):c.2852G>A (p.Arg951Gln)	SNV Germline	Chr5:1260592	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita Condition: not provided	Criteria Provided Conflicting Classifications	CA3184353	rs_755707625	3 SubmittersRCV002552581 RCV004559859 RCV004768809
NM_198253.3(TERT):c.2851C>T (p.Arg951Trp)	SNV Germline	Chr5:1260593	Conflicting classifications of pathogenicity	Interstitial lung disease 2 Dyskeratosis congenita Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 TERT-related disorder	Criteria Provided Conflicting Classifications	CA3184355	rs_370445231	5 SubmittersRCV002253765 RCV004559843 RCV005251242 RCV002551377 RCV004536066
NM_198253.3(TERT):c.2704A>T (p.Lys902Ter)	SNV Germline	Chr5:1264543	Pathogenic	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Single Submitter	CA359072163	rs_1748461171	1 SubmittersRCV002554599
NM_198253.3(TERT):c.2145C>T (p.Gly715=)	SNV Germline	Chr5:1278782	Conflicting classifications of pathogenicity	Dyskeratosis congenita Melanoma, cutaneous malignant, susceptibility to, 9 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 TERT-related disorder	Criteria Provided Conflicting Classifications	CA3184639	rs_769467251	5 SubmittersRCV002258103 RCV002290572 RCV002552631 RCV004735937
NM_198253.3(TERT):c.2015G>A (p.Arg672His)	SNV Germline	Chr5:1279406	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA359080378	rs_1353891039	3 SubmittersRCV002553072 RCV003473622 RCV005286276
NM_198253.3(TERT):c.1949G>A (p.Arg650Lys)	SNV Germline	Chr5:1280159	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Condition: not provided Acute myeloid leukemia Dyskeratosis congenita, autosomal dominant 2 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Melanoma, cutaneous malignant, susceptibility to, 9 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184719	rs_190125817	4 SubmittersRCV002551474 RCV004726815 RCV005036316 RCV005502976
NM_198253.3(TERT):c.1743G>A (p.Trp581Ter)	SNV Germline	Chr5:1282455	Pathogenic	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Single Submitter	CA359082862	rs_1750086002	1 SubmittersRCV003103904
NM_198253.3(TERT):c.1729C>T (p.Arg577Trp)	SNV Germline	Chr5:1282469	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA359082912	rs_1207489144	2 SubmittersRCV002554525 RCV005250132
NM_198253.3(TERT):c.1580G>T (p.Gly527Val)	SNV Germline	Chr5:1282618	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA112951997	rs_1006357203	2 SubmittersRCV002555892 RCV004559900
NM_198253.3(TERT):c.1438T>C (p.Ser480Pro)	SNV Germline	Chr5:1293448	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA112957554	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	CA359085649	rs_1751122711	1 SubmittersRCV001045523
NM_198253.3(TERT):c.1339C>T (p.Arg447Cys)	SNV Germline	Chr5:1293547	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA359086106	rs_1304418053	3 SubmittersRCV002552511 RCV003467728 RCV005286278
NM_198253.3(TERT):c.976G>A (p.Ala326Thr)	SNV Germline	Chr5:1293910	Conflicting classifications of pathogenicity	Condition: not provided Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA112914808	rs_1030156757	3 SubmittersRCV002298867 RCV002555899 RCV004559901
NM_198253.3(TERT):c.820T>A (p.Ser274Thr)	SNV Germline	Chr5:1294066	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA359056640	rs_1751200603	2 SubmittersRCV002553844 RCV004559882
NM_198253.3(TERT):c.776C>T (p.Pro259Leu)	SNV Germline	Chr5:1294110	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184917	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	CA7130694	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	CA394808563	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	CA8114434	rs_200293827	2 SubmittersRCV001039741 RCV002391112
NM_025099.6(CTC1):c.3463A>G (p.Ile1155Val)	SNV Germline	Chr17:8228554	Conflicting classifications of pathogenicity	Dyskeratosis congenita not specified Condition: not provided Inborn genetic diseases Cerebroretinal microangiopathy with calcifications and cysts 1	Criteria Provided Conflicting Classifications	CA8371766	rs_571554235	5 SubmittersRCV001043494 RCV001819756 RCV003320793 RCV004973274 RCV005021362
NM_025099.6(CTC1):c.2973T>G (p.Tyr991Ter)	SNV Germline	Chr17:8229929	Pathogenic	Dyskeratosis congenita	Criteria Provided Single Submitter	CA397973179	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	CA8371929	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 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA8371990	rs_201203345	5 SubmittersRCV001059642 RCV002553867 RCV003963021 RCV004797897 RCV005418977
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	CA397979586	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	CA8372383	rs_201273283	2 SubmittersRCV001060950
NM_025099.6(CTC1):c.917G>A (p.Arg306His)	SNV Germline	Chr17:8236218	Conflicting classifications of pathogenicity	Dyskeratosis congenita Cerebroretinal microangiopathy with calcifications and cysts 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8372521	rs_567779457	4 SubmittersRCV001068992 RCV001807380 RCV005318607
NM_025099.6(CTC1):c.322C>T (p.Arg108Ter)	SNV Germline	Chr17:8238505	Pathogenic	Dyskeratosis congenita	Criteria Provided Single Submitter	CA8372652	rs_372031509	1 SubmittersRCV001044694
NM_001283009.2(RTEL1):c.361C>T (p.Gln121Ter)	SNV Germline	Chr20:63661909	Pathogenic	Dyskeratosis congenita, autosomal recessive 5 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3	Criteria Provided Single Submitter	CA409668736	rs_2090027846	1 SubmittersRCV001049521
NM_001283009.2(RTEL1):c.1346G>A (p.Arg449Gln)	SNV Germline	Chr20:63685870	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	CA9964741	rs_779873020	3 SubmittersRCV001066494 RCV001275090 RCV004671207
NM_001283009.2(RTEL1):c.1606G>T (p.Glu536Ter)	SNV Germline	Chr20:63688149	Pathogenic	Dyskeratosis congenita, autosomal recessive 5 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3	Criteria Provided Single Submitter	CA409676994	rs_2090639016	1 SubmittersRCV001037577
NM_198253.3(TERT):c.2382+1G>C	SNV Germline	Chr5:1272184	Likely pathogenic	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Single Submitter	CA359076174	rs_1749089374	1 SubmittersRCV002552073
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	CA359073144	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	CA7130722	rs_758462532	2 SubmittersRCV001109637 RCV001109636 RCV002555068
NM_001099274.3(TINF2):c.30A>G (p.Ala10=)	SNV Germline	Chr14:24242303	Conflicting classifications of pathogenicity	Revesz syndrome Dyskeratosis congenita, autosomal dominant 3 Dyskeratosis congenita not specified	Criteria Provided Conflicting Classifications	CA7130770	rs_779819186	4 SubmittersRCV001111935 RCV001111934 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	CA8354934	rs_150180394	2 SubmittersRCV001127390 RCV002070083
NM_001143992.2(WRAP53):c.1537C>G (p.Arg513Gly)	SNV Germline	Chr17:7703376	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal recessive 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA8355388	rs_144549494	5 SubmittersRCV001127517 RCV001309979
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	CA8372073	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	CA497959003	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	CA624729577	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	CA8355053	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	CA1139665213	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	CA443240716	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 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	CA443239908	rs_1033402019	2 SubmittersRCV001155588 RCV001155587 RCV001155589 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	CA443240262	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	CA414898040	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 Pulmonary fibrosis Condition: not provided Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Conflicting Classifications	CA359058709	rs_1751271544	4 SubmittersRCV001172441 RCV002509620 RCV001819874 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 Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Multiple Submitters No Conflicts	CA359071530	rs_1422814635	5 SubmittersRCV001172444 RCV001819875 RCV002509621 RCV004559909 RCV002559651
NM_198253.3(TERT):c.1891C>T (p.Arg631Trp)	SNV Germline	Chr5:1280217	Pathogenic/Likely pathogenic	Acute myeloid leukemia Pulmonary fibrosis Dyskeratosis congenita Condition: not provided Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis TERT-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA359081468	rs_1194223999	7 SubmittersRCV001172450 RCV002509622 RCV004559910 RCV001819876 RCV002558734 RCV004734036
NM_001363.5(DKC1):c.133G>A (p.Ala45Thr)	SNV Unknown	ChrX:154765492	Likely pathogenic	Dyskeratosis congenita, X-linked	Criteria Provided Single Submitter	CA414888926	rs_2071733846	1 SubmittersRCV001195949
NM_198253.3(TERT):c.2638G>A (p.Ala880Thr)	SNV Germline	Chr5:1266480	Pathogenic/Likely pathogenic	Condition: not provided Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Multiple Submitters No Conflicts	CA359073151	rs_1748613571	4 SubmittersRCV001819918 RCV003150824 RCV003770256 RCV003150823
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	CA8372145	rs_371046424	2 SubmittersRCV001220129 RCV002562498
NM_025099.6(CTC1):c.17C>T (p.Ala6Val)	SNV Germline	Chr17:8248020	Conflicting classifications of pathogenicity	Dyskeratosis congenita Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8372762	rs_371541763	2 SubmittersRCV001224710 RCV003163752
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	CA359067406	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	CA359068884	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 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184749	rs_769540249	3 SubmittersRCV003103930 RCV003324819 RCV005278753
NM_198253.3(TERT):c.1292C>T (p.Pro431Leu)	SNV Germline	Chr5:1293594	Conflicting classifications of pathogenicity	Dyskeratosis congenita Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Conflicting Classifications	CA359086349	rs_1164823749	2 SubmittersRCV004559926 RCV002561184
NM_001099274.3(TINF2):c.793C>T (p.Arg265Ter)	SNV Germline	Chr14:24240687	Conflicting classifications of pathogenicity	Dyskeratosis congenita Long telomere syndrome TINF2-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA257880956	rs_200320654	5 SubmittersRCV001212678 RCV004561955 RCV003405398 RCV001780129
NM_002582.4(PARN):c.709C>T (p.Arg237Ter)	SNV Germline	Chr16:14604220	Pathogenic	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 Dyskeratosis congenita, autosomal recessive 6 Condition: not provided Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4	Criteria Provided Multiple Submitters No Conflicts	CA7912316	rs_760506977	3 SubmittersRCV001201968 RCV001819891 RCV001252646
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	CA8372758	rs_374877315	4 SubmittersRCV001213645 RCV002249804
NM_001283009.2(RTEL1):c.475C>T (p.Gln159Ter)	SNV Germline	Chr20:63662625	Pathogenic	Dyskeratosis congenita, autosomal recessive 5 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3	Criteria Provided Single Submitter	CA409669769	rs_2090043175	1 SubmittersRCV001207263
NM_001283009.2(RTEL1):c.2461G>T (p.Glu821Ter)	SNV Germline	Chr20:63690852	Pathogenic	Dyskeratosis congenita, autosomal recessive 5 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3	Criteria Provided Single Submitter	CA409681528	rs_2090722556	1 SubmittersRCV001206922
NM_001283009.2(RTEL1):c.2485C>T (p.Gln829Ter)	SNV Germline	Chr20:63690876	Pathogenic	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Dyskeratosis congenita, autosomal recessive 5	Criteria Provided Single Submitter	CA409681618	rs_1278121916	1 SubmittersRCV001203817
NM_001283009.2(RTEL1):c.2725C>T (p.Gln909Ter)	SNV Germline	Chr20:63692877	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	CA409682917	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	CA414889354	rs_2071739379	2 SubmittersRCV001209989
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	CA8372092	rs_199861310	4 SubmittersRCV001203903 RCV001809993
NM_001283009.2(RTEL1):c.539-6C>A	SNV Germline	Chr20:63665998	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal recessive 5 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Dyskeratosis congenita not specified	Criteria Provided Conflicting Classifications	CA9964335	rs_778544732	4 SubmittersRCV001206466 RCV001833812 RCV004699193
NM_198253.3(TERT):c.1574-1G>A	SNV Germline	Chr5:1282625	Likely pathogenic	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Single Submitter	CA359083627	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	CA395183289	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	CA359073154	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 Melanoma, cutaneous malignant, susceptibility to, 9 Acute myeloid leukemia Dyskeratosis congenita, autosomal dominant 2 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1	Criteria Provided Conflicting Classifications	CA3184462	rs_755183437	3 SubmittersRCV002563844 RCV004557474 RCV005040073
NM_198253.3(TERT):c.1828C>T (p.Arg610Trp)	SNV Germline	Chr5:1280280	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Conflicting Classifications	CA3184747	rs_747940807	3 SubmittersRCV003473789 RCV002563111
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	CA359055821	rs_1279397908	3 SubmittersRCV002256713 RCV002563174
NM_198253.3(TERT):c.902G>T (p.Arg301Leu)	SNV Germline	Chr5:1293984	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications	CA359056225	rs_1268051204	2 SubmittersRCV002563726 RCV005245512
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	CA3184912	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	CA359057029	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	CA359058985	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	CA8114860	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	CA397978863	rs_1201426650	1 SubmittersRCV001233953
NM_001283009.2(RTEL1):c.2038C>T (p.Gln680Ter)	SNV Germline	Chr20:63689762	Pathogenic	Dyskeratosis congenita, autosomal recessive 5 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3	Criteria Provided Single Submitter	CA409679004	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	CA9965161	rs_768188490	2 SubmittersRCV001233061 RCV003469423
NM_001283009.2(RTEL1):c.3169C>T (p.Gln1057Ter)	SNV Germline	Chr20:63694800	Pathogenic/Likely pathogenic	Dyskeratosis congenita, autosomal recessive 5 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Condition: not provided Dyskeratosis congenita, autosomal recessive 5	Criteria Provided Multiple Submitters No Conflicts	CA409684892	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	CA112957663	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	CA3184916	rs_746036694	3 SubmittersRCV002256723 RCV002568661
NM_025099.6(CTC1):c.3568G>A (p.Val1190Met)	SNV Germline	Chr17:8228266	Conflicting classifications of pathogenicity	Dyskeratosis congenita Cerebroretinal microangiopathy with calcifications and cysts 1	Criteria Provided Conflicting Classifications	CA8371705	rs_371036203	2 SubmittersRCV001247683 RCV005232217
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 CTC1-related disorder	Criteria Provided Conflicting Classifications	CA8372035	rs_780358670	5 SubmittersRCV001241949 RCV001558827 RCV001807394 RCV001819943 RCV004751934
NM_001283009.2(RTEL1):c.2191C>T (p.His731Tyr)	SNV Germline	Chr20:63690136	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal recessive 5 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Dyskeratosis congenita Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9965223	rs_149063501	4 SubmittersRCV001243050 RCV001829010 RCV004762017 RCV004960636
NM_001283009.2(RTEL1):c.2965C>T (p.Arg989Trp)	SNV Germline	Chr20:63693256	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal recessive 5 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Dyskeratosis congenita, autosomal recessive 5 Condition: not provided Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA9965676	rs_139221232	6 SubmittersRCV001242762 RCV001267792 RCV001732088 RCV001835138
NM_001283009.2(RTEL1):c.2990C>G (p.Thr997Ser)	SNV Germline	Chr20:63693281	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	CA317522409	rs_1046295138	3 SubmittersRCV001243173 RCV001829015 RCV002564055
NM_001283009.2(RTEL1):c.2999C>T (p.Thr1000Met)	SNV Germline	Chr20:63694378	Conflicting classifications of pathogenicity	Inborn genetic diseases Dyskeratosis congenita, autosomal recessive 5 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA9965788	rs_201560152	4 SubmittersRCV002447205 RCV001242903 RCV001751484
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	CA9965904	rs_137914057	5 SubmittersRCV001244547 RCV001835205 RCV002259387 RCV004538512
NM_001283009.2(RTEL1):c.3783C>G (p.Asp1261Glu)	SNV Germline	Chr20:63695611	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	Criteria Provided Conflicting Classifications	CA9966183	rs_376313219	4 SubmittersRCV001245936 RCV003433090 RCV005269023
NM_001283009.2(RTEL1):c.1191+1G>C	SNV Germline	Chr20:63680720	Likely pathogenic	Dyskeratosis congenita, autosomal recessive 5 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Dyskeratosis congenita	Criteria Provided Single Submitter	CA409674698	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	CA7912414	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 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA359075759	rs_1169312254	4 SubmittersRCV001267800 RCV002568705 RCV003229617 RCV004822340
NM_198253.3(TERT):c.1285G>T (p.Glu429Ter)	SNV Germline	Chr5:1293601	Pathogenic	Dyskeratosis congenita, autosomal dominant 2	No Assertion Criteria Provided	CA359086370	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 Inborn genetic diseases Dyskeratosis congenita, autosomal recessive 6 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4	Criteria Provided Conflicting Classifications	CA278510978	rs_757655633	3 SubmittersRCV001260999 RCV003263914 RCV001880000
NR_001566.3(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	CA436715820	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	CA3184446	rs_372868296	3 SubmittersRCV001268086 RCV002541635 RCV004557498
NM_025099.6(CTC1):c.670C>T (p.Arg224Ter)	SNV Germline	Chr17:8237497	Pathogenic	Condition: not provided Dyskeratosis congenita CTC1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA397991957	rs_1169567839	3 SubmittersRCV001268612 RCV001880169 RCV003898254
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	CA9965280	rs_537754916	5 SubmittersRCV001279963 RCV002542938 RCV004035497
NM_001283009.2(RTEL1):c.2531G>A (p.Arg844Gln)	SNV Germline	Chr20:63690922	Conflicting classifications of pathogenicity	Dyskeratosis congenita Inborn genetic diseases Dyskeratosis congenita, autosomal recessive 5 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3	Criteria Provided Conflicting Classifications	CA9965384	rs_758245234	3 SubmittersRCV001279965 RCV005269035 RCV005213513
NM_198253.3(TERT):c.2764A>T (p.Met922Leu)	SNV Germline	Chr5:1264483	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita Condition: not provided	Criteria Provided Conflicting Classifications	CA3184402	rs_554229004	3 SubmittersRCV002539471 RCV004557519 RCV004762062
NM_198253.3(TERT):c.965C>T (p.Pro322Leu)	SNV Germline	Chr5:1293921	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA359056059	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	CA10567282	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 Pulmonary fibrosis Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications	CA359069981	rs_1748153358	3 SubmittersRCV002327692 RCV002509657 RCV002543591 RCV003447587
NM_198253.3(TERT):c.1483A>C (p.Ile495Leu)	SNV Germline	Chr5:1293403	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA359085389	rs_1561213308	2 SubmittersRCV002543728 RCV004557533
NM_198253.3(TERT):c.761G>C (p.Gly254Ala)	SNV Germline	Chr5:1294125	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA359056875	rs_1364961973	2 SubmittersRCV002546186 RCV005278824
NM_025099.6(CTC1):c.2783G>T (p.Cys928Phe)	SNV Germline	Chr17:8230444	Conflicting classifications of pathogenicity	Dyskeratosis congenita Condition: not provided	Criteria Provided Conflicting Classifications	CA8371966	rs_373660155	2 SubmittersRCV001314378 RCV004692473
NM_001283009.2(RTEL1):c.664A>G (p.Ile222Val)	SNV Germline	Chr20:63667518	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	CA409670715	rs_1235107432	3 SubmittersRCV001326895 RCV001831022 RCV004960780
NM_001283009.2(RTEL1):c.2483G>A (p.Arg828Gln)	SNV Germline	Chr20:63690874	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	CA9965374	rs_774640608	4 SubmittersRCV001325719 RCV001830375 RCV004035176 RCV005094399
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 Inborn genetic diseases Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA9965573	rs_761268803	3 SubmittersRCV001327028 RCV002438753 RCV001831026
NM_001363.5(DKC1):c.41A>G (p.Lys14Arg)	SNV Germline	ChrX:154764923	Conflicting classifications of pathogenicity	Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA10566955	rs_376632263	2 SubmittersRCV001313757
NM_001363.5(DKC1):c.84C>T (p.Ala28=)	SNV Germline	ChrX:154764966	Conflicting classifications of pathogenicity	Dyskeratosis congenita DKC1-related disorder Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA10566960	rs_142474971	4 SubmittersRCV001326733 RCV004035214 RCV003438741 RCV005236805
NM_001363.5(DKC1):c.487A>G (p.Ile163Val)	SNV Germline	ChrX:154767035	Conflicting classifications of pathogenicity	Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA414890035	rs_782159247	2 SubmittersRCV001315023
NM_198253.3(TERT):c.2286+1G>A	SNV Germline	Chr5:1278640	Likely pathogenic	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA359078622	rs_1749780301	3 SubmittersRCV002675447 RCV004558797 RCV005429379
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 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184852	rs_781329984	3 SubmittersRCV002329318 RCV002546931 RCV004822364
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	CA8114529	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	CA8114848	rs_779383442	2 SubmittersRCV001339731 RCV002438772
NM_001283009.2(RTEL1):c.3437C>T (p.Pro1146Leu)	SNV Germline	Chr20:63695159	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal recessive 5 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Dyskeratosis congenita Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9966030	rs_749331637	4 SubmittersRCV001350999 RCV001825970 RCV004692617 RCV004960848

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
Dyskeratosis congenita, autosomal dominant 1
Revesz syndrome
Dyskeratosis congenita, autosomal dominant 3

Criteria Provided
Multiple Submitters
No Conflicts

CA117651

rs_121918544

10 SubmittersRCV000005978 RCV000005979 RCV001509450 RCV001382425 RCV002490324

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
Dyskeratosis congenita
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA117653

rs_121918545

9 SubmittersRCV000005981 RCV000032169 RCV001054196 RCV000434257

NR_001566.3(TERC):n.408C>G

SNV
Unknown

Chr3:169764653

Pathogenic

Dyskeratosis congenita, autosomal dominant 1

No Assertion Criteria Provided

CA340671

rs_199422284

2 SubmittersRCV000007744

NR_001566.3(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_001566.3(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
Pulmonary fibrosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA118716

rs_199422272

5 SubmittersRCV000007750 RCV000032559 RCV002509148 RCV001818142

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
DKC1-related disorder

No Assertion Criteria Provided

CA913184922

rs_1603429348

2 SubmittersRCV000012347 RCV004730843

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

6 SubmittersRCV000012350 RCV000055630 RCV000479038 RCV001857333

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

SNV
Germline

ChrX:154765472

Pathogenic

Dyskeratosis congenita, X-linked
Hoyeraal-Hreidarsson syndrome

No Assertion Criteria Provided

CA264769

rs_28936072

3 SubmittersRCV000055631 RCV000012351

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

CA414898522

rs_1569558616

1 SubmittersRCV000012354

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

SNV
Germline

Chr5:1294282

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA122653

rs_121918661

21 SubmittersRCV000013566 RCV000032398 RCV000604322 RCV000489117 RCV000758251 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
not specified
Autosomal recessive dyskeratosis congenita 4
Dyskeratosis congenita, autosomal dominant 2
Condition: not provided
Dyskeratosis congenita
Melanoma, cutaneous malignant, susceptibility to, 9
Acute myeloid leukemia
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Conflicting Classifications

CA122655

rs_34094720

15 SubmittersRCV000013567 RCV000032365 RCV000218461 RCV000190902 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
Pulmonary fibrosis
TERT-related disorder
Dyskeratosis congenita
Condition: not provided

Criteria Provided
Conflicting Classifications

CA122657

rs_121918662

7 SubmittersRCV000013568 RCV000032373 RCV002513015 RCV002509152 RCV004532332 RCV004558246 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
Pulmonary fibrosis
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Multiple Submitters
No Conflicts

CA122665

rs_121918666

7 SubmittersRCV000013573 RCV000032385 RCV000412959 RCV002509153 RCV003460466 RCV002513016

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

SNV
Germline

Chr5:1294770

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

Criteria Provided
Multiple Submitters
No Conflicts

CA122668

rs_199422309

4 SubmittersRCV000013575 RCV000032380 RCV004700226 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
Condition: not provided
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Pulmonary fibrosis
Dyskeratosis congenita
Telomere syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA128724

rs_199422294

12 SubmittersRCV000022783 RCV000032370 RCV000677344 RCV003150932 RCV002513175 RCV002509167 RCV004558270 RCV003325404

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

Criteria Provided
Conflicting Classifications

CA128727

rs_199422301

7 SubmittersRCV000022784 RCV000032383 RCV002051796 RCV001797047 RCV002513176 RCV005237404 RCV005278528

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
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Conflicting Classifications

CA128729

rs_199422304

4 SubmittersRCV000022785 RCV000032388 RCV004558271 RCV003764630

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

6 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
Condition: not provided
Dyskeratosis congenita

Criteria Provided
Multiple Submitters
No Conflicts

CA129608

rs_202138550

5 SubmittersRCV000023987 RCV001268611 RCV000533706

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

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA129611

rs_373905859

5 SubmittersRCV000023990 RCV001051564 RCV001551084

NM_025099.6(CTC1):c.1994T>G (p.Val665Gly)

SNV
Germline

Chr17:8232427

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA129614

rs_199473676

5 SubmittersRCV000023993 RCV003227608 RCV005089310

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

SNV
Germline

Chr17:8228251

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA129615

rs_199473682

3 SubmittersRCV000023994 RCV003645857 RCV004700276

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

SNV
Germline

Chr17:8237487

Pathogenic

Dyskeratosis congenita
Cerebroretinal microangiopathy with calcifications and cysts 1

Criteria Provided
Multiple Submitters
No Conflicts

CA129617

rs_199473673

3 SubmittersRCV002513215 RCV000023995

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

Criteria Provided
Conflicting Classifications

CA044696

rs_141425941

8 SubmittersRCV001549913 RCV004822024 RCV003992244 RCV002518376 RCV003325196 RCV004734891 RCV005625474

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

CA044715

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

Criteria Provided
Multiple Submitters
No Conflicts

CA129984

rs_387907249

6 SubmittersRCV000030629 RCV003447479 RCV002513272

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

Criteria Provided
Conflicting Classifications

CA129988

rs_387907251

6 SubmittersRCV000030631 RCV001753435 RCV002513273 RCV004558275 RCV004767022

NM_001099274.3(TINF2):c.734C>A (p.Ser245Tyr)

SNV
Germline

Chr14:24240746

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 1
Dyskeratosis congenita, autosomal dominant 3
Dyskeratosis congenita
Revesz syndrome
not specified
Malignant tumor of breast
Condition: not provided
Dyskeratosis congenita, autosomal dominant 1
Revesz syndrome
Dyskeratosis congenita, autosomal dominant 3

Criteria Provided
Conflicting Classifications

CA343172

rs_142777869

11 SubmittersRCV000032164 RCV000394153 RCV000545340 RCV000350321 RCV001731323 RCV001269497 RCV004703189 RCV002496488

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
Dyskeratosis congenita
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA343187

rs_199422316

3 SubmittersRCV000032175 RCV001852639 RCV001818202

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_001363.5(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

16 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_001363.5(DKC1):c.949C>T (p.Leu317Phe)

SNV
Germline

ChrX:154770792

Likely pathogenic

Dyskeratosis congenita, X-linked
Dyskeratosis congenita

Criteria Provided
Single Submitter

CA343262

rs_121912290

3 SubmittersRCV000032208 RCV004018699

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

Criteria Provided
Conflicting Classifications

CA343424

rs_199422293

5 SubmittersRCV000032367 RCV002326716 RCV002514131 RCV004808559 RCV002509174 RCV004558276

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

SNV
Unknown

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

Criteria Provided
Multiple Submitters
No Conflicts

CA128731

rs_199422297

9 SubmittersRCV000022786 RCV000032375 RCV000520116 RCV002509175 RCV003103717 RCV003460537 RCV004558278 RCV004799751

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

SNV
Germline

Chr5:1278780

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA343437

rs_199422298

7 SubmittersRCV000032376 RCV001576802 RCV004786285 RCV002514132 RCV004558279

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

SNV
Germline

Chr5:1278750

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 1
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Condition: not provided
Melanoma, cutaneous malignant, susceptibility to, 9
Acute myeloid leukemia
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Dyskeratosis congenita, autosomal dominant 2
Interstitial lung disease 2
Dyskeratosis congenita
not specified
TERT-related disorder
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Conflicting Classifications

CA343442

rs_149566858

10 SubmittersRCV000032378 RCV002514133 RCV003137552 RCV005031467 RCV000987499 RCV005278529 RCV001818203 RCV004532476 RCV003466884

NM_198253.3(TERT):c.2935C>T (p.Arg979Trp)

SNV
Germline/somatic

Chr5:1260509

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA170795

rs_199422305

5 SubmittersRCV000032390 RCV000144245 RCV002509176 RCV002513300 RCV005250001

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

Criteria Provided
Conflicting Classifications

CA129990

rs_35719940

18 SubmittersRCV000030632 RCV000032393 RCV000151992 RCV000305704 RCV000395635 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
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Pulmonary fibrosis

Criteria Provided
Conflicting Classifications

CA343461

rs_199422291

5 SubmittersRCV000032397 RCV000256024 RCV002513303 RCV002509178

NR_001566.3(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
Dyskeratosis congenita, autosomal recessive 5
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Inborn genetic diseases
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA130947

rs_201540674

17 SubmittersRCV000034860 RCV000201662 RCV000524079 RCV000586517 RCV000814441 RCV002513343 RCV003329238 RCV002222150

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

SNV
Germline

Chr20:63687765

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA130951

rs_398123017

15 SubmittersRCV000034862 RCV000201744 RCV000589642 RCV000651094 RCV002509182 RCV001558635 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
Dyskeratosis congenita, autosomal recessive 5
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Condition: not provided
RTEL1-related disorder
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3

Criteria Provided
Conflicting Classifications

CA130954

rs_398123018

11 SubmittersRCV000034863 RCV000588014 RCV001239040 RCV003129761 RCV004534729 RCV004786293

NM_001283009.2(RTEL1):c.3730T>C (p.Cys1244Arg)

SNV
Germline

Chr20:63695558

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA144777

rs_587777037

6 SubmittersRCV000055634 RCV002464103 RCV002513726 RCV003258663

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

Criteria Provided
Conflicting Classifications

CA144783

rs_398123050

5 SubmittersRCV000055637 RCV005222735

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

Criteria Provided
Multiple Submitters
No Conflicts

CA144786

rs_373740199

17 SubmittersRCV000055639 RCV000502656 RCV000336673 RCV000665130 RCV000703852 RCV002509196 RCV004537250

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

Criteria Provided
Conflicting Classifications

CA178124

rs_181612536

14 SubmittersRCV000151993 RCV000313027 RCV000399240 RCV000366513 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
Pulmonary fibrosis
Dyskeratosis congenita, autosomal recessive 6
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10575708

rs_876661305

4 SubmittersRCV000170590 RCV002509273 RCV003765062 RCV001311427

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
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA205223

rs_797045923

4 SubmittersRCV000192413 RCV000670442 RCV001475667 RCV005268569

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

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

Criteria Provided
Conflicting Classifications

CA210095

rs_146221660

8 SubmittersRCV000201575 RCV000666023 RCV001309992 RCV001833164 RCV004530203 RCV003329259 RCV004589868

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

SNV
Germline

Chr20:63687936

Pathogenic/Likely pathogenic

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

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

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
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
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA3184905

rs_375423906

4 SubmittersRCV000218700 RCV001152948 RCV001152947 RCV001155583 RCV002517511 RCV004558465

NM_018648.4(NOP10):c.34G>C (p.Asp12His)

SNV
Germline

Chr15:34343040

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Dyskeratosis congenita, autosomal recessive 1
Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9

Criteria Provided
Conflicting Classifications

CA7464815

rs_146261631

9 SubmittersRCV000224102 RCV000503008 RCV001084193 RCV005409634

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.3257G>A (p.Arg1086His)

SNV
Germline

Chr5:1254406

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3184242

rs_200288187

10 SubmittersRCV001820783 RCV002518382 RCV003126647 RCV003469173 RCV004822025 RCV005031821 RCV004734892

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

SNV
Germline

Chr5:1258639

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

Criteria Provided
Conflicting Classifications

CA3184323

rs_376266401

6 SubmittersRCV001156515 RCV001154848 RCV001154849 RCV001820782 RCV002255342 RCV003316312 RCV003103748 RCV005235201

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

SNV
Germline

Chr5:1258669

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10582350

rs_878855303

4 SubmittersRCV001820781 RCV003237799 RCV002519813 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
Acute myeloid leukemia
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Conflicting Classifications

CA3184401

rs_200174990

7 SubmittersRCV000499661 RCV000732368 RCV002256178 RCV003316311 RCV002518377

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

Criteria Provided
Conflicting Classifications

CA3184667

rs_765264494

5 SubmittersRCV000503916 RCV001151517 RCV001151518 RCV001154529 RCV002518373 RCV003437032 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
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Conflicting Classifications

CA3184671

rs_151055240

13 SubmittersRCV000250893 RCV000273101 RCV000302865 RCV000357715 RCV001529280 RCV004558593 RCV002518372

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
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
TERT-related disorder
Melanoma, cutaneous malignant, susceptibility to, 9

Criteria Provided
Conflicting Classifications

CA3184691

rs_758494245

7 SubmittersRCV000987500 RCV001155364 RCV001155365 RCV001155363 RCV002255340 RCV002518370 RCV004532972 RCV005235200

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

SNV
Germline

Chr5:1280172

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3184723

rs_147521473

8 SubmittersRCV001820780 RCV001775705 RCV002256176 RCV004734890 RCV002518369 RCV003469172

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

SNV
Germline

Chr5:1293550

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3184855

rs_567650961

8 SubmittersRCV001356732 RCV002255339 RCV002518367 RCV003151000 RCV004532971

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

SNV
Germline

Chr5:1293555

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10582362

rs_878855299

4 SubmittersRCV001292603 RCV002518366 RCV004558590 RCV003325475

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
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Malignant tumor of urinary bladder
Neoplasm
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA10582367

rs_878855297

9 SubmittersRCV000034312 RCV001820777 RCV002519807 RCV003475834 RCV003332157 RCV004668870 RCV004822022

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
Cerebroretinal microangiopathy with calcifications and cysts 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8372049

rs_200643329

8 SubmittersRCV000231025 RCV000501561 RCV001807147 RCV001573147

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

SNV
Germline

Chr5:1280259

Conflicting classifications of pathogenicity

not specified
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
Condition: not provided
Acute myeloid leukemia
Dyskeratosis congenita
Melanoma, cutaneous malignant, susceptibility to, 9

Criteria Provided
Conflicting Classifications

CA3184742

rs_140951453

8 SubmittersRCV000244189 RCV000287182 RCV000372475 RCV000336462 RCV002518668 RCV001580477 RCV003316456 RCV004558609 RCV005235242

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

SNV
Germline

Chr5:1282413

Conflicting classifications of pathogenicity

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

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

Criteria Provided
Conflicting Classifications

CA3184895

rs_778187343

7 SubmittersRCV000283392 RCV000322037 RCV000378796 RCV000503276 RCV000765804 RCV001820800 RCV002305476 RCV002518795 RCV004822030

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

SNV
Germline

Chr5:1294840

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3184396

rs_370292237

3 SubmittersRCV000285766 RCV000376627 RCV000343040 RCV004558620 RCV002520298

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
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

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

Criteria Provided
Conflicting Classifications

CA3185020

rs_573817924

9 SubmittersRCV000266345 RCV000324023 RCV000357781 RCV000613962 RCV002520305 RCV001528455 RCV004544655 RCV004559045 RCV005625560

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
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
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

Condition: not provided
Dyskeratosis congenita
NHP2-related disorder
not specified
Dyskeratosis congenita, autosomal recessive 2

Criteria Provided
Conflicting Classifications

CA3589267

rs_376220034

6 SubmittersRCV001702437 RCV000469686 RCV003972482 RCV001821077 RCV005230272

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

Criteria Provided
Conflicting Classifications

CA3184275

rs_373400596

7 SubmittersRCV000309581 RCV000344253 RCV002509370 RCV000398654 RCV001815383 RCV002255372 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
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
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
not specified
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3184933

rs_35837567

5 SubmittersRCV000312452 RCV000355603 RCV000403911 RCV004558621 RCV005434861 RCV002520303 RCV004721340

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

Criteria Provided
Conflicting Classifications

CA3184953

rs_11952056

9 SubmittersRCV000296917 RCV000354116 RCV002520304 RCV003137968 RCV004530415 RCV000404356 RCV001821075 RCV002257653 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

4 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
not specified

Criteria Provided
Conflicting Classifications

CA7130763

rs_367835995

5 SubmittersRCV000293979 RCV000346506 RCV001042861 RCV003235188 RCV005230243

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

Cerebroretinal microangiopathy with calcifications and cysts 1
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA8372081

rs_200759730

3 SubmittersRCV001807221 RCV001062476

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

SNV
Germline

Chr17:8234545

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8372269

rs_78320653

8 SubmittersRCV000503687 RCV000634522 RCV001753785 RCV003912360 RCV001807228

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

6 SubmittersRCV000544541 RCV003418031 RCV001807227

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

SNV
Germline

Chr17:8237504

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8372572

rs_138725914

5 SubmittersRCV001807231 RCV000634512 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
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA8355249

rs_138784430

3 SubmittersRCV000303391 RCV001445333 RCV004822034

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

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

Criteria Provided
Conflicting Classifications

CA8371952

rs_373530008

6 SubmittersRCV001820982 RCV001807219 RCV005243198 RCV000861919

NM_025099.6(CTC1):c.1819-14T>G

SNV
Germline

Chr17:8233046

Conflicting classifications of pathogenicity

Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA8372248

rs_753627056

2 SubmittersRCV000279773

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

SNV
Germline

Chr17:8238063

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8372600

rs_571035242

6 SubmittersRCV001807232 RCV003418032 RCV003950112 RCV000500419 RCV000863925

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
Congenital cerebellar hypoplasia
Dyskeratosis congenita, X-linked
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA16608850

rs_1057520719

5 SubmittersRCV000442656 RCV001257984 RCV000779660 RCV003530047

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

SNV
Germline

Chr5:1278786

Conflicting classifications of pathogenicity

Condition: not provided
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

CA3184642

rs_772441504

5 SubmittersRCV003233642 RCV003150818 RCV003150819 RCV002525587 RCV004559084

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

SNV
Germline

Chr5:1279410

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16611699

rs_1060503011

8 SubmittersRCV002509394 RCV002264699 RCV002523341 RCV001508166 RCV001753903 RCV003325407 RCV004559086

NM_198253.3(TERT):c.3164C>T (p.Ser1055Leu)

SNV
Germline

Chr5:1254499

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3184255

rs_201330213

4 SubmittersRCV002525586 RCV003470475 RCV001753902 RCV005286091

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

SNV
Germline

Chr5:1280177

Conflicting classifications of pathogenicity

Dyskeratosis congenita
Chronic obstructive pulmonary disease
Chronic diarrhea
Decreased circulating immunoglobulin concentration
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

7 SubmittersRCV004822060 RCV002244939 RCV002307507 RCV002506127 RCV002526430 RCV004539953 RCV003463952

NM_198253.3(TERT):c.403G>A (p.Gly135Arg)

SNV
Germline

Chr5:1294483

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3184986

rs_200843534

7 SubmittersRCV001821284 RCV003318581 RCV001331997 RCV005286090 RCV002523330

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

SNV
Germline

Chr5:1271122

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3184512

rs_757820442

3 SubmittersRCV004568061 RCV002523340 RCV005286096

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

SNV
Germline

Chr5:1279281

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3184663

rs_373879259

6 SubmittersRCV000502349 RCV001151516 RCV001151514 RCV001151515 RCV002526490 RCV001536535 RCV004541500 RCV004559102

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

Criteria Provided
Conflicting Classifications

CA3184695

rs_778496417

7 SubmittersRCV001157052 RCV001157053 RCV001157054 RCV002257755 RCV002525684 RCV001821371 RCV003431033 RCV004541497

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

SNV
Germline

Chr5:1294213

Conflicting classifications of pathogenicity

Dyskeratosis congenita
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Conflicting Classifications

CA16611921

rs_1060502999

2 SubmittersRCV004559076 RCV003103781

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

SNV
Germline

Chr14:24240119

Conflicting classifications of pathogenicity

Dyskeratosis congenita
not specified
TINF2-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7130468

rs_192423622

5 SubmittersRCV000465078 RCV001821320 RCV003970312 RCV004721382

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

SNV
Germline

Chr17:8234553

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8372273

rs_200440641

8 SubmittersRCV000469334 RCV000500603 RCV001807256 RCV001551204 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_001099274.3(TINF2):c.796C>T (p.Arg266Ter)

SNV
Germline

Chr14:24240684

Conflicting classifications of pathogenicity

Condition: not provided
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA16619855

rs_1064795632

2 SubmittersRCV000481021 RCV005090958

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_001566.3(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_001566.3(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
TERT-related disorder
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Conflicting Classifications

CA359076368

rs_1554040129

4 SubmittersRCV000500578 RCV004535624 RCV003766854 RCV005245499

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.2227C>T (p.Arg743Trp)

SNV
Germline

Chr5:1278700

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA359079200

rs_1388515349

5 SubmittersRCV000503102 RCV002527300 RCV001508163 RCV005245500

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
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Conflicting Classifications

CA3184839

rs_746216837

3 SubmittersRCV000502511 RCV004822081 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
Inborn genetic diseases
Dyskeratosis congenita, autosomal dominant 6
Condition: not provided
ACD-related disorder

Criteria Provided
Conflicting Classifications

CA8114847

rs_149365469

10 SubmittersRCV000503600 RCV003243155 RCV000694462 RCV001702497 RCV003962366

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

SNV
Germline

Chr17:8228229

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8371698

rs_778830884

4 SubmittersRCV000500962 RCV001807274 RCV000818931 RCV004023367

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

SNV
Germline

Chr17:8228896

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8371823

rs_562479062

4 SubmittersRCV000502629 RCV000869171 RCV001807272 RCV003900040

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

SNV
Germline

Chr17:8238464

Conflicting classifications of pathogenicity

not specified
Cerebroretinal microangiopathy with calcifications and cysts 1
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA8372648

rs_770555372

3 SubmittersRCV000502493 RCV001807271 RCV001415273

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

SNV
Germline

Chr17:8243035

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8372704

rs_201492796

10 SubmittersRCV000504067 RCV001807273 RCV000530550 RCV001531253 RCV003960159

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

SNV
Germline

Chr17:8248024

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8372764

rs_201280372

6 SubmittersRCV000501146 RCV001172451 RCV000634521 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 and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita, autosomal recessive 5
Pulmonary fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA409674081

rs_1555903332

4 SubmittersRCV000503881 RCV001172446 RCV003766850 RCV002509415

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

Criteria Provided
Conflicting Classifications

CA9965429

rs_144002969

8 SubmittersRCV000501006 RCV000695080 RCV000673277 RCV004691811 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

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

Criteria Provided
Conflicting Classifications

CA9965693

rs_373210484

8 SubmittersRCV000765496 RCV002446980 RCV004535619 RCV000503523 RCV001272192

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

SNV
Germline

Chr20:63695103

Conflicting classifications of pathogenicity

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

CA3184569

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

Criteria Provided
Conflicting Classifications

CA3184587

rs_561426406

9 SubmittersRCV000677347 RCV000765795 RCV001821447 RCV001755759 RCV002525004 RCV003476211 RCV004535664 RCV004822082

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

Criteria Provided
Conflicting Classifications

CA3184681

rs_776981958

4 SubmittersRCV000677345 RCV001508165 RCV004701581 RCV005208586

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

SNV
Unknown

ChrX:154765938

Pathogenic

Dyskeratosis congenita, X-linked

Criteria Provided
Single Submitter

CA414889375

rs_1557264102

1 SubmittersRCV000677353

NR_001566.3(TERC):n.319G>A

SNV
Germline

Chr3:169764742

Likely pathogenic

Condition: not provided
Dyskeratosis congenita, autosomal dominant 1

Criteria Provided
Multiple Submitters
No Conflicts

CA436715060

rs_1553915590

2 SubmittersRCV000521266 RCV005252940

NC_000003.12:g.169764933T>C

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_025099.6(CTC1):c.3532C>T (p.Arg1178Ter)

SNV
Germline

Chr17:8228302

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8371718

rs_200919310

4 SubmittersRCV000520835 RCV001204312 RCV001807291

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

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

Criteria Provided
Conflicting Classifications

CA3184461

rs_751752830

5 SubmittersRCV001153600 RCV001153601 RCV001153599 RCV005235408 RCV005243285 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.550G>A (p.Ala184Thr)

SNV
Germline

Chr5:1294336

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3184960

rs_773758089

4 SubmittersRCV002530169 RCV003105956 RCV005278599

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
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA3184610

rs_768062052

3 SubmittersRCV002530135 RCV004543198 RCV005502837

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
Dyskeratosis congenita
Condition: not provided
TERT-related disorder

Criteria Provided
Conflicting Classifications

CA3184631

rs_753929279

4 SubmittersRCV002530130 RCV004559189 RCV003228951 RCV004538046

NM_198253.3(TERT):c.1951-5G>A

SNV
Germline

Chr5:1279475

Conflicting classifications of pathogenicity

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA3184701

rs_770214413

2 SubmittersRCV002530113 RCV005502834

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

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

Criteria Provided
Conflicting Classifications

CA3184746

rs_776763536

3 SubmittersRCV002530109 RCV003431098 RCV004559181

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

SNV
Germline

Chr5:1294107

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3184914

rs_148798048

8 SubmittersRCV002255455 RCV003333079 RCV004735620 RCV005034105 RCV002260647 RCV002530175

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

SNV
Germline

Chr5:1294797

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3185021

rs_544215765

7 SubmittersRCV001254604 RCV002530117 RCV003236816 RCV002256385

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

SNV
Germline

Chr5:1260559

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3184350

rs_759490631

3 SubmittersRCV004559205 RCV003230269 RCV002530154

NM_198253.3(TERT):c.2702G>A (p.Arg901Gln)

SNV
Germline

Chr5:1264545

Conflicting classifications of pathogenicity

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Melanoma, cutaneous malignant, susceptibility to, 9
Acute myeloid leukemia
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA3184413

rs_772974254

3 SubmittersRCV002530149 RCV005034103 RCV005278597

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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA112938010

rs_532158398

3 SubmittersRCV002530148 RCV004559201 RCV004772985

NM_198253.3(TERT):c.2221G>A (p.Val741Met)

SNV
Germline

Chr5:1278706

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3184622

rs_150819225

6 SubmittersRCV000768106 RCV002530132 RCV003470765 RCV001559069 RCV004559190

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

SNV
Germline

Chr5:1279464

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3184698

rs_372272356

3 SubmittersRCV005502835 RCV002530120 RCV003470764

NM_198253.3(TERT):c.1914C>T (p.Tyr638=)

SNV
Germline

Chr5:1280194

Conflicting classifications of pathogenicity

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA3184734

rs_541931572

2 SubmittersRCV003103807 RCV005286129

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

SNV
Germline

Chr5:1253825

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3184216

rs_764602705

5 SubmittersRCV002530163 RCV002256386 RCV002307542

NM_198253.3(TERT):c.2744G>A (p.Gly915Asp)

SNV
Germline

Chr5:1264503

Conflicting classifications of pathogenicity

TERT-related disorder
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Melanoma, cutaneous malignant, susceptibility to, 9
Acute myeloid leukemia
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA3184405

rs_202033269

5 SubmittersRCV004543199 RCV001788284 RCV002530150 RCV005034104 RCV005278598

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

SNV
Germline

Chr5:1266466

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3184439

rs_374309472

3 SubmittersRCV002530147 RCV001770465 RCV004559200

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

SNV
Germline

Chr5:1293617

Conflicting classifications of pathogenicity

Aplastic anemia
not specified
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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3184862

rs_190411812

5 SubmittersRCV001155486 RCV001821573 RCV001155485 RCV001155487 RCV002530096 RCV004559172 RCV003992323

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

SNV
Germline

Chr5:1294048

Conflicting classifications of pathogenicity

Interstitial lung disease 2
not specified
Condition: not provided
Dyskeratosis congenita
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Acute myeloid leukemia
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Melanoma, cutaneous malignant, susceptibility to, 9

Criteria Provided
Conflicting Classifications

CA3184904

rs_199701877

10 SubmittersRCV000987502 RCV001821580 RCV001576510 RCV002255456 RCV002530177 RCV003316717 RCV004760588 RCV005235410

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

SNV
Germline

Chr5:1294241

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3184937

rs_768426236

7 SubmittersRCV001157267 RCV001821579 RCV001157266 RCV001157268 RCV001529708 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
Inborn genetic diseases
not specified
Cerebroretinal microangiopathy with calcifications and cysts 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8372315

rs_199698527

5 SubmittersRCV000538568 RCV002527700 RCV001821518 RCV001839012 RCV005054216

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

SNV
Germline

Chr17:8238081

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8372602

rs_373023392

6 SubmittersRCV000541269 RCV001807296 RCV001821520 RCV003419929

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

SNV
Germline

Chr17:8243157

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8372726

rs_201195157

5 SubmittersRCV000547685 RCV001569942 RCV001172447

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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8372213

rs_775779700

5 SubmittersRCV000533572 RCV000764155 RCV004791527

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

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
Dyskeratosis congenita, autosomal recessive 5
Inborn genetic diseases
Dyskeratosis congenita
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9964547

rs_113684274

9 SubmittersRCV000536702 RCV001007595 RCV000990339 RCV002404541 RCV001829595 RCV003480684

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

SNV
Germline

ChrX:154764902

Conflicting classifications of pathogenicity

Condition: not provided
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA10566951

rs_782343800

2 SubmittersRCV000733974 RCV001078718

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

Criteria Provided
Conflicting Classifications

CA3184345

rs_765566930

6 SubmittersRCV000604673 RCV000855405 RCV002529360 RCV005409684

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
TERT-related disorder
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA3184291

rs_377419542

3 SubmittersRCV002533393 RCV004533396 RCV004559292

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
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Conflicting Classifications

CA359074714

rs_1554039733

3 SubmittersRCV001156212 RCV001156210 RCV001156211 RCV004559304 RCV002533405

NM_198253.3(TERT):c.2005C>T (p.Arg669Trp)

SNV
Germline

Chr5:1279416

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Melanoma, cutaneous malignant, susceptibility to, 9
Acute myeloid leukemia
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA3184690

rs_372140951

3 SubmittersRCV002530510 RCV005034217 RCV005286159

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

Criteria Provided
Conflicting Classifications

CA359080888

rs_1228165704

5 SubmittersRCV002533379 RCV002485456 RCV003472038 RCV003153788 RCV004559285

NM_198253.3(TERT):c.1917C>T (p.Val639=)

SNV
Germline

Chr5:1280191

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3184731

rs_142989562

4 SubmittersRCV001816615 RCV005502867 RCV002533407 RCV004544887

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

SNV
Germline

Chr5:1260560

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3184351

rs_144697790

4 SubmittersRCV005286161 RCV002533382 RCV003228970 RCV004568447

NM_198253.3(TERT):c.2383-5C>T

SNV
Germline

Chr5:1271209

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA3184528

rs_373488315

2 SubmittersRCV002531929 RCV005286164

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

4 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
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA3184415

rs_559028617

3 SubmittersRCV002533383 RCV004533394 RCV005502866

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
Dyskeratosis congenita, autosomal dominant 2
TERT-related disorder
Condition: not provided
Dyskeratosis congenita
Dyskeratosis congenita, autosomal dominant 2
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Melanoma, cutaneous malignant, susceptibility to, 9
Acute myeloid leukemia

Criteria Provided
Conflicting Classifications

CA3184463

rs_144779807

7 SubmittersRCV002533386 RCV004568449 RCV004544885 RCV004702245 RCV004822145 RCV005034218

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
TERT-related disorder
Condition: not provided
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA3184848

rs_758110675

5 SubmittersRCV000765803 RCV002533376 RCV004544884 RCV003236829 RCV005502865

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

8 SubmittersRCV001293960 RCV002307574 RCV002477438 RCV002533384 RCV004533395 RCV004559287

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

SNV
Germline

Chr5:1294135

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3184920

rs_776569822

3 SubmittersRCV003328616 RCV003103822 RCV005286163

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
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA3184954

rs_781435225

5 SubmittersRCV001334733 RCV002533389 RCV003325507 RCV005492857

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

SNV
Germline

Chr16:14446909

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7911921

rs_368440052

4 SubmittersRCV001756104 RCV000653142 RCV004547823 RCV004957966

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

SNV
Germline

Chr16:67658960

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8114609

rs_139438549

6 SubmittersRCV000652840 RCV001816641 RCV003953202 RCV003237977

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

Dyskeratosis congenita
Cerebroretinal microangiopathy with calcifications and cysts 1

Criteria Provided
Multiple Submitters
No Conflicts

CA8371986

rs_200609323

3 SubmittersRCV000634497 RCV000763024

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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8372697

rs_764616648

5 SubmittersRCV000634507 RCV001807312 RCV004808812

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
Cerebroretinal microangiopathy with calcifications and cysts 1

Criteria Provided
Conflicting Classifications

CA8372209

rs_534923467

3 SubmittersRCV000634504 RCV004025447 RCV005027748

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
RTEL1-related disorder
Condition: not provided
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA9965365

rs_150461578

8 SubmittersRCV000651133 RCV004533410 RCV001092639 RCV002257910

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

SNV
Germline

Chr20:63662886

Pathogenic

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

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

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

Criteria Provided
Conflicting Classifications

CA9965497

rs_141717966

4 SubmittersRCV000651138 RCV002257911 RCV003327441 RCV003151123

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

SNV
Germline

Chr20:63678268

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9964545

rs_143550996

6 SubmittersRCV000651112 RCV001276035 RCV001564499 RCV003151119

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

SNV
Germline

Chr5:1280265

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA112950366

rs_112614087

5 SubmittersRCV000659010 RCV001816660 RCV002534308 RCV005492861

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

SNV
Germline

Chr20:63678347

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

CA317500289

rs_895722334

4 SubmittersRCV000669234 RCV005034251

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

SNV
Unknown

Chr20:63693004

Likely pathogenic

Dyskeratosis congenita, autosomal recessive 5

Criteria Provided
Single Submitter

CA409683158

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

CA409683257

rs_1470145133

6 SubmittersRCV000669062 RCV001217029 RCV003323669 RCV004535683

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

SNV
Unknown

Chr20:63662472

Likely pathogenic

Dyskeratosis congenita, autosomal recessive 5

Criteria Provided
Single Submitter

CA409669176

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
Single Submitter

CA409676952

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

No Assertion Criteria Provided

CA409670040

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

CA317518604

rs_961593162

5 SubmittersRCV000669629 RCV000763060 RCV004535684

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

SNV
Germline

Chr20:63693172

Pathogenic

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

Criteria Provided
Single Submitter

CA409683229

rs_1555813144

2 SubmittersRCV000666445 RCV003767949

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

SNV
Germline

Chr20:63694761

Pathogenic

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

Criteria Provided
Single Submitter

CA409684807

rs_1415449695

2 SubmittersRCV000667410 RCV001814212

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

SNV
Unknown

Chr20:63695064

Likely pathogenic

Dyskeratosis congenita, autosomal recessive 5

No Assertion Criteria Provided

CA317528960

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
Single Submitter

CA409685309

rs_778734749

2 SubmittersRCV000672496

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

SNV
Unknown

Chr20:63667484

Likely pathogenic

Dyskeratosis congenita, autosomal recessive 5

No Assertion Criteria Provided

CA409670647

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

Criteria Provided
Multiple Submitters
No Conflicts

CA9964386

rs_780546933

5 SubmittersRCV000674750 RCV001855614

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

SNV
Germline

Chr20:63690205

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

CA409680018

rs_377024903

3 SubmittersRCV000667829 RCV001384643

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

SNV
Unknown

Chr20:63690212

Likely pathogenic

Dyskeratosis congenita, autosomal recessive 5

No Assertion Criteria Provided

CA409680039

rs_1555811966

1 SubmittersRCV000671417

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

SNV
Unknown

Chr20:63690803

Likely pathogenic

Dyskeratosis congenita, autosomal recessive 5

No Assertion Criteria Provided

CA409681337

rs_1555812178

1 SubmittersRCV000672386

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

SNV
Unknown

Chr20:63692803

Likely pathogenic

Dyskeratosis congenita, autosomal recessive 5

No Assertion Criteria Provided

CA409682765

rs_1555812834

1 SubmittersRCV000674721

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

SNV
Germline

Chr20:63694739

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

CA9965874

rs_377461417

6 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

CA317527988

rs_377461417

4 SubmittersRCV000667028 RCV001210219 RCV001829840

NM_001283009.2(RTEL1):c.3559C>T (p.Gln1187Ter)

SNV
Germline

Chr20:63695387

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA409685710

rs_776525427

3 SubmittersRCV000677222 RCV005223117 RCV005034283

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

CA359085573

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

CA3184929

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
Dyskeratosis congenita
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Conflicting Classifications

CA3184959

rs_770436206

3 SubmittersRCV003388593 RCV004559353 RCV002544769

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

CA359058906

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

CA3589279

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

CA359073326

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
not specified

Criteria Provided
Conflicting Classifications

CA3184519

rs_552708120

3 SubmittersRCV002533539 RCV003222108 RCV004586888

NM_198253.3(TERT):c.2012G>A (p.Arg671Gln)

SNV
Germline

Chr5:1279409

Conflicting classifications of pathogenicity

Dyskeratosis congenita
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Melanoma, cutaneous malignant, susceptibility to, 9
Acute myeloid leukemia

Criteria Provided
Conflicting Classifications

CA3184687

rs_774381540

3 SubmittersRCV005278643 RCV002533651 RCV005046959

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

CA3184880

rs_773366454

2 SubmittersRCV002547117 RCV004559356

NM_198253.3(TERT):c.577C>A (p.Pro193Thr)

SNV
Germline

Chr5:1294309

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA359057366

rs_1271112115

2 SubmittersRCV002534408 RCV004822183

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

SNV
Germline

Chr5:1255328

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA3184282

rs_763381198

3 SubmittersRCV002531489 RCV002256472

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
Condition: not provided
Dyskeratosis congenita, autosomal dominant 2
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Melanoma, cutaneous malignant, susceptibility to, 9
Acute myeloid leukemia

Criteria Provided
Conflicting Classifications

CA3184615

rs_576633619

6 SubmittersRCV001151511 RCV001151512 RCV001151513 RCV001816702 RCV002547120 RCV004777822 RCV005034294

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

CA112915226

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

CA7912411

rs_200103366

5 SubmittersRCV000689559 RCV001816705 RCV001335956 RCV003420224

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

SNV
Germline

Chr17:8229409

Pathogenic

Dyskeratosis congenita

Criteria Provided
Single Submitter

CA397972329

rs_1567599296

1 SubmittersRCV000699292

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

SNV
Germline

Chr17:8235851

Pathogenic/Likely pathogenic

Dyskeratosis congenita
Cerebroretinal microangiopathy with calcifications and cysts 1

Criteria Provided
Multiple Submitters
No Conflicts

CA8372440

rs_764019241

2 SubmittersRCV000699564 RCV005021087

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

SNV
Germline

ChrX:154765508

Likely pathogenic

Dyskeratosis congenita

Criteria Provided
Single Submitter

CA414888963

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

CA10567056

rs_374771308

2 SubmittersRCV000687325

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

SNV
Germline

Chr17:8238550

Pathogenic

Dyskeratosis congenita

Criteria Provided
Single Submitter

CA8372660

rs_767991627

1 SubmittersRCV000704293

NM_001283009.2(RTEL1):c.3463G>A (p.Val1155Met)

SNV
Germline

Chr20:63695185

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9966041

rs_149145821

6 SubmittersRCV000706027 RCV001333380 RCV001766561 RCV001825396 RCV002534452

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

CA10567280

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

Criteria Provided
Conflicting Classifications

CA8371699

rs_147714487

11 SubmittersRCV000732314 RCV001330034 RCV001816802 RCV001081646 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

CA427568950

rs_1306444586

1 SubmittersRCV000761361

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

SNV
Germline

Chr20:63672588

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA511371586

rs_919917378

3 SubmittersRCV005268744 RCV000768303

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

CA636615267

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

CA8371947

rs_199473678

8 SubmittersRCV000778131 RCV001560718 RCV001869130

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

SNV
Germline

Chr5:1264408

Pathogenic

Dyskeratosis congenita

No Assertion Criteria Provided

CA359071372

rs_915854031

1 SubmittersRCV000786862

NM_001283009.2(RTEL1):c.3075C>T (p.Gly1025=)

SNV
Germline

Chr20:63694454

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
not specified

Criteria Provided
Conflicting Classifications

CA9965823

rs_766455566

7 SubmittersRCV000788886 RCV001057104 RCV001273630 RCV004538085 RCV005240570

NM_022836.4(DCLRE1B):c.946G>A (p.Val316Met)

SNV
Germline

Chr1:113911538

Conflicting classifications of pathogenicity

Autosomal recessive dyskeratosis congenita
Hoyeraal-Hreidarsson syndrome
not specified

Criteria Provided
Conflicting Classifications

CA1016498

rs_749431578

2 SubmittersRCV000798393 RCV005318528

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

SNV
Germline

Chr5:1253781

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA359066706

rs_1196160200

3 SubmittersRCV004559670 RCV002534659 RCV004540104

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

SNV
Germline

Chr5:1253804

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3184213

rs_376255453

4 SubmittersRCV001152717 RCV001152718 RCV002534874 RCV001152719 RCV003233860

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

SNV
Germline

Chr5:1253817

Conflicting classifications of pathogenicity

Dyskeratosis congenita
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Conflicting Classifications

CA359066865

rs_1579541768

2 SubmittersRCV004559675 RCV002534746

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

SNV
Germline

Chr5:1254476

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA112923449

rs_938938578

4 SubmittersRCV002509553 RCV002508262 RCV002534853 RCV004569706

NM_198253.3(TERT):c.3103G>A (p.Val1035Ile)

SNV
Germline

Chr5:1255341

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3184284

rs_374968697

3 SubmittersRCV003480856 RCV002538104 RCV005278670

NM_198253.3(TERT):c.2813G>A (p.Arg938Gln)

SNV
Germline

Chr5:1264434

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3184390

rs_199741493

5 SubmittersRCV001293959 RCV002536010 RCV003222148 RCV004538131 RCV005502928

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

CA3184516

rs_778051907

3 SubmittersRCV002534756 RCV004559676 RCV004569603

NM_198253.3(TERT):c.2368G>A (p.Val790Ile)

SNV
Germline

Chr5:1272199

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3184556

rs_371413388

4 SubmittersRCV002537395 RCV004723230 RCV005245506 RCV005286228

NM_198253.3(TERT):c.2251G>A (p.Ala751Thr)

SNV
Germline

Chr5:1278676

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3184619

rs_772070672

4 SubmittersRCV002535995 RCV003325525 RCV004569783 RCV004559704

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

SNV
Germline

Chr5:1278679

Conflicting classifications of pathogenicity

Dyskeratosis congenita
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Conflicting Classifications

CA359078996

rs_1579574831

2 SubmittersRCV004559700 RCV002535502

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

SNV
Germline

Chr5:1278706

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3184623

rs_150819225

4 SubmittersRCV001816876 RCV004569650 RCV002537289 RCV004773174

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

SNV
Germline

Chr5:1279313

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3184670

rs_564647937

3 SubmittersRCV001250511 RCV004559695 RCV002537414

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

SNV
Germline

Chr5:1279316

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3184672

rs_754809046

4 SubmittersRCV002509550 RCV002538055 RCV004702438 RCV005036181

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

CA359080310

rs_1579575848

1 SubmittersRCV002535497

NM_198253.3(TERT):c.2020G>A (p.Gly674Ser)

SNV
Germline

Chr5:1279401

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3184684

rs_773813809

3 SubmittersRCV004783864 RCV003103841 RCV005286216

NM_198253.3(TERT):c.2009C>T (p.Ala670Val)

SNV
Germline

Chr5:1279412

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3184689

rs_767382450

4 SubmittersRCV002534823 RCV004789207 RCV004588270 RCV005502910

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

CA359081681

rs_1579577192

2 SubmittersRCV002534884 RCV003229867

NM_198253.3(TERT):c.1853C>T (p.Thr618Met)

SNV
Germline

Chr5:1280255

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3184741

rs_746434205

3 SubmittersRCV004773177 RCV002537316 RCV005286222

NM_198253.3(TERT):c.1737T>A (p.Ser579Arg)

SNV
Germline

Chr5:1282461

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA359082885

rs_1395379702

2 SubmittersRCV002534724 RCV004559673

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

SNV
Germline

Chr5:1282506

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA112951893

rs_377217777

4 SubmittersRCV005286221 RCV002538048 RCV003432774 RCV004528305

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

SNV
Germline

Chr5:1293334

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3184828

rs_551522837

4 SubmittersRCV003103847 RCV002256553 RCV004761835

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

CA359085571

rs_1561213355

1 SubmittersRCV002538152

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

SNV
Germline

Chr5:1293563

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA359086196

rs_1213914911

2 SubmittersRCV002534602 RCV004559663

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
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA3184894

rs_756624928

3 SubmittersRCV002477800 RCV002536948 RCV004822198

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

CA3184923

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

CA3184926

rs_751231538

2 SubmittersRCV002535469 RCV004559698

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

SNV
Germline

Chr5:1294198

Pathogenic

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Single Submitter

CA359057024

rs_989271195

1 SubmittersRCV002538017

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

SNV
Germline

Chr5:1294319

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3184955

rs_747935528

4 SubmittersRCV002538019 RCV005047074 RCV003332255 RCV004559667

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

SNV
Germline

Chr5:1294320

Conflicting classifications of pathogenicity

Dyskeratosis congenita
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Conflicting Classifications

CA3184956

rs_769638625

2 SubmittersRCV004559691 RCV002537390

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
Dyskeratosis congenita, autosomal dominant 3
Revesz syndrome

Criteria Provided
Conflicting Classifications

CA7130412

rs_369249473

4 SubmittersRCV000819774 RCV001109555 RCV001109556 RCV005004449

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

SNV
Germline

Chr17:8230399

Conflicting classifications of pathogenicity

Dyskeratosis congenita
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8371959

rs_376216833

3 SubmittersRCV000794761 RCV004692262

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

CA8372126

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

CA8372127

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

CA8372540

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

CA8372641

rs_200137992

3 SubmittersRCV000820755 RCV001270120

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

SNV
Germline

Chr20:63685825

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9964727

rs_77086616

11 SubmittersRCV000795835 RCV000990340 RCV001508902 RCV001835962 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

CA9965653

rs_199834369

6 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

CA9965656

rs_369716125

4 SubmittersRCV000807655 RCV001273628 RCV004028621

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

SNV
Germline

Chr20:63695144

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
not specified

Criteria Provided
Conflicting Classifications

CA9966025

rs_201682415

6 SubmittersRCV000815059 RCV001560182 RCV003307522 RCV003489905

NM_198253.3(TERT):c.2383-5C>G

SNV
Germline

Chr5:1271209

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA3184527

rs_373488315

2 SubmittersRCV002539945 RCV005492891

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

CA7912342

rs_368739970

2 SubmittersRCV000808913 RCV001816878

NM_001283009.2(RTEL1):c.538+3A>G

SNV
Germline

Chr20:63662892

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
not specified
RTEL1-related disorder

Criteria Provided
Conflicting Classifications

CA9964312

rs_201706459

7 SubmittersRCV000807168 RCV002261222 RCV002534836 RCV001275075 RCV005436070 RCV004538107

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

SNV
Germline

Chr5:1282608

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA443026059

rs_1396912668

3 SubmittersRCV000826056 RCV003768563 RCV004822239

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

SNV
Germline

ChrX:154774613

Conflicting classifications of pathogenicity

Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA10567181

rs_369066088

2 SubmittersRCV001440717

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

SNV
Germline

Chr5:1254396

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3184240

rs_759883263

6 SubmittersRCV002256570 RCV001816988 RCV002539055 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

CA8371758

rs_369209127

3 SubmittersRCV000866336 RCV001807366

NM_025099.6(CTC1):c.1748G>A (p.Ser583Asn)

SNV
Germline

Chr17:8234525

Conflicting classifications of pathogenicity

Dyskeratosis congenita
Cerebroretinal microangiopathy with calcifications and cysts 1

Criteria Provided
Conflicting Classifications

CA8372266

rs_568980956

2 SubmittersRCV000870439 RCV005225172

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

CA8372756

rs_749818659

3 SubmittersRCV000865988 RCV001448256 RCV001807365

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

SNV
Germline

Chr5:1268642

Conflicting classifications of pathogenicity

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA3184489

rs_764029536

2 SubmittersRCV002538978 RCV002258012

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

CA8372217

rs_369285521

3 SubmittersRCV001122624 RCV001807367

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

SNV
Germline

Chr5:1278740

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3184630

rs_200819224

4 SubmittersRCV001817036 RCV002539221 RCV004530847 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

CA8372320

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
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA3184221

rs_371015305

3 SubmittersRCV001817041 RCV002540025 RCV005278685

NM_198253.3(TERT):c.2451C>T (p.Ala817=)

SNV
Germline

Chr5:1271136

Conflicting classifications of pathogenicity

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA3184515

rs_752794198

2 SubmittersRCV005208898 RCV005492910

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
Dyskeratosis congenita
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9964300

rs_142058793

6 SubmittersRCV000966294 RCV001275074 RCV002066393 RCV004029924

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

SNV
Germline

Chr20:63690819

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9965360

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

CA9965551

rs_140986557

6 SubmittersRCV000887579 RCV001277148 RCV002434180 RCV003328638

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

SNV
Germline

Chr20:63692976

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9965560

rs_116247954

5 SubmittersRCV000881683 RCV001830933 RCV004530903 RCV005231934

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

SNV
Germline

Chr20:63659496

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9964085

rs_375849124

3 SubmittersRCV000897034 RCV002372522 RCV002258030

NM_001283009.2(RTEL1):c.2352C>T (p.Phe784=)

SNV
Germline

Chr20:63690380

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9965301

rs_140564753

5 SubmittersRCV000898065 RCV002256587 RCV001277141 RCV004726726 RCV004541868

NM_001283009.2(RTEL1):c.3745G>A (p.Ala1249Thr)

SNV
Germline

Chr20:63695573

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

CA9966173

rs_201237264

2 SubmittersRCV001448339 RCV004958248

NM_001283009.2(RTEL1):c.3803G>C (p.Cys1268Ser)

SNV
Germline

Chr20:63695631

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA409710337

rs_1601200861

3 SubmittersRCV002537600 RCV005268806 RCV004818078

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

CA7911899

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
WRAP53-related disorder

Criteria Provided
Conflicting Classifications

CA8355075

rs_199901527

4 SubmittersRCV000920723 RCV001123320 RCV002372558 RCV004754632

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
WRAP53-related disorder
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA8355383

rs_146651237

5 SubmittersRCV000919316 RCV001125416 RCV003933091 RCV002390916

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

SNV
Germline

Chr5:1255402

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA443020477

rs_1337149388

2 SubmittersRCV003329351 RCV005208888

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

CA8114654

rs_199626332

3 SubmittersRCV000944739 RCV002268374 RCV003456459

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

CA915952073

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

CA9964242

rs_774523585

4 SubmittersRCV000978133 RCV001493570 RCV001832254 RCV004535990

NM_001283009.2(RTEL1):c.3087G>A (p.Leu1029=)

SNV
Germline

Chr20:63694466

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9965827

rs_753147923

5 SubmittersRCV000975341 RCV001832221 RCV002511005 RCV004958340

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

SNV
Germline

Chr20:63695129

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9966016

rs_150686112

5 SubmittersRCV000976461 RCV005054284 RCV001272199 RCV004735920

NM_001363.5(DKC1):c.1350G>C (p.Glu450Asp)

SNV
Germline

ChrX:154776198

Conflicting classifications of pathogenicity

Dyskeratosis congenita
Dyskeratosis congenita, X-linked
Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1

Criteria Provided
Conflicting Classifications

CA414899338

rs_1557265675

2 SubmittersRCV001401399 RCV005047156

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

CA7912343

rs_757910862

3 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

CA636615230

rs_1236751268

2 SubmittersRCV000990341 RCV001490728

NM_002582.4(PARN):c.1006-11G>A

SNV
Germline

Chr16:14584433

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7912192

rs_746114163

4 SubmittersRCV001034580 RCV001862465 RCV005232066

NM_002582.4(PARN):c.620+5G>A

SNV
Germline

Chr16:14609053

Likely pathogenic

Pulmonary fibrosis
Familial Interstitial Pneumonia
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

Criteria Provided
Single Submitter

CA493436240

rs_1971361795

3 SubmittersRCV001034547 RCV003992433 RCV005213449

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

SNV
Germline

Chr5:1254412

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3184244

rs_765787352

3 SubmittersRCV002554514 RCV004559893 RCV004693570

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

SNV
Germline

Chr5:1260592

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3184353

rs_755707625

3 SubmittersRCV002552581 RCV004559859 RCV004768809

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

SNV
Germline

Chr5:1260593

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3184355

rs_370445231

5 SubmittersRCV002253765 RCV004559843 RCV005251242 RCV002551377 RCV004536066

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

SNV
Germline

Chr5:1264543

Pathogenic

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Single Submitter

CA359072163

rs_1748461171

1 SubmittersRCV002554599

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

SNV
Germline

Chr5:1278782

Conflicting classifications of pathogenicity

Dyskeratosis congenita
Melanoma, cutaneous malignant, susceptibility to, 9
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
TERT-related disorder

Criteria Provided
Conflicting Classifications

CA3184639

rs_769467251

5 SubmittersRCV002258103 RCV002290572 RCV002552631 RCV004735937

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

SNV
Germline

Chr5:1279406

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA359080378

rs_1353891039

3 SubmittersRCV002553072 RCV003473622 RCV005286276

NM_198253.3(TERT):c.1949G>A (p.Arg650Lys)

SNV
Germline

Chr5:1280159

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3184719

rs_190125817

4 SubmittersRCV002551474 RCV004726815 RCV005036316 RCV005502976

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

SNV
Germline

Chr5:1282455

Pathogenic

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Single Submitter

CA359082862

rs_1750086002

1 SubmittersRCV003103904

NM_198253.3(TERT):c.1729C>T (p.Arg577Trp)

SNV
Germline

Chr5:1282469

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA359082912

rs_1207489144

2 SubmittersRCV002554525 RCV005250132

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

SNV
Germline

Chr5:1282618

Conflicting classifications of pathogenicity

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA112951997

rs_1006357203

2 SubmittersRCV002555892 RCV004559900

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

SNV
Germline

Chr5:1293448

Conflicting classifications of pathogenicity

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA112957554

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

CA359085649

rs_1751122711

1 SubmittersRCV001045523

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

SNV
Germline

Chr5:1293547

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA359086106

rs_1304418053

3 SubmittersRCV002552511 RCV003467728 RCV005286278

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

SNV
Germline

Chr5:1293910

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA112914808

rs_1030156757

3 SubmittersRCV002298867 RCV002555899 RCV004559901

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

SNV
Germline

Chr5:1294066

Conflicting classifications of pathogenicity

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA359056640

rs_1751200603

2 SubmittersRCV002553844 RCV004559882

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

SNV
Germline

Chr5:1294110

Conflicting classifications of pathogenicity

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA3184917

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

CA7130694

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

CA394808563

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

CA8114434

rs_200293827

2 SubmittersRCV001039741 RCV002391112

NM_025099.6(CTC1):c.3463A>G (p.Ile1155Val)

SNV
Germline

Chr17:8228554

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8371766

rs_571554235

5 SubmittersRCV001043494 RCV001819756 RCV003320793 RCV004973274 RCV005021362

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

SNV
Germline

Chr17:8229929

Pathogenic

Dyskeratosis congenita

Criteria Provided
Single Submitter

CA397973179

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

CA8371929

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
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA8371990

rs_201203345

5 SubmittersRCV001059642 RCV002553867 RCV003963021 RCV004797897 RCV005418977

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

CA397979586

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

CA8372383

rs_201273283

2 SubmittersRCV001060950

NM_025099.6(CTC1):c.917G>A (p.Arg306His)

SNV
Germline

Chr17:8236218

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8372521

rs_567779457

4 SubmittersRCV001068992 RCV001807380 RCV005318607

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

SNV
Germline

Chr17:8238505

Pathogenic

Dyskeratosis congenita

Criteria Provided
Single Submitter

CA8372652

rs_372031509

1 SubmittersRCV001044694

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

SNV
Germline

Chr20:63661909

Pathogenic

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

Criteria Provided
Single Submitter

CA409668736

rs_2090027846

1 SubmittersRCV001049521

NM_001283009.2(RTEL1):c.1346G>A (p.Arg449Gln)

SNV
Germline

Chr20:63685870

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

CA9964741

rs_779873020

3 SubmittersRCV001066494 RCV001275090 RCV004671207

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

SNV
Germline

Chr20:63688149

Pathogenic

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

Criteria Provided
Single Submitter

CA409676994

rs_2090639016

1 SubmittersRCV001037577

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

SNV
Germline

Chr5:1272184

Likely pathogenic

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Single Submitter

CA359076174

rs_1749089374

1 SubmittersRCV002552073

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

CA359073144

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

CA7130722

rs_758462532

2 SubmittersRCV001109637 RCV001109636 RCV002555068

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

SNV
Germline

Chr14:24242303

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7130770

rs_779819186

4 SubmittersRCV001111935 RCV001111934 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

CA8354934

rs_150180394

2 SubmittersRCV001127390 RCV002070083

NM_001143992.2(WRAP53):c.1537C>G (p.Arg513Gly)

SNV
Germline

Chr17:7703376

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal recessive 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8355388

rs_144549494

5 SubmittersRCV001127517 RCV001309979

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

CA8372073

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

CA497959003

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

CA624729577

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

CA8355053

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

CA1139665213

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

CA443240716

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
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

CA443239908

rs_1033402019

2 SubmittersRCV001155588 RCV001155587 RCV001155589 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

CA443240262

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

CA414898040

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

Criteria Provided
Conflicting Classifications

CA359058709

rs_1751271544

4 SubmittersRCV001172441 RCV002509620 RCV001819874 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
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA359071530

rs_1422814635

5 SubmittersRCV001172444 RCV001819875 RCV002509621 RCV004559909 RCV002559651

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

SNV
Germline

Chr5:1280217

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA359081468

rs_1194223999

7 SubmittersRCV001172450 RCV002509622 RCV004559910 RCV001819876 RCV002558734 RCV004734036

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

SNV
Unknown

ChrX:154765492

Likely pathogenic

Dyskeratosis congenita, X-linked

Criteria Provided
Single Submitter

CA414888926

rs_2071733846

1 SubmittersRCV001195949

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

SNV
Germline

Chr5:1266480

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA359073151

rs_1748613571

4 SubmittersRCV001819918 RCV003150824 RCV003770256 RCV003150823

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

CA8372145

rs_371046424

2 SubmittersRCV001220129 RCV002562498

NM_025099.6(CTC1):c.17C>T (p.Ala6Val)

SNV
Germline

Chr17:8248020

Conflicting classifications of pathogenicity

Dyskeratosis congenita
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8372762

rs_371541763

2 SubmittersRCV001224710 RCV003163752

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

CA359067406

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

CA359068884

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
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA3184749

rs_769540249

3 SubmittersRCV003103930 RCV003324819 RCV005278753

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

SNV
Germline

Chr5:1293594

Conflicting classifications of pathogenicity

Dyskeratosis congenita
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Conflicting Classifications

CA359086349

rs_1164823749

2 SubmittersRCV004559926 RCV002561184

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

SNV
Germline

Chr14:24240687

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA257880956

rs_200320654

5 SubmittersRCV001212678 RCV004561955 RCV003405398 RCV001780129

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

SNV
Germline

Chr16:14604220

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA7912316

rs_760506977

3 SubmittersRCV001201968 RCV001819891 RCV001252646

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

CA8372758

rs_374877315

4 SubmittersRCV001213645 RCV002249804

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

SNV
Germline

Chr20:63662625

Pathogenic

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

Criteria Provided
Single Submitter

CA409669769

rs_2090043175

1 SubmittersRCV001207263

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

SNV
Germline

Chr20:63690852

Pathogenic

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

Criteria Provided
Single Submitter

CA409681528

rs_2090722556

1 SubmittersRCV001206922

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

SNV
Germline

Chr20:63690876

Pathogenic

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

Criteria Provided
Single Submitter

CA409681618

rs_1278121916

1 SubmittersRCV001203817

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

SNV
Germline

Chr20:63692877

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

CA409682917

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

CA414889354

rs_2071739379

2 SubmittersRCV001209989

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

CA8372092

rs_199861310

4 SubmittersRCV001203903 RCV001809993

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

SNV
Germline

Chr20:63665998

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9964335

rs_778544732

4 SubmittersRCV001206466 RCV001833812 RCV004699193

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

SNV
Germline

Chr5:1282625

Likely pathogenic

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Single Submitter

CA359083627

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

CA395183289

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

CA359073154

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
Melanoma, cutaneous malignant, susceptibility to, 9
Acute myeloid leukemia
Dyskeratosis congenita, autosomal dominant 2
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1

Criteria Provided
Conflicting Classifications

CA3184462

rs_755183437

3 SubmittersRCV002563844 RCV004557474 RCV005040073

NM_198253.3(TERT):c.1828C>T (p.Arg610Trp)

SNV
Germline

Chr5:1280280

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3184747

rs_747940807

3 SubmittersRCV003473789 RCV002563111

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

CA359055821

rs_1279397908

3 SubmittersRCV002256713 RCV002563174

NM_198253.3(TERT):c.902G>T (p.Arg301Leu)

SNV
Germline

Chr5:1293984

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA359056225

rs_1268051204

2 SubmittersRCV002563726 RCV005245512

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

CA3184912

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

CA359057029

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

CA359058985

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

CA8114860

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

CA397978863

rs_1201426650

1 SubmittersRCV001233953

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

SNV
Germline

Chr20:63689762

Pathogenic

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

Criteria Provided
Single Submitter

CA409679004

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

CA9965161

rs_768188490

2 SubmittersRCV001233061 RCV003469423

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

SNV
Germline

Chr20:63694800

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA409684892

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

CA112957663

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

CA3184916

rs_746036694

3 SubmittersRCV002256723 RCV002568661

NM_025099.6(CTC1):c.3568G>A (p.Val1190Met)

SNV
Germline

Chr17:8228266

Conflicting classifications of pathogenicity

Dyskeratosis congenita
Cerebroretinal microangiopathy with calcifications and cysts 1

Criteria Provided
Conflicting Classifications

CA8371705

rs_371036203

2 SubmittersRCV001247683 RCV005232217

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
CTC1-related disorder

Criteria Provided
Conflicting Classifications

CA8372035

rs_780358670

5 SubmittersRCV001241949 RCV001558827 RCV001807394 RCV001819943 RCV004751934

NM_001283009.2(RTEL1):c.2191C>T (p.His731Tyr)

SNV
Germline

Chr20:63690136

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9965223

rs_149063501

4 SubmittersRCV001243050 RCV001829010 RCV004762017 RCV004960636

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

SNV
Germline

Chr20:63693256

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9965676

rs_139221232

6 SubmittersRCV001242762 RCV001267792 RCV001732088 RCV001835138

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

SNV
Germline

Chr20:63693281

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

CA317522409

rs_1046295138

3 SubmittersRCV001243173 RCV001829015 RCV002564055

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

SNV
Germline

Chr20:63694378

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9965788

rs_201560152

4 SubmittersRCV002447205 RCV001242903 RCV001751484

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

CA9965904

rs_137914057

5 SubmittersRCV001244547 RCV001835205 RCV002259387 RCV004538512

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

SNV
Germline

Chr20:63695611

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

Criteria Provided
Conflicting Classifications

CA9966183

rs_376313219

4 SubmittersRCV001245936 RCV003433090 RCV005269023

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

SNV
Germline

Chr20:63680720

Likely pathogenic

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

Criteria Provided
Single Submitter

CA409674698

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

CA7912414

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

Criteria Provided
Conflicting Classifications

CA359075759

rs_1169312254

4 SubmittersRCV001267800 RCV002568705 RCV003229617 RCV004822340

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

SNV
Germline

Chr5:1293601

Pathogenic

Dyskeratosis congenita, autosomal dominant 2

No Assertion Criteria Provided

CA359086370

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

Criteria Provided
Conflicting Classifications

CA278510978

rs_757655633

3 SubmittersRCV001260999 RCV003263914 RCV001880000

NR_001566.3(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

CA436715820

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

CA3184446

rs_372868296

3 SubmittersRCV001268086 RCV002541635 RCV004557498

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

SNV
Germline

Chr17:8237497

Pathogenic

Condition: not provided
Dyskeratosis congenita
CTC1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA397991957

rs_1169567839

3 SubmittersRCV001268612 RCV001880169 RCV003898254

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

CA9965280

rs_537754916

5 SubmittersRCV001279963 RCV002542938 RCV004035497

NM_001283009.2(RTEL1):c.2531G>A (p.Arg844Gln)

SNV
Germline

Chr20:63690922

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9965384

rs_758245234

3 SubmittersRCV001279965 RCV005269035 RCV005213513

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

SNV
Germline

Chr5:1264483

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3184402

rs_554229004

3 SubmittersRCV002539471 RCV004557519 RCV004762062

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

SNV
Germline

Chr5:1293921

Conflicting classifications of pathogenicity

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA359056059

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

CA10567282

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

Criteria Provided
Conflicting Classifications

CA359069981

rs_1748153358

3 SubmittersRCV002327692 RCV002509657 RCV002543591 RCV003447587

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

SNV
Germline

Chr5:1293403

Conflicting classifications of pathogenicity

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA359085389

rs_1561213308

2 SubmittersRCV002543728 RCV004557533

NM_198253.3(TERT):c.761G>C (p.Gly254Ala)

SNV
Germline

Chr5:1294125

Conflicting classifications of pathogenicity

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA359056875

rs_1364961973

2 SubmittersRCV002546186 RCV005278824

NM_025099.6(CTC1):c.2783G>T (p.Cys928Phe)

SNV
Germline

Chr17:8230444

Conflicting classifications of pathogenicity

Dyskeratosis congenita
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8371966

rs_373660155

2 SubmittersRCV001314378 RCV004692473

NM_001283009.2(RTEL1):c.664A>G (p.Ile222Val)

SNV
Germline

Chr20:63667518

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

CA409670715

rs_1235107432

3 SubmittersRCV001326895 RCV001831022 RCV004960780

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

SNV
Germline

Chr20:63690874

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

CA9965374

rs_774640608

4 SubmittersRCV001325719 RCV001830375 RCV004035176 RCV005094399

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
Inborn genetic diseases
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA9965573

rs_761268803

3 SubmittersRCV001327028 RCV002438753 RCV001831026

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

SNV
Germline

ChrX:154764923

Conflicting classifications of pathogenicity

Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA10566955

rs_376632263

2 SubmittersRCV001313757

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

SNV
Germline

ChrX:154764966

Conflicting classifications of pathogenicity

Dyskeratosis congenita
DKC1-related disorder
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA10566960

rs_142474971

4 SubmittersRCV001326733 RCV004035214 RCV003438741 RCV005236805

NM_001363.5(DKC1):c.487A>G (p.Ile163Val)

SNV
Germline

ChrX:154767035

Conflicting classifications of pathogenicity

Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA414890035

rs_782159247

2 SubmittersRCV001315023

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

SNV
Germline

Chr5:1278640

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA359078622

rs_1749780301

3 SubmittersRCV002675447 RCV004558797 RCV005429379

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
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA3184852

rs_781329984

3 SubmittersRCV002329318 RCV002546931 RCV004822364

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

CA8114529

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

CA8114848

rs_779383442

2 SubmittersRCV001339731 RCV002438772

NM_001283009.2(RTEL1):c.3437C>T (p.Pro1146Leu)

SNV
Germline

Chr20:63695159

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9966030

rs_749331637

4 SubmittersRCV001350999 RCV001825970 RCV004692617 RCV004960848

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

CA8114425

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

CA112950361

rs_995777798

2 SubmittersRCV002550144 RCV004557574

NM_198253.3(TERT):c.803G>A (p.Arg268His)

SNV
Germline

Chr5:1294083

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3184911

rs_374426285

3 SubmittersRCV001820074 RCV002550113 RCV004557571

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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8114435

rs_747913250

3 SubmittersRCV001365972 RCV002395827 RCV004692644

NM_001082486.2(ACD):c.617A>C (p.His206Pro)

SNV
Germline

Chr16:67658956

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8114608

rs_755371076

6 SubmittersRCV001367765 RCV001820068 RCV002377542 RCV004692652 RCV005361571

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

CA8114629

rs_145007645

2 SubmittersRCV001360982 RCV002413853

NM_025099.6(CTC1):c.3538C>T (p.Gln1180Ter)

SNV
Germline

Chr17:8228296

Pathogenic

Dyskeratosis congenita

Criteria Provided
Single Submitter

CA8371715

rs_562356966

1 SubmittersRCV001370131

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

SNV
Germline

Chr5:1258604

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA359068797

rs_866575708

2 SubmittersRCV002550227 RCV001376142

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

SNV
Germline

Chr5:1260472

Likely pathogenic

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Single Submitter

CA359069531

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
Cerebroretinal microangiopathy with calcifications and cysts 1

Criteria Provided
Conflicting Classifications

CA397977010

rs_1597378045

4 SubmittersRCV001378877 RCV002469385 RCV002550255 RCV005408881

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

SNV
Germline

Chr17:8248036

Conflicting classifications of pathogenicity

Cerebroretinal microangiopathy with calcifications and cysts 1
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA8372774

rs_779499831

4 SubmittersRCV001780284 RCV001378112

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

CA409674695

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

CA409675859

rs_1444392809

1 SubmittersRCV001378074

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

SNV
Germline

Chr20:63690211

Likely pathogenic

Dyskeratosis congenita, autosomal recessive 5
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita
Dyskeratosis congenita, autosomal recessive 5
Combined oxidative phosphorylation defect type 24

Criteria Provided
Multiple Submitters
No Conflicts

CA409680036

rs_2145431062

5 SubmittersRCV001378379 RCV001831354 RCV003469633 RCV005411734

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

CA409685223

rs_2145476311

1 SubmittersRCV001377696

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

SNV
Germline

Chr17:8234520

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA287535604

rs_952398755

4 SubmittersRCV001385981 RCV001780351 RCV003426066

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

SNV
Germline

Chr17:8238220

Pathogenic

Dyskeratosis congenita

Criteria Provided
Single Submitter

CA397992897

rs_2151530716

1 SubmittersRCV001385655

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

SNV
Germline

Chr20:63688146

Pathogenic

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

Criteria Provided
Single Submitter

CA409676980

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

CA409681860

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

CA409682771

rs_2090784564

1 SubmittersRCV001384321

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

SNV
Germline

Chr20:63694422

Pathogenic

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

Criteria Provided
Single Submitter

CA409684489

rs_777109448

1 SubmittersRCV001382485

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

SNV
Germline

Chr20:63695594

Pathogenic

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

Criteria Provided
Single Submitter

CA409710255

rs_1385101139

1 SubmittersRCV001384501

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

SNV
Germline

Chr5:1282479

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA443025933

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
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA3184851

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
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA112915107

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

CA8372575

rs_779778738

2 SubmittersRCV001398782

NM_198253.3(TERT):c.2131-5C>A

SNV
Germline

Chr5:1278801

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA1072494478

rs_1749799813

2 SubmittersRCV002555513 RCV005503143

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

SNV
Germline

Chr5:1294198

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA112915116

rs_989271195

3 SubmittersRCV002555537 RCV001820127 RCV004557643

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

SNV
Germline

Chr5:1294430

Conflicting classifications of pathogenicity

Dyskeratosis congenita
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Conflicting Classifications

CA3184975

rs_757121533

3 SubmittersRCV002256771 RCV002555511

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

SNV
Germline

Chr20:63661881

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

CA9964183

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
Inborn genetic diseases
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA9964466

rs_202157063

3 SubmittersRCV001441796 RCV004952900 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

CA511661349

rs_2090805113

2 SubmittersRCV001433829 RCV003235574

NM_001283009.2(RTEL1):c.3700C>T (p.Pro1234Ser)

SNV
Germline

Chr20:63695528

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

CA409686535

rs_1207345139

2 SubmittersRCV001425841 RCV005271257

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

SNV
Germline

Chr5:1255396

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA443020472

rs_1454370746

3 SubmittersRCV001820156 RCV002560370 RCV004557678

NM_198253.3(TERT):c.1419G>A (p.Val473=)

SNV
Germline

Chr5:1293467

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA443240690

rs_1396093690

3 SubmittersRCV002561995 RCV005369891 RCV004557704

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
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA9964162

rs_779793496

3 SubmittersRCV001464682 RCV003298808 RCV001820158

NM_198253.3(TERT):c.1905C>T (p.Asn635=)

SNV
Germline

Chr5:1280203

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA112950304

rs_891246934

2 SubmittersRCV002563340 RCV005286482

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

SNV
Germline

Chr20:63690114

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

CA511661091

rs_1224602711

4 SubmittersRCV001501914 RCV002256809 RCV005243575 RCV004952953

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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9965637

rs_398123018

4 SubmittersRCV001479591 RCV002256790 RCV002439145 RCV004762149

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

CA359058066

rs_775225240

2 SubmittersRCV001577737 RCV004558631

NM_198253.3(TERT):c.2312C>T (p.Pro771Leu)

SNV
Germline

Chr5:1272255

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA359076428

rs_1309399887

5 SubmittersRCV001723468 RCV004690124 RCV003771871 RCV005493065

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

SNV
Germline/somatic

Chr5:1295113

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA557858711

rs_1242535815

7 SubmittersRCV001728078 RCV002223145 RCV003332346 RCV003470881 RCV002073409 RCV004671424

NM_001082486.2(ACD):c.337-6C>T

SNV
Germline

Chr16:67659619

Conflicting classifications of pathogenicity

Condition: not provided
Dyskeratosis congenita, autosomal dominant 6

Criteria Provided
Conflicting Classifications

CA8114734

rs_772943251

2 SubmittersRCV003238639 RCV005095092

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

SNV
Germline

Chr5:1278812

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3184647

rs_146768484

2 SubmittersRCV003237483 RCV002540730

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

CA287543368

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

CA397975775

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

CA397999697

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

CA8372258

rs_773716148

2 SubmittersRCV001780891 RCV003530208

NM_025099.6(CTC1):c.3221+1G>A

SNV
Germline

Chr17:8229141

Likely pathogenic

Cerebroretinal microangiopathy with calcifications and cysts 1
Dyskeratosis congenita

Criteria Provided
Multiple Submitters
No Conflicts

CA8371845

rs_766644829

2 SubmittersRCV001780892 RCV005095130

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

CA409683096

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
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Pulmonary fibrosis

Criteria Provided
Conflicting Classifications

CA359058282

rs_1751262771

3 SubmittersRCV001806957 RCV002542371 RCV002509702

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

CA3184364

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

CA7912127

rs_766337795

2 SubmittersRCV001819238 RCV002074298

NR_001566.3(TERC):n.54A>C

SNV
Germline

Chr3:169765007

Conflicting classifications of pathogenicity

Condition: not provided
Dyskeratosis congenita, autosomal dominant 1

Criteria Provided
Conflicting Classifications

CA436715941

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

CA621032719

rs_1328915368

2 SubmittersRCV001819330 RCV001869684

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

CA8372617

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

CA8372121

rs_530949904

2 SubmittersRCV001822740 RCV001869772

NR_001566.3(TERC):n.180C>G

SNV
Germline

Chr3:169764881

Conflicting classifications of pathogenicity

Condition: not provided
Dyskeratosis congenita, autosomal dominant 1

Criteria Provided
Conflicting Classifications

CA436715509

rs_199422276

2 SubmittersRCV001817712 RCV005620428

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

SNV
Germline

Chr5:1255286

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA359067985

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

CA9964133

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

CA397999703

rs_1299853886

2 SubmittersRCV001837721 RCV003530211

NM_025099.6(CTC1):c.2452C>T (p.Arg818Ter)

SNV
Germline

Chr17:8231749

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA287533433

rs_760884555

3 SubmittersRCV001837722 RCV005095306 RCV005014685

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

SNV
Germline

ChrX:154765939

Likely pathogenic

Dyskeratosis congenita, X-linked

Criteria Provided
Single Submitter

CA414889378

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

CA10567033

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

CA112915426

rs_867642414

1 SubmittersRCV002552829

NC_000016.10:g.67660382G>A

SNV
Germline

Chr16:67660382

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 6
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8114912

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

CA397980413

rs_2151512520

1 SubmittersRCV001974940

NM_025099.6(CTC1):c.812G>A (p.Trp271Ter)

SNV
Germline

Chr17:8236323

Pathogenic

Dyskeratosis congenita

Criteria Provided
Single Submitter

CA397989146

rs_2151524168

1 SubmittersRCV001912692

NM_001283009.2(RTEL1):c.1192-2A>G

SNV
Germline

Chr20:63685521

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA409675568

rs_2145411185

2 SubmittersRCV002046118

NM_001283009.2(RTEL1):c.3787C>T (p.Gln1263Ter)

SNV
Germline

Chr20:63695615

Pathogenic

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

Criteria Provided
Single Submitter

CA409710303

rs_2145480992

1 SubmittersRCV001979059

NM_025099.6(CTC1):c.1617+1G>T

SNV
Germline

Chr17:8234748

Likely pathogenic

Dyskeratosis congenita

Criteria Provided
Single Submitter

CA397983515

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

CA394813087

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

CA409679973

rs_2145430921

1 SubmittersRCV002037651

NM_001283009.2(RTEL1):c.301+1G>A

SNV
Germline

Chr20:63661497

Likely pathogenic

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

Criteria Provided
Single Submitter

CA409658268

rs_2146149228

1 SubmittersRCV001961306

NM_198253.3(TERT):c.2746G>A (p.Gly916Ser)

SNV
Germline

Chr5:1264501

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA359071924

rs_1189683846

3 SubmittersRCV005245524 RCV002548055 RCV004558679

NC_000016.10:g.67660376C>T

SNV
Germline

Chr16:67660376

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 6
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA396359771

rs_772377460

2 SubmittersRCV001996231 RCV002389010

NM_001082486.2(ACD):c.1004G>A (p.Arg335His)

SNV
Germline

Chr16:67658188

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 6
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA8114464

rs_774558672

3 SubmittersRCV001938227 RCV002449591 RCV002236188

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

CA409676127

rs_2145412626

1 SubmittersRCV002014383

NM_001363.5(DKC1):c.537C>G (p.Ala179=)

SNV
Germline

ChrX:154767279

Conflicting classifications of pathogenicity

Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA10567050

rs_782697778

2 SubmittersRCV001905336

NM_001283009.2(RTEL1):c.3184G>A (p.Ala1062Thr)

SNV
Germline

Chr20:63694815

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9965896

rs_773397014

3 SubmittersRCV003170265 RCV001966852 RCV005235624

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

CA8372391

rs_764414504

2 SubmittersRCV001938655 RCV002556446

NM_022836.4(DCLRE1B):c.1184G>A (p.Arg395Gln)

SNV
Germline

Chr1:113911776

Conflicting classifications of pathogenicity

not specified
Autosomal recessive dyskeratosis congenita
Hoyeraal-Hreidarsson syndrome

Criteria Provided
Conflicting Classifications

CA1016542

rs_146482651

2 SubmittersRCV004040335 RCV001961964

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

CA359056864

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

CA394809748

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

CA394804812

rs_2151767204

1 SubmittersRCV002022603

NM_001082486.2(ACD):c.-9G>C

SNV
Germline

Chr16:67660229

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 6
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA8114852

rs_377247506

3 SubmittersRCV001935428 RCV002441014 RCV005232711

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

CA409676923

rs_2145421181

1 SubmittersRCV002020146

NM_198253.3(TERT):c.77C>T (p.Thr26Met)

SNV
Germline

Chr5:1294913

Conflicting classifications of pathogenicity

Dyskeratosis congenita
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Conflicting Classifications

CA3185025

rs_760727529

2 SubmittersRCV004558685 RCV002550983

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

CA359057233

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

CA278954412

rs_745696590

1 SubmittersRCV001927466

NM_001283009.2(RTEL1):c.2759A>G (p.Gln920Arg)

SNV
Germline

Chr20:63692911

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

CA409682984

rs_2090788449

2 SubmittersRCV001909832 RCV005271494

NM_001363.5(DKC1):c.55C>T (p.Arg19Trp)

SNV
Germline

ChrX:154764937

Conflicting classifications of pathogenicity

Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA10566956

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

CA394801859

rs_1380270401

1 SubmittersRCV002007342

NC_000016.10:g.67660436C>T

SNV
Germline

Chr16:67660436

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 6
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8114946

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

CA397986806

rs_1203574273

1 SubmittersRCV001994739

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

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

CA409685224

rs_2145476311

1 SubmittersRCV002000425

NM_025099.6(CTC1):c.880C>T (p.Gln294Ter)

SNV
Germline

Chr17:8236255

Pathogenic

Dyskeratosis congenita

Criteria Provided
Single Submitter

CA397988709

rs_2151523798

1 SubmittersRCV002035253

NM_025099.6(CTC1):c.3387+1G>A

SNV
Germline

Chr17:8228726

Likely pathogenic

Dyskeratosis congenita

Criteria Provided
Single Submitter

CA397968979

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

CA409683432

rs_1370553261

1 SubmittersRCV001978568

NM_198253.3(TERT):c.2923T>C (p.Phe975Leu)

SNV
Germline

Chr5:1260521

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA359069902

rs_2126584472

2 SubmittersRCV003107939 RCV004822980

NM_025099.6(CTC1):c.33+2T>G

SNV
Germline

Chr17:8248002

Likely pathogenic

Dyskeratosis congenita

Criteria Provided
Single Submitter

CA397999301

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

CA394811593

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

CA409679930

rs_2145430878

3 SubmittersRCV001932662 RCV002292675 RCV003471020

NM_001283009.2(RTEL1):c.3500-1G>A

SNV
Germline

Chr20:63695327

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA409685559

rs_1205986855

3 SubmittersRCV002012366 RCV003471242 RCV004729021

NM_001283009.2(RTEL1):c.3124C>T (p.Gln1042Ter)

SNV
Germline

Chr20:63694755

Pathogenic

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

Criteria Provided
Single Submitter

CA409684794

rs_929898540

1 SubmittersRCV001939342

NM_198253.3(TERT):c.2353C>T (p.Pro785Ser)

SNV
Germline

Chr5:1272214

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA3184561

rs_755822641

2 SubmittersRCV002545543 RCV004558803

NM_198253.3(TERT):c.227G>C (p.Cys76Ser)

SNV
Germline

Chr5:1294659

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA359058717

rs_1192287561

3 SubmittersRCV002555292 RCV005401869 RCV005505281

NM_001283009.2(RTEL1):c.3058G>T (p.Glu1020Ter)

SNV
Germline

Chr20:63694437

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA409684548

rs_771746222

2 SubmittersRCV001946917 RCV003126044

NM_001283009.2(RTEL1):c.1263T>A (p.Tyr421Ter)

SNV
Germline

Chr20:63685594

Pathogenic

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

Criteria Provided
Single Submitter

CA409675835

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

CA8114463

rs_368783801

2 SubmittersRCV001971938 RCV002370550

NM_001283009.2(RTEL1):c.1543G>A (p.Val515Ile)

SNV
Germline

Chr20:63687998

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

CA409676749

rs_1246091092

3 SubmittersRCV001898792 RCV002511111 RCV005482982

NM_198253.3(TERT):c.3118G>A (p.Ala1040Thr)

SNV
Germline

Chr5:1255326

Likely pathogenic

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Telomere syndrome

Criteria Provided
Single Submitter

CA359068120

rs_770144114

2 SubmittersRCV002579662 RCV003325413

NM_001283009.2(RTEL1):c.890C>T (p.Pro297Leu)

SNV
Germline

Chr20:63674064

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

CA9964474

rs_748022323

2 SubmittersRCV001887113 RCV004953290

NM_001283009.2(RTEL1):c.3812G>A (p.Arg1271Gln)

SNV
Germline

Chr20:63695640

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

CA9966190

rs_754719045

2 SubmittersRCV001959808 RCV005271537

NM_001283009.2(RTEL1):c.1661A>G (p.Tyr554Cys)

SNV
Germline

Chr20:63688325

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

CA317511153

rs_1046172136

2 SubmittersRCV001910903 RCV004656712

NM_001283009.2(RTEL1):c.46C>T (p.Gln16Ter)

SNV
Germline

Chr20:63659448

Pathogenic

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

Criteria Provided
Single Submitter

CA409657481

rs_2146141455

1 SubmittersRCV002042170

NM_001363.5(DKC1):c.253G>A (p.Asp85Asn)

SNV
Germline

ChrX:154765988

Conflicting classifications of pathogenicity

Dyskeratosis congenita
Dyskeratosis congenita, X-linked
Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1

Criteria Provided
Conflicting Classifications

CA414889485

rs_2148509772

2 SubmittersRCV001946300 RCV004731205

NM_025099.6(CTC1):c.2385+1G>C

SNV
Germline

Chr17:8231902

Likely pathogenic

Dyskeratosis congenita

Criteria Provided
Single Submitter

CA397977022

rs_2151508864

1 SubmittersRCV002001503

NM_001283009.2(RTEL1):c.1789A>G (p.Ser597Gly)

SNV
Germline

Chr20:63688594

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

CA9964973

rs_774400247

2 SubmittersRCV001930242 RCV005271496

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

CA396349828

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

CA359083465

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

CA409679533

rs_2090696292

2 SubmittersRCV002015934 RCV003471252

NM_198253.3(TERT):c.3031A>C (p.Arg1011=)

SNV
Germline

Chr5:1258599

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA443020699

rs_2126573316

2 SubmittersRCV002642160 RCV004822979

NM_025099.6(CTC1):c.1078-13G>A

SNV
Germline

Chr17:8235972

Conflicting classifications of pathogenicity

Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA8372469

rs_200325111

2 SubmittersRCV002094295

NM_198253.3(TERT):c.3158-5C>T

SNV
Germline

Chr5:1254510

Conflicting classifications of pathogenicity

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA557563006

rs_776804142

2 SubmittersRCV003070582 RCV005493265

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

SNV
Germline

Chr5:1260612

Conflicting classifications of pathogenicity

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA3184365

rs_199765802

2 SubmittersRCV002551298 RCV002256898

NM_001283009.2(RTEL1):c.3706G>A (p.Gly1236Arg)

SNV
Germline

Chr20:63695534

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

CA9966165

rs_200225613

2 SubmittersRCV002138004 RCV005266198

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

CA3184297

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

CA443020720

rs_941352340

4 SubmittersRCV002259171 RCV003093821 RCV004533966

NM_001283009.2(RTEL1):c.396-5A>C

SNV
Germline

Chr20:63662541

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA317489365

rs_761890952

2 SubmittersRCV004529096 RCV002167140

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

CA9964109

rs_183862736

2 SubmittersRCV002111577 RCV002258381

NM_198253.3(TERT):c.2971-14C>T

SNV
Germline

Chr5:1258673

Conflicting classifications of pathogenicity

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Acute myeloid leukemia
Melanoma, cutaneous malignant, susceptibility to, 9
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Conflicting Classifications

CA2573138605

rs_2126573743

2 SubmittersRCV002562254 RCV005032148

NM_025099.6(CTC1):c.1542A>G (p.Leu514=)

SNV
Germline

Chr17:8234824

Conflicting classifications of pathogenicity

Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA287536029

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

CA359072002

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

CA409683156

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

CA409683166

rs_2145448526

1 SubmittersRCV002249156

NM_198253.3(TERT):c.2131-2A>G

SNV
Germline

Chr5:1278798

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA359079789

rs_1749799292

2 SubmittersRCV002331859 RCV003101364

NM_025099.6(CTC1):c.1092C>T (p.Gly364=)

SNV
Germline

Chr17:8235945

Conflicting classifications of pathogenicity

Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA8372460

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

CA397987131

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

CA8372095

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

CA9964954

rs_751640004

2 SubmittersRCV002255950 RCV003774781

NM_001283009.2(RTEL1):c.2852-12C>T

SNV
Germline

Chr20:63693131

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9965630

rs_745776915

2 SubmittersRCV002259235 RCV003101421

NM_001071.4(TYMS):c.343C>T (p.Arg115Ter)

SNV
Germline

Chr18:662209

Pathogenic

Dyskeratosis congenita
Dyskeratosis congenita, digenic

Criteria Provided
Single Submitter

CA401670183

rs_2046518776

2 SubmittersRCV002269393 RCV002285186

NM_001071.4(TYMS):c.556+1G>A

SNV
Unknown

Chr18:669174

Pathogenic

Dyskeratosis congenita

Criteria Provided
Single Submitter

CA401670681

rs_2144335968

1 SubmittersRCV002269397

NM_001071.4(TYMS):c.811C>T (p.Arg271Ter)

SNV
Unknown

Chr18:672866

Pathogenic

Dyskeratosis congenita

Criteria Provided
Single Submitter

CA401660037

rs_1703168604

1 SubmittersRCV002269398

NM_198253.3(TERT):c.293C>A (p.Ala98Asp)

SNV
Germline

Chr5:1294593

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA359058471

rs_2478430098

3 SubmittersRCV002509810 RCV004558913 RCV005225594

NM_001283009.2(RTEL1):c.2040G>T (p.Gln680His)

SNV
Germline

Chr20:63689764

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9965149

rs_144568600

5 SubmittersRCV002284633 RCV003097666 RCV002416554 RCV004545279

NM_198253.3(TERT):c.3373T>G (p.Ser1125Ala)

SNV
Germline

Chr5:1253754

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA359066534

rs_2478065733

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

CA359066787

rs_2478066648

2 SubmittersRCV003775590 RCV004558970

NM_001099274.3(TINF2):c.815G>A (p.Trp272Ter)

SNV
Germline

Chr14:24240665

Pathogenic

Dyskeratosis congenita

Criteria Provided
Single Submitter

CA389225968

rs_2502456306

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

CA112957582

rs_1013341756

3 SubmittersRCV003108072 RCV004534080 RCV004559479

NM_001082486.2(ACD):c.1299G>A (p.Arg433=)

SNV
Germline

Chr16:67657684

Conflicting classifications of pathogenicity

Inborn genetic diseases
Dyskeratosis congenita, autosomal dominant 6

Criteria Provided
Conflicting Classifications

CA8114368

rs_756845439

2 SubmittersRCV002405331 RCV003096930

NM_001363.5(DKC1):c.189T>G (p.Asn63Lys)

SNV
Germline

ChrX:154765924

Pathogenic

Dyskeratosis congenita

Criteria Provided
Single Submitter

CA414889348

rs_2523680394

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

CA396353011

rs_1260047390

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

CA3184562

rs_750815238

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

CA359074195

rs_1748783254

2 SubmittersRCV003101979 RCV004559583

NM_198253.3(TERT):c.2646C>G (p.Thr882=)

SNV
Germline

Chr5:1266472

Conflicting classifications of pathogenicity

Dyskeratosis congenita
Condition: not provided

Criteria Provided
Conflicting Classifications

CA443021902

rs_758561541

2 SubmittersRCV004559590 RCV004765523

NM_198253.3(TERT):c.2648T>G (p.Phe883Cys)

SNV
Germline

Chr5:1266470

Likely pathogenic

Dyskeratosis congenita

Criteria Provided
Single Submitter

CA359073108

rs_2478165471

1 SubmittersRCV004559591

NM_001082486.2(ACD):c.40C>A (p.Arg14=)

SNV
Germline

Chr16:67660181

Conflicting classifications of pathogenicity

Inborn genetic diseases
Dyskeratosis congenita, autosomal dominant 6

Criteria Provided
Conflicting Classifications

CA496088275

rs_1235168823

2 SubmittersRCV002442307 RCV005098374

NM_022836.4(DCLRE1B):c.426A>T (p.Leu142Phe)

SNV
Germline

Chr1:113908079

Pathogenic

Dyskeratosis congenita, autosomal recessive 8

No Assertion Criteria Provided

CA341699019

rs_769100574

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

CA1016385

rs_201626532

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

CA1016399

rs_763252884

1 SubmittersRCV002462819

NM_001283009.2(RTEL1):c.1379C>T (p.Pro460Leu)

SNV
Germline

Chr20:63687668

Pathogenic

Dyskeratosis congenita, X-linked

No Assertion Criteria Provided

CA409676213

rs_1386490624

1 SubmittersRCV002464981

NM_001283009.2(RTEL1):c.3871G>A (p.Val1291Ile)

SNV
Germline

Chr20:63695826

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

CA9966233

rs_544271988

2 SubmittersRCV003053012 RCV004960932

NM_025099.6(CTC1):c.436-1G>A

SNV
Germline

Chr17:8238243

Likely pathogenic

Dyskeratosis congenita

Criteria Provided
Single Submitter

CA397992945

rs_2507948437

1 SubmittersRCV003060240

NM_001283009.2(RTEL1):c.2210A>G (p.Asn737Ser)

SNV
Germline

Chr20:63690155

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9965226

rs_773705133

3 SubmittersRCV003060899 RCV004960964 RCV003340614

NM_025099.6(CTC1):c.694C>T (p.Arg232Ter)

SNV
Germline

Chr17:8237473

Pathogenic

Dyskeratosis congenita

Criteria Provided
Single Submitter

CA397991814

rs_1270595568

1 SubmittersRCV003085545

NM_001283009.2(RTEL1):c.31G>A (p.Val11Ile)

SNV
Germline

Chr20:63659433

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

CA9964079

rs_768223828

2 SubmittersRCV003079723 RCV005266516

NM_001283009.2(RTEL1):c.3342C>A (p.His1114Gln)

SNV
Germline

Chr20:63694973

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9965959

rs_779506307

3 SubmittersRCV003072025 RCV004673788 RCV004536573

NM_001283009.2(RTEL1):c.3286C>G (p.Leu1096Val)

SNV
Germline

Chr20:63694917

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

CA9965940

rs_547956753

2 SubmittersRCV003093741 RCV004961000

NM_001283009.2(RTEL1):c.957G>A (p.Lys319=)

SNV
Germline

Chr20:63678182

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

CA511372050

rs_2517058695

2 SubmittersRCV003091305 RCV004961019

NM_001283009.2(RTEL1):c.178C>T (p.Arg60Ter)

SNV
Germline

Chr20:63661373

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

CA409657896

rs_1457184127

3 SubmittersRCV002579263 RCV004786837

NM_025099.6(CTC1):c.2605C>T (p.Gln869Ter)

SNV
Germline

Chr17:8231340

Pathogenic

Dyskeratosis congenita

Criteria Provided
Single Submitter

CA287532970

rs_1046130813

1 SubmittersRCV002579265

NM_198253.3(TERT):c.2113G>A (p.Glu705Lys)

SNV
Germline

Chr5:1279308

Conflicting classifications of pathogenicity

Dyskeratosis congenita
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Conflicting Classifications

CA359080037

rs_2478274631

2 SubmittersRCV004560040 RCV003080428

NM_025099.6(CTC1):c.495C>A (p.Tyr165Ter)

SNV
Germline

Chr17:8238183

Pathogenic

Dyskeratosis congenita

Criteria Provided
Single Submitter

CA397992813

rs_2507947953

1 SubmittersRCV002637813

NM_001283009.2(RTEL1):c.1037+9C>T

SNV
Germline

Chr20:63678355

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9964569

rs_373823132

2 SubmittersRCV002638519

NM_025099.6(CTC1):c.1A>G (p.Met1Val)

SNV
Germline

Chr17:8248036

Pathogenic

Dyskeratosis congenita

Criteria Provided
Single Submitter

CA8372776

rs_779499831

1 SubmittersRCV002629981

NM_001283009.2(RTEL1):c.3217T>G (p.Ser1073Ala)

SNV
Germline

Chr20:63694848

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA409684981

rs_1328770706

3 SubmittersRCV003112824 RCV005483378 RCV005608926

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

CA397984193

rs_765406506

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

CA359068778

rs_2478106403

1 SubmittersRCV002622217

NM_001283009.2(RTEL1):c.61C>T (p.Gln21Ter)

SNV
Germline

Chr20:63659463

Pathogenic

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

Criteria Provided
Single Submitter

CA409657520

rs_2516986131

1 SubmittersRCV002659462

NM_001283009.2(RTEL1):c.302-19C>A

SNV
Germline

Chr20:63661831

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

CA2374914918

rs_2090026473

2 SubmittersRCV002670972 RCV004958685

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

CA409669461

rs_2516997767

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

CA394813305

rs_2508495416

1 SubmittersRCV002717339

NM_001283009.2(RTEL1):c.2557-2A>G

SNV
Germline

Chr20:63691740

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

CA409682190

rs_2517154868

2 SubmittersRCV002775632 RCV003465828

NM_001283009.2(RTEL1):c.72C>G (p.Tyr24Ter)

SNV
Germline

Chr20:63659474

Pathogenic

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

Criteria Provided
Single Submitter

CA409657549

rs_1424161739

1 SubmittersRCV002800588

NM_001283009.2(RTEL1):c.1120C>T (p.Gln374Ter)

SNV
Germline

Chr20:63679931

Pathogenic

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

Criteria Provided
Single Submitter

CA409674028

rs_2517068790

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

CA397860218

rs_2543751607

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

CA278514598

rs_751946182

1 SubmittersRCV002814926

NM_198253.3(TERT):c.505C>T (p.Gln169Ter)

SNV
Germline

Chr5:1294381

Pathogenic

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Single Submitter

CA359057889

rs_2478426642

1 SubmittersRCV002823989

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

SNV
Germline

Chr5:1272184

Likely pathogenic

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Single Submitter

CA359076171

rs_1749089374

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

CA409673965

rs_765792997

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

CA409679028

rs_2517134736

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

CA409673988

rs_1274681944

1 SubmittersRCV002871878

NM_025099.6(CTC1):c.1207-1G>C

SNV
Germline

Chr17:8235286

Likely pathogenic

Dyskeratosis congenita

Criteria Provided
Single Submitter

CA397985087

rs_1202350917

1 SubmittersRCV002881294

NM_025099.6(CTC1):c.58C>T (p.Gln20Ter)

SNV
Germline

Chr17:8243124

Pathogenic

Dyskeratosis congenita

Criteria Provided
Single Submitter

CA397996780

rs_2508007696

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

CA409676179

rs_2517111998

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

CA409669446

rs_2516997727

2 SubmittersRCV002867523 RCV003435830

NM_025099.6(CTC1):c.1617+5G>T

SNV
Germline

Chr17:8234744

Pathogenic

Dyskeratosis congenita

Criteria Provided
Single Submitter

CA2580094920

rs_766214390

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

CA394817963

rs_2508658475

1 SubmittersRCV002872509

NM_198253.3(TERT):c.2323C>T (p.Gln775Ter)

SNV
Germline

Chr5:1272244

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA359076394

rs_2478210028

2 SubmittersRCV002918325 RCV005245533

NM_025099.6(CTC1):c.2071C>T (p.Gln691Ter)

SNV
Germline

Chr17:8232217

Pathogenic

Dyskeratosis congenita

Criteria Provided
Single Submitter

CA8372166

rs_367943020

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

CA409682965

rs_2517165410

1 SubmittersRCV002933119

NM_025099.6(CTC1):c.2473G>C (p.Ala825Pro)

SNV
Germline

Chr17:8231728

Conflicting classifications of pathogenicity

Dyskeratosis congenita
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA287533382

rs_915406565

2 SubmittersRCV002904198 RCV005552805

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

CA9965794

rs_767735975

3 SubmittersRCV002927735 RCV004067024

NM_198253.3(TERT):c.2130+1G>C

SNV
Germline

Chr5:1279290

Likely pathogenic

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Single Submitter

CA359079907

rs_1749840545

1 SubmittersRCV002929149

NM_001283009.2(RTEL1):c.1038-2A>G

SNV
Germline

Chr20:63679847

Likely pathogenic

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

Criteria Provided
Single Submitter

CA409673699

rs_2517068279

1 SubmittersRCV003009605

NM_001283009.2(RTEL1):c.2966G>A (p.Arg989Gln)

SNV
Germline

Chr20:63693257

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

CA9965677

rs_200683292

2 SubmittersRCV002999447 RCV003170822

NM_198253.3(TERT):c.757C>T (p.Gln253Ter)

SNV
Germline

Chr5:1294129

Pathogenic

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Single Submitter

CA359056885

rs_2478420652

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

CA409684744

rs_2517194487

1 SubmittersRCV003029602

NM_001283009.2(RTEL1):c.2026-2A>G

SNV
Germline

Chr20:63689748

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

CA409678971

rs_2517134527

3 SubmittersRCV003059634 RCV004572716 RCV005608851

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

CA394812738

rs_2507557254

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

CA359068274

rs_2478083772

1 SubmittersRCV003227578

NM_198253.3(TERT):c.444G>T (p.Val148=)

SNV
Germline

Chr5:1294442

Conflicting classifications of pathogenicity

Condition: not provided
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA443240364

rs_1314321999

2 SubmittersRCV003235896 RCV004823140

NM_001363.5(DKC1):c.114C>G (p.Ile38Met)

SNV
Germline

ChrX:154765473

Likely pathogenic

Dyskeratosis congenita, X-linked

Criteria Provided
Multiple Submitters
No Conflicts

CA414888888

rs_2523679280

2 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

CA409678749

rs_2517132595

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

CA409668495

rs_2516994367

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

CA409681766

rs_2517148169

1 SubmittersRCV003466275

NM_001283009.2(RTEL1):c.614+1G>C

SNV
Germline

Chr20:63666080

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

CA409670602

rs_2517010029

2 SubmittersRCV003466277 RCV005030048

NM_001283009.2(RTEL1):c.478-2A>G

SNV
Unknown

Chr20:63662827

Likely pathogenic

Dyskeratosis congenita, autosomal recessive 5

Criteria Provided
Single Submitter

CA409669832

rs_2516999509

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

CA409679469

rs_1281899571

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

CA409682766

rs_2517164471

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

CA409679717

rs_2517138611

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

CA409682387

rs_537751924

1 SubmittersRCV003466287

NM_001283009.2(RTEL1):c.2142-1G>C

SNV
Germline

Chr20:63690086

Likely pathogenic

Dyskeratosis congenita, autosomal recessive 5
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA409679541

rs_2090696366

2 SubmittersRCV003466289 RCV004723328

NM_001283009.2(RTEL1):c.919+1G>T

SNV
Unknown

Chr20:63674094

Likely pathogenic

Dyskeratosis congenita, autosomal recessive 5

Criteria Provided
Single Submitter

CA409673130

rs_2517040329

1 SubmittersRCV003466292

NM_001283009.2(RTEL1):c.2992+1G>C

SNV
Germline

Chr20:63693284

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

CA409683433

rs_1370553261

2 SubmittersRCV003466295 RCV005216117

NM_001283009.2(RTEL1):c.1264A>T (p.Lys422Ter)

SNV
Unknown

Chr20:63685595

Likely pathogenic

Dyskeratosis congenita, autosomal recessive 5

Criteria Provided
Single Submitter

CA409675840

rs_2517096977

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

CA9965314

rs_776744306

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

CA409682810

rs_779810410

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

CA414894111

rs_2523695424

1 SubmittersRCV003459971

NM_025099.6(CTC1):c.896G>A (p.Trp299Ter)

SNV
Germline

Chr17:8236239

Pathogenic

Dyskeratosis congenita

Criteria Provided
Single Submitter

CA397988643

rs_2507932362

1 SubmittersRCV003530367

NM_001099274.3(TINF2):c.869T>C (p.Phe290Ser)

SNV
Germline

Chr14:24240611

Likely pathogenic

Dyskeratosis congenita

Criteria Provided
Single Submitter

CA389225298

rs_2502455630

1 SubmittersRCV003531078

NM_025099.6(CTC1):c.3387+1G>C

SNV
Germline

Chr17:8228726

Likely pathogenic

Dyskeratosis congenita

Criteria Provided
Single Submitter

CA397968978

rs_1242486415

1 SubmittersRCV003646460

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

SNV
Germline

Chr17:8248036

Pathogenic

Dyskeratosis congenita

Criteria Provided
Single Submitter

CA8372775

rs_779499831

1 SubmittersRCV003646874

NM_025099.6(CTC1):c.3221+2T>C

SNV
Germline

Chr17:8229140

Likely pathogenic

Dyskeratosis congenita

Criteria Provided
Single Submitter

CA397969552

rs_1381641458

1 SubmittersRCV003646929

NM_001363.5(DKC1):c.1294G>T (p.Val432Leu)

SNV
Germline

ChrX:154775229

Conflicting classifications of pathogenicity

Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA337313566

rs_949327136

2 SubmittersRCV003646882

NM_001143992.2(WRAP53):c.823-11C>G

SNV
Germline

Chr17:7701646

Conflicting classifications of pathogenicity

Condition: not provided
Dyskeratosis congenita, autosomal recessive 3

Criteria Provided
Conflicting Classifications

CA287473323

rs_955112491

2 SubmittersRCV003733650 RCV005014922

NM_025099.6(CTC1):c.946C>T (p.Gln316Ter)

SNV
Germline

Chr17:8236189

Pathogenic

Dyskeratosis congenita

Criteria Provided
Single Submitter

CA397988428

rs_1220062851

1 SubmittersRCV003647148

NM_198253.3(TERT):c.950G>A (p.Trp317Ter)

SNV
Germline

Chr5:1293936

Pathogenic

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Single Submitter

CA359056096

rs_2478417168

1 SubmittersRCV003785418

NM_001283009.2(RTEL1):c.1213T>G (p.Ser405Ala)

SNV
Germline

Chr20:63685544

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

CA409675654

rs_1369065305

2 SubmittersRCV003784172 RCV005273884

NM_198253.3(TERT):c.1246C>T (p.Arg416Ter)

SNV
Germline

Chr5:1293640

Pathogenic

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Single Submitter

CA359086444

rs_2478412591

1 SubmittersRCV003782297

NM_002582.4(PARN):c.1005+2T>A

SNV
Germline

Chr16:14584747

Likely pathogenic

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

Criteria Provided
Single Submitter

CA394803117

rs_2507867198

1 SubmittersRCV003782353

NM_001283009.2(RTEL1):c.3514G>T (p.Glu1172Ter)

SNV
Germline

Chr20:63695342

Pathogenic

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

Criteria Provided
Single Submitter

CA409685582

rs_140411308

1 SubmittersRCV003793541

NM_001283009.2(RTEL1):c.1699G>T (p.Glu567Ter)

SNV
Germline

Chr20:63688363

Pathogenic

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

Criteria Provided
Single Submitter

CA409677758

rs_2517119949

1 SubmittersRCV003785292

NM_001283009.2(RTEL1):c.1993G>A (p.Glu665Lys)

SNV
Germline

Chr20:63689616

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9965101

rs_768397005

2 SubmittersRCV003781826

NM_001283009.2(RTEL1):c.3109+2T>C

SNV
Germline

Chr20:63694490

Likely pathogenic

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

Criteria Provided
Single Submitter

CA409684742

rs_2517194487

1 SubmittersRCV003789831

NM_198253.3(TERT):c.1573+2T>A

SNV
Germline

Chr5:1293311

Likely pathogenic

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Single Submitter

CA359084992

rs_2478407432

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

CA409668868

rs_2516994656

1 SubmittersRCV003780715

NM_001283009.2(RTEL1):c.3823-11T>C

SNV
Germline

Chr20:63695767

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2374935956

rs_2090965484

2 SubmittersRCV003789029

NM_001283009.2(RTEL1):c.1744A>T (p.Met582Leu)

SNV
Germline

Chr20:63688549

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

CA317511462

rs_745349945

2 SubmittersRCV003792904 RCV005273904

NM_001283009.2(RTEL1):c.3456G>T (p.Arg1152Ser)

SNV
Germline

Chr20:63695178

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

CA409685464

rs_753433733

2 SubmittersRCV003786094 RCV005485522

NM_001283009.2(RTEL1):c.2936G>A (p.Arg979Gln)

SNV
Germline

Chr20:63693227

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

CA9965664

rs_574134304

2 SubmittersRCV003788417 RCV005475469

NM_001283009.2(RTEL1):c.2887C>T (p.Gln963Ter)

SNV
Germline

Chr20:63693178

Pathogenic

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

Criteria Provided
Single Submitter

CA409683242

rs_1389016317

1 SubmittersRCV003798337

NM_002582.4(PARN):c.1645C>T (p.Gln549Ter)

SNV
Germline

Chr16:14482663

Pathogenic

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

Criteria Provided
Single Submitter

CA395183350

rs_2506913635

1 SubmittersRCV003796508

NM_001283009.2(RTEL1):c.2142-1G>T

SNV
Germline

Chr20:63690086

Likely pathogenic

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

Criteria Provided
Single Submitter

CA409679543

rs_2090696366

1 SubmittersRCV003807816

NM_198253.3(TERT):c.1544G>A (p.Arg515Gln)

SNV
Germline

Chr5:1293342

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA359085097

rs_2478407891

2 SubmittersRCV003807818 RCV004823230

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
Dyskeratosis congenita

Criteria Provided
Multiple Submitters
No Conflicts

CA409676119

rs_2090581105

3 SubmittersRCV003807875 RCV004573328 RCV005610614

NM_002582.4(PARN):c.1481-1G>A

SNV
Germline

Chr16:14482828

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA395183735

rs_1412358291

2 SubmittersRCV003807917 RCV005626863

NM_001283009.2(RTEL1):c.477+1G>A

SNV
Germline

Chr20:63662628

Likely pathogenic

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

Criteria Provided
Single Submitter

CA409669782

rs_2516998156

1 SubmittersRCV003808335

NM_001283009.2(RTEL1):c.2401C>T (p.Gln801Ter)

SNV
Germline

Chr20:63690429

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA409681230

rs_2517141332

2 SubmittersRCV003791792

NM_198253.3(TERT):c.1831G>T (p.Glu611Ter)

SNV
Germline

Chr5:1280277

Pathogenic

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Single Submitter

CA359081869

rs_1554041095

1 SubmittersRCV003805396

NM_001283009.2(RTEL1):c.2006A>G (p.Gln669Arg)

SNV
Germline

Chr20:63689629

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

CA317512880

rs_921396999

2 SubmittersRCV003805611 RCV005273921

NM_001283009.2(RTEL1):c.3610C>T (p.Gln1204Ter)

SNV
Germline

Chr20:63695438

Pathogenic

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

Criteria Provided
Single Submitter

CA409686354

rs_1373020489

2 SubmittersRCV003803724 RCV005610617

NM_002582.4(PARN):c.1671-1G>T

SNV
Germline

Chr16:14447082

Likely pathogenic

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

Criteria Provided
Single Submitter

CA395184629

rs_1271398801

1 SubmittersRCV003804035

NM_002582.4(PARN):c.1262+2T>C

SNV
Germline

Chr16:14580872

Likely pathogenic

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

Criteria Provided
Single Submitter

CA394821495

rs_2507816770

1 SubmittersRCV003801598

NM_198253.3(TERT):c.329G>T (p.Gly110Val)

SNV
Germline

Chr5:1294557

Likely pathogenic

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Single Submitter

CA359058281

rs_1751262771

1 SubmittersRCV003798846

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

SNV
Germline

Chr20:63693285

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

CA409683437

rs_2517170691

2 SubmittersRCV003802965 RCV005622255

NM_198253.3(TERT):c.2970+1G>A

SNV
Germline

Chr5:1260473

Likely pathogenic

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Single Submitter

CA359069534

rs_2478128940

1 SubmittersRCV003803039

NM_001283009.2(RTEL1):c.2713C>T (p.Gln905Ter)

SNV
Germline

Chr20:63692865

Pathogenic

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

Criteria Provided
Single Submitter

CA409682891

rs_768610590

1 SubmittersRCV003805317

NM_198253.3(TERT):c.2130+2T>G

SNV
Germline

Chr5:1279289

Likely pathogenic

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Single Submitter

CA359079897

rs_1160960250

1 SubmittersRCV003803273

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

SNV
Germline

Chr5:1282625

Likely pathogenic

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Single Submitter

CA359083629

rs_1750106866

1 SubmittersRCV003801431

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

SNV
Germline

Chr5:1278640

Likely pathogenic

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Single Submitter

CA359078615

rs_1749780301

1 SubmittersRCV003792572

NM_198253.3(TERT):c.3212A>G (p.Gln1071Arg)

SNV
Germline

Chr5:1254451

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA359067402

rs_1437804875

2 SubmittersRCV003795088 RCV004559010

NM_001283009.2(RTEL1):c.850G>T (p.Glu284Ter)

SNV
Germline

Chr20:63674024

Pathogenic

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

Criteria Provided
Single Submitter

CA409672865

rs_2517039957

1 SubmittersRCV003802673

NM_198253.3(TERT):c.1805C>A (p.Ser602Ter)

SNV
Germline

Chr5:1280303

Pathogenic

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Single Submitter

CA359082022

rs_759017540

1 SubmittersRCV003808505

NM_002582.4(PARN):c.784-1G>A

SNV
Germline

Chr16:14599961

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA394806525

rs_1970777169

2 SubmittersRCV003800767 RCV004794659

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

CA409679034

rs_2517134750

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

CA409673135

rs_2517040332

1 SubmittersRCV003807123

NM_198253.3(TERT):c.2380C>T (p.Gln794Ter)

SNV
Germline

Chr5:1272187

Pathogenic

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Single Submitter

CA359076186

rs_2478209197

1 SubmittersRCV003809225

NM_001283009.2(RTEL1):c.3499+2T>C

SNV
Germline

Chr20:63695223

Likely pathogenic

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

Criteria Provided
Single Submitter

CA409685553

rs_2517201429

1 SubmittersRCV003801974

NM_002582.4(PARN):c.994C>T (p.Gln332Ter)

SNV
Germline

Chr16:14584760

Pathogenic

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

Criteria Provided
Single Submitter

CA394803174

rs_2507867448

1 SubmittersRCV003802047

NM_001283009.2(RTEL1):c.2802T>A (p.Cys934Ter)

SNV
Germline

Chr20:63692954

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA409683065

rs_1446832873

2 SubmittersRCV003804559

NM_001283009.2(RTEL1):c.3109+1G>T

SNV
Germline

Chr20:63694489

Likely pathogenic

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

Criteria Provided
Single Submitter

CA409684738

rs_2145471794

1 SubmittersRCV003817965

NM_001283009.2(RTEL1):c.2557-1G>A

SNV
Germline

Chr20:63691741

Likely pathogenic

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

Criteria Provided
Single Submitter

CA409682194

rs_2517154875

1 SubmittersRCV003809546

NM_198253.3(TERT):c.2654+1G>C

SNV
Germline

Chr5:1266463

Likely pathogenic

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Single Submitter

CA359073060

rs_1299344520

1 SubmittersRCV003810011

NM_001283009.2(RTEL1):c.2266-2A>G

SNV
Germline

Chr20:63690292

Likely pathogenic

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

Criteria Provided
Single Submitter

CA409680727

rs_2517140063

1 SubmittersRCV003807632

NM_198253.3(TERT):c.2130+1G>A

SNV
Germline

Chr5:1279290

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA359079909

rs_1749840545

2 SubmittersRCV003812700 RCV005422437

NM_198253.3(TERT):c.2790G>A (p.Trp930Ter)

SNV
Germline

Chr5:1264457

Pathogenic

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Single Submitter

CA359071597

rs_2478152935

1 SubmittersRCV003810562

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

SNV
Germline

Chr20:63690442

Likely pathogenic

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

Criteria Provided
Single Submitter

CA409681274

rs_776744306

1 SubmittersRCV003812305

NM_001283009.2(RTEL1):c.3499+1G>A

SNV
Germline

Chr20:63695222

Likely pathogenic

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

Criteria Provided
Single Submitter

CA409685552

rs_2517201426

1 SubmittersRCV003810267

NM_001082486.2(ACD):c.140A>G (p.His47Arg)

SNV
Germline

Chr16:67660005

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 6
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA396356906

rs_1235862680

2 SubmittersRCV003850838 RCV004605064

NM_025099.6(CTC1):c.802C>T (p.Gln268Ter)

SNV
Germline

Chr17:8236333

Pathogenic

Dyskeratosis congenita

Criteria Provided
Single Submitter

CA397989199

rs_2507933267

1 SubmittersRCV003843279

NM_025099.6(CTC1):c.1077+1G>A

SNV
Germline

Chr17:8236057

Likely pathogenic

Dyskeratosis congenita

Criteria Provided
Single Submitter

CA397987650

rs_1987691332

1 SubmittersRCV003873241

NR_001566.3(TERC):n.301A>T

SNV
Germline

Chr3:169764760

Likely pathogenic

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

Criteria Provided
Single Submitter

2 SubmittersRCV005220772 RCV004697322

NM_002582.4(PARN):c.918+5G>A

SNV
Germline

Chr16:14593296

Likely pathogenic

Dyskeratosis congenita, autosomal recessive 6

Criteria Provided
Single Submitter

CA2631856631

rs_2507959298

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

rs_2478409320

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

rs_1555304055

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

rs_1345874407

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

rs_2517203807

1 SubmittersRCV004574804

NM_198253.3(TERT):c.219+2T>A

SNV
Germline

Chr5:1294769

Likely pathogenic

Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Multiple Submitters
No Conflicts

rs_2126691326

2 SubmittersRCV004573708 RCV005281534

NM_198253.3(TERT):c.1951-2A>C

SNV
Unknown

Chr5:1279472

Likely pathogenic

Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Single Submitter

rs_2478277661

1 SubmittersRCV004573711

NM_002582.4(PARN):c.178-28T>C

SNV
Germline

Chr16:14627364

Likely pathogenic

Dyskeratosis congenita, autosomal recessive 6

Criteria Provided
Single Submitter

1 SubmittersRCV004689602

NM_001283009.2(RTEL1):c.395+2T>G

SNV
Germline

Chr20:63661945

Likely pathogenic

Dyskeratosis congenita, autosomal recessive 5

Criteria Provided
Single Submitter

1 SubmittersRCV004789891

NM_002582.4(PARN):c.293A>G (p.Asn98Ser)

SNV
Germline

Chr16:14627140

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004956916 RCV005218361

NM_001283009.2(RTEL1):c.1672A>G (p.Ile558Val)

SNV
Germline

Chr20:63688336

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 SubmittersRCV005221122 RCV004962456

NM_001283009.2(RTEL1):c.394C>A (p.Arg132=)

SNV
Germline

Chr20:63661942

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004962566 RCV005221129

NM_001099274.3(TINF2):c.848C>T (p.Pro283Leu)

SNV
Germline

Chr14:24240632

Likely pathogenic

Dyskeratosis congenita, autosomal dominant 3
Revesz syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005005614

NM_001283009.2(RTEL1):c.821C>G (p.Ser274Ter)

SNV
Germline

Chr20:63673995

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005032639

NM_001283009.2(RTEL1):c.2859C>A (p.Tyr953Ter)

SNV
Germline

Chr20:63693150

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005032643

NM_001283009.2(RTEL1):c.3110-1G>A

SNV
Germline

Chr20:63694740

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005032647

NM_001283009.2(RTEL1):c.3259A>T (p.Lys1087Ter)

SNV
Germline

Chr20:63694890

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005032648

NM_001283009.2(RTEL1):c.3651G>A (p.Trp1217Ter)

SNV
Germline

Chr20:63695479

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005032649

NM_025099.6(CTC1):c.2053C>T (p.Gln685Ter)

SNV
Germline

Chr17:8232368

Pathogenic

Dyskeratosis congenita

Criteria Provided
Single Submitter

1 SubmittersRCV005137805

NM_025099.6(CTC1):c.3157-2A>C

SNV
Germline

Chr17:8229208

Likely pathogenic

Dyskeratosis congenita

Criteria Provided
Single Submitter

1 SubmittersRCV005195226

NM_001283009.2(RTEL1):c.3262C>T (p.Gln1088Ter)

SNV
Germline

Chr20:63694893

Pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005211704

NM_002582.4(PARN):c.1263-1G>A

SNV
Germline

Chr16:14555710

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005219588

NM_198253.3(TERT):c.1769+2T>C

SNV
Germline

Chr5:1282427

Likely pathogenic

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Single Submitter

1 SubmittersRCV005223588

NM_001283009.2(RTEL1):c.301+1G>C

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

1 SubmittersRCV005223701

NM_001283009.2(RTEL1):c.2852-1G>A

SNV
Germline

Chr20:63693142

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005211045

NM_198253.3(TERT):c.2105C>G (p.Pro702Arg)

SNV
Germline

Chr5:1279316

Likely pathogenic

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Single Submitter

1 SubmittersRCV005221225

NM_198253.3(TERT):c.2594G>T (p.Arg865Leu)

SNV
Germline

Chr5:1266524

Likely pathogenic

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Single Submitter

1 SubmittersRCV005228973

NM_002582.4(PARN):c.643C>T (p.Gln215Ter)

SNV
Germline

Chr16:14608297

Pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005229005

NM_001283009.2(RTEL1):c.3274C>T (p.Leu1092Phe)

SNV
Germline

Chr20:63694905

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 SubmittersRCV005221706 RCV005269235

NM_002582.4(PARN):c.1577G>A (p.Trp526Ter)

SNV
Germline

Chr16:14482731

Pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005212672

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

SNV
Germline

Chr20:63693141

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005216314

NM_001283009.2(RTEL1):c.2026-1G>T

SNV
Germline

Chr20:63689749

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005214646

NM_198253.3(TERT):c.2001C>G (p.Tyr667Ter)

SNV
Germline

Chr5:1279420

Pathogenic

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Single Submitter

1 SubmittersRCV005219969

NM_002582.4(PARN):c.1363G>T (p.Glu455Ter)

SNV
Germline

Chr16:14554107

Pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005220473

NM_001283009.2(RTEL1):c.3754G>A (p.Val1252Met)

SNV
Germline

Chr20:63695582

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 SubmittersRCV005228397 RCV005269234

NM_002582.4(PARN):c.177+1G>A

SNV
Germline

Chr16:14628171

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005226809

NM_198253.3(TERT):c.3158-2A>C

SNV
Germline

Chr5:1254507

Likely pathogenic

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Single Submitter

1 SubmittersRCV005224932

NM_001283009.2(RTEL1):c.3349A>G (p.Ser1117Gly)

SNV
Germline

Chr20:63695071

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

2 SubmittersRCV005224527 RCV005485782

NM_002582.4(PARN):c.1481-2A>G

SNV
Germline

Chr16:14482829

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005224583

NM_001283009.2(RTEL1):c.3232C>T (p.Gln1078Ter)

SNV
Germline

Chr20:63694863

Pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005224772

NM_025099.6(CTC1):c.538G>T (p.Glu180Ter)

SNV
Germline

Chr17:8238140

Likely pathogenic

Dyskeratosis congenita

Criteria Provided
Single Submitter

1 SubmittersRCV005360088

NM_001283009.2(RTEL1):c.2992+2T>C

SNV
Germline

Chr20:63693285

Likely pathogenic

Dyskeratosis congenita

No Assertion Criteria Provided

1 SubmittersRCV005608106