Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
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 Condition: not provided not specified Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis TERT-related disorder	Criteria Provided Conflicting Classifications	CA122653	rs_121918661	21 SubmittersRCV000013566 RCV000032398 RCV000489117 RCV000604322 RCV000758251 RCV002255997 RCV002513013 RCV004541000
NM_198253.3(TERT):c.1234C>T (p.His412Tyr)	SNV Germline	Chr5:1293652	Conflicting classifications of pathogenicity	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Aplastic anemia Autosomal recessive dyskeratosis congenita 4 not specified Dyskeratosis congenita, autosomal dominant 2 Condition: not provided Dyskeratosis congenita Dyskeratosis congenita, autosomal dominant 2 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	Criteria Provided Conflicting Classifications	CA122655	rs_34094720	17 SubmittersRCV000013567 RCV000032365 RCV000190902 RCV000218461 RCV000262966 RCV000425346 RCV002255259 RCV002513014 RCV003224095
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 Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Pulmonary fibrosis Condition: not provided TERT-related disorder Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA122657	rs_121918662	8 SubmittersRCV000013568 RCV000032373 RCV002513015 RCV002509152 RCV003441715 RCV004532332 RCV004558246
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 Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	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 Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA122668	rs_199422309	4 SubmittersRCV000013575 RCV000032380 RCV002513017 RCV004700226
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 Telomere syndrome Condition: not provided Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Pulmonary fibrosis Dyskeratosis congenita	Criteria Provided Multiple Submitters No Conflicts	CA128724	rs_199422294	12 SubmittersRCV000022783 RCV000032370 RCV000677344 RCV003325404 RCV003150932 RCV002513175 RCV002509167 RCV004558270
NM_198253.3(TERT):c.2431C>T (p.Arg811Cys)	SNV Germline	Chr5:1271156	Conflicting classifications of pathogenicity	Autosomal recessive dyskeratosis congenita 4 Dyskeratosis congenita, autosomal recessive 1 Condition: not provided Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita not specified	Criteria Provided Conflicting Classifications	CA128727	rs_199422301	7 SubmittersRCV000022784 RCV000032383 RCV001797047 RCV002051796 RCV002513176 RCV005278528 RCV005237404
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 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA128729	rs_199422304	4 SubmittersRCV000022785 RCV000032388 RCV003764630 RCV004558271
NM_198253.3(TERT):c.2371G>A (p.Val791Ile)	SNV Germline	Chr5:1272196	Conflicting classifications of pathogenicity	Condition: not provided Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita, autosomal dominant 2 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 TERT-related disorder Dyskeratosis congenita Intellectual disability	Criteria Provided Conflicting Classifications	CA044696	rs_141425941	8 SubmittersRCV001549913 RCV002518376 RCV003325196 RCV003992244 RCV004734891 RCV004822024 RCV005625474
NM_198253.3(TERT):c.2599G>A (p.Val867Met)	SNV Germline	Chr5:1266519	Pathogenic/Likely pathogenic	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Pulmonary fibrosis	Criteria Provided Multiple Submitters No Conflicts	CA044715	rs_201159197	2 SubmittersRCV002327153 RCV002518411 RCV002509334
NM_198253.3(TERT):c.508G>A (p.Val170Met)	SNV Germline	Chr5:1294378	Conflicting classifications of pathogenicity	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 7 conditions Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita, autosomal dominant 2 TERT-related disorder Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA129982	rs_387907248	6 SubmittersRCV000030628 RCV000765805 RCV002513271 RCV003473153 RCV004532429 RCV005749512
NM_198253.3(TERT):c.2146G>A (p.Ala716Thr)	SNV Germline	Chr5:1278781	Pathogenic/Likely pathogenic	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Multiple Submitters No Conflicts	CA129984	rs_387907249	6 SubmittersRCV000030629 RCV002513272 RCV003447479
NM_198253.3(TERT):c.2768C>T (p.Pro923Leu)	SNV Germline	Chr5:1264479	Conflicting classifications of pathogenicity	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Condition: not provided 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_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 Pulmonary fibrosis Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA343424	rs_199422293	6 SubmittersRCV000032367 RCV002326716 RCV002509174 RCV002514131 RCV004558276 RCV004808559 RCV006456631
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	10 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 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1	Criteria Provided Multiple Submitters No Conflicts	CA343437	rs_199422298	8 SubmittersRCV000032376 RCV001576802 RCV002514132 RCV004786285 RCV004558279 RCV005859475
NM_198253.3(TERT):c.2177C>T (p.Thr726Met)	SNV Germline	Chr5:1278750	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 1 Interstitial lung disease 2 not specified Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Condition: not provided Dyskeratosis congenita, autosomal dominant 2 TERT-related disorder Melanoma, cutaneous malignant, susceptibility to, 9 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Acute myeloid leukemia Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA343442	rs_149566858	10 SubmittersRCV000032378 RCV000987499 RCV001818203 RCV002514133 RCV003137552 RCV003466884 RCV004532476 RCV005031467 RCV005278529
NM_198253.3(TERT):c.2935C>T (p.Arg979Trp)	SNV Germline/somatic	Chr5:1260509	Conflicting classifications of pathogenicity	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 Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications	CA170795	rs_199422305	6 SubmittersRCV000032390 RCV000144245 RCV002509176 RCV002513300 RCV005250001 RCV005867803
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	19 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 Pulmonary fibrosis Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications	CA343461	rs_199422291	5 SubmittersRCV000032397 RCV000256024 RCV002509178 RCV002513303
NM_198253.3(TERT):c.3105C>T (p.Val1035=)	SNV Germline	Chr5:1255339	Conflicting classifications of pathogenicity	not specified Dyskeratosis congenita, autosomal dominant 2 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Aplastic anemia Condition: not provided Dyskeratosis congenita Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis DiGeorge syndrome	Criteria Provided Conflicting Classifications	CA178124	rs_181612536	16 SubmittersRCV000151993 RCV000313027 RCV000366513 RCV000399240 RCV001560519 RCV002256086 RCV002514931 RCV005863001
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 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA208776	rs_797046042	6 SubmittersRCV000194545 RCV000515155 RCV001172445 RCV003105822 RCV005749525
NM_198253.3(TERT):c.834C>A (p.Pro278=)	SNV Germline	Chr5:1294052	Conflicting classifications of pathogenicity	not specified 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	CA3184905	rs_375423906	4 SubmittersRCV000218700 RCV001155583 RCV001152948 RCV001152947 RCV002517511 RCV004558465
NM_198253.3(TERT):c.3333G>A (p.Thr1111=)	SNV Germline	Chr5:1253794	Conflicting classifications of pathogenicity	not specified Dyskeratosis congenita, autosomal dominant 2 Aplastic anemia Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Condition: not provided Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 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 Condition: not provided Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita, autosomal dominant 2 TERT-related disorder Dyskeratosis congenita Dyskeratosis congenita, autosomal dominant 2 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Acute myeloid leukemia Melanoma, cutaneous malignant, susceptibility to, 9	Criteria Provided Conflicting Classifications	CA3184242	rs_200288187	10 SubmittersRCV001820783 RCV003126647 RCV002518382 RCV003469173 RCV004734892 RCV004822025 RCV005031821
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 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 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 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Condition: not provided TERT-related disorder	Criteria Provided Conflicting Classifications	CA10582350	rs_878855303	4 SubmittersRCV001820781 RCV002519813 RCV003237799 RCV004541460
NM_198253.3(TERT):c.2769G>A (p.Pro923=)	SNV Germline	Chr5:1264478	Conflicting classifications of pathogenicity	not specified Condition: not provided Dyskeratosis congenita Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Acute myeloid leukemia	Criteria Provided Conflicting Classifications	CA3184401	rs_200174990	8 SubmittersRCV000499661 RCV000732368 RCV002256178 RCV002518377 RCV003316311
NM_198253.3(TERT):c.2255A>G (p.His752Arg)	SNV Germline	Chr5:1278672	Conflicting classifications of pathogenicity	not specified Dyskeratosis congenita Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA3184618	rs_375699185	5 SubmittersRCV000502003 RCV002255341 RCV002519811 RCV006450097
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 Aplastic anemia Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Condition: not provided Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184667	rs_765264494	6 SubmittersRCV000503916 RCV001151517 RCV001154529 RCV001151518 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 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184671	rs_151055240	13 SubmittersRCV000250893 RCV000273101 RCV000302865 RCV000357715 RCV001529280 RCV002518372 RCV004558593
NM_198253.3(TERT):c.2098C>T (p.Gln700Ter)	SNV Germline	Chr5:1279323	Pathogenic	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	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 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Aplastic anemia Dyskeratosis congenita, autosomal dominant 2 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 RCV001155363 RCV001155364 RCV001155365 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 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita, autosomal dominant 2 TERT-related disorder	Criteria Provided Conflicting Classifications	CA3184723	rs_147521473	8 SubmittersRCV001820780 RCV001775705 RCV002256176 RCV002518369 RCV003469172 RCV004734890
NM_198253.3(TERT):c.1336C>A (p.Arg446Ser)	SNV Germline	Chr5:1293550	Conflicting classifications of pathogenicity	Condition: not provided Dyskeratosis congenita not specified Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 TERT-related disorder	Criteria Provided Conflicting Classifications	CA3184855	rs_567650961	8 SubmittersRCV001356732 RCV002255339 RCV003151000 RCV002518367 RCV004532971
NM_198253.3(TERT):c.1331A>G (p.Asp444Gly)	SNV Germline	Chr5:1293555	Conflicting classifications of pathogenicity	Acute myeloid leukemia Condition: not provided Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA10582362	rs_878855299	4 SubmittersRCV001292603 RCV003325475 RCV002518366 RCV004558590
NM_198253.3(TERT):c.339G>A (p.Glu113=)	SNV Germline	Chr5:1294547	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita Condition: not provided	Criteria Provided Conflicting Classifications	CA3184992	rs_757141480	3 SubmittersRCV002518384 RCV004558599 RCV006270364
NM_198253.3(TERT):c.-57A>C	SNV Germline/somatic	Chr5:1295046	Conflicting classifications of pathogenicity	Melanoma, cutaneous malignant, susceptibility to, 9 Condition: not provided Malignant tumor of urinary bladder Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita, autosomal dominant 2 Neoplasm Dyskeratosis congenita Neuroblastoma	Criteria Provided Conflicting Classifications	CA10582367	rs_878855297	11 SubmittersRCV000034312 RCV001820777 RCV003332157 RCV002519807 RCV003475834 RCV004668870 RCV004822022 RCV006253924
NM_198253.3(TERT):c.1849C>T (p.Leu617=)	SNV Germline	Chr5:1280259	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 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Acute myeloid leukemia Dyskeratosis congenita Melanoma, cutaneous malignant, susceptibility to, 9	Criteria Provided Conflicting Classifications	CA3184742	rs_140951453	8 SubmittersRCV000244189 RCV000287182 RCV000336462 RCV000372475 RCV001580477 RCV002518668 RCV003316456 RCV004558609 RCV005235242
NM_198253.3(TERT):c.1769+16G>A	SNV Germline	Chr5:1282413	Conflicting classifications of pathogenicity	not specified Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184775	rs_202108457	3 SubmittersRCV000248852 RCV003105841 RCV004558608
NM_198253.3(TERT):c.2455C>T (p.Arg819Cys)	SNV Germline	Chr5:1271132	Conflicting classifications of pathogenicity	Condition: not provided Dyskeratosis congenita Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Conflicting Classifications	CA10588390	rs_746621306	4 SubmittersRCV000256149 RCV002256186 RCV002518756
NM_198253.3(TERT):c.1700C>T (p.Thr567Met)	SNV Germline	Chr5:1282498	Likely pathogenic	Condition: not provided Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1	Criteria Provided Multiple Submitters No Conflicts	CA10588391	rs_886039438	5 SubmittersRCV000255577 RCV002518755 RCV004558612 RCV005860055
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	8 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 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	CA3184396	rs_370292237	3 SubmittersRCV000285766 RCV000343040 RCV000376627 RCV002520298 RCV004558620
NM_198253.3(TERT):c.2391C>G (p.Ser797=)	SNV Germline	Chr5:1271196	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Aplastic anemia Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Condition: not provided Dyskeratosis congenita not specified 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 Condition: not provided Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis TERT-related disorder Dyskeratosis congenita Intellectual disability	Criteria Provided Conflicting Classifications	CA3185020	rs_573817924	10 SubmittersRCV000266345 RCV000324023 RCV000357781 RCV000613962 RCV001528455 RCV002520305 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 Condition: not provided	Criteria Provided Conflicting Classifications	CA3184437	rs_375473823	4 SubmittersRCV000274620 RCV000315371 RCV000367753 RCV002520299 RCV004544653 RCV006447050
NM_198253.3(TERT):c.3150G>C (p.Lys1050Asn)	SNV Germline	Chr5:1255294	Conflicting classifications of pathogenicity	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Dyskeratosis congenita, autosomal dominant 2 Aplastic anemia not specified Dyskeratosis congenita Condition: not provided Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Conflicting Classifications	CA3184275	rs_373400596	8 SubmittersRCV000309581 RCV000344253 RCV000398654 RCV001815383 RCV002255372 RCV002509370 RCV002523498
NM_198253.3(TERT):c.2886C>T (p.Arg962=)	SNV Germline	Chr5:1260558	Conflicting classifications of pathogenicity	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Dyskeratosis congenita, autosomal dominant 2 Aplastic anemia 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, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA3184933	rs_35837567	5 SubmittersRCV000312452 RCV000355603 RCV000403911 RCV002520303 RCV004558621 RCV005434861 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 Dyskeratosis congenita not specified Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Condition: not provided Acute myeloid leukemia TERT-related disorder	Criteria Provided Conflicting Classifications	CA3184953	rs_11952056	9 SubmittersRCV000296917 RCV000354116 RCV000404356 RCV002257653 RCV001821075 RCV002520304 RCV003137968 RCV003316499 RCV004530415
NM_198253.3(TERT):c.2141C>T (p.Thr714Met)	SNV Germline	Chr5:1278786	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Condition: not provided Dyskeratosis congenita, autosomal dominant 2 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184642	rs_772441504	5 SubmittersRCV002525587 RCV003233642 RCV003150818 RCV003150819 RCV004559084
NM_198253.3(TERT):c.2011C>T (p.Arg671Trp)	SNV Germline	Chr5:1279410	Likely pathogenic	Condition: not provided Hoyeraal-Hreidarsson syndrome Autosomal recessive dyskeratosis congenita 4 Autosomal recessive dyskeratosis congenita 4 Pulmonary fibrosis Telomere syndrome Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Multiple Submitters No Conflicts	CA16611699	rs_1060503011	8 SubmittersRCV001508166 RCV001753903 RCV002264699 RCV002509394 RCV003325407 RCV002523341 RCV004559086
NM_198253.3(TERT):c.3164C>T (p.Ser1055Leu)	SNV Germline	Chr5:1254499	Conflicting classifications of pathogenicity	Condition: not provided Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184255	rs_201330213	4 SubmittersRCV001753902 RCV002525586 RCV003470475 RCV005286091
NM_198253.3(TERT):c.1931C>T (p.Thr644Met)	SNV Germline	Chr5:1280177	Conflicting classifications of pathogenicity	Chronic diarrhea Immunodeficiency Decreased circulating immunoglobulin concentration Chronic obstructive pulmonary disease Condition: not provided Dyskeratosis congenita, autosomal dominant 2 7 conditions Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 TERT-related disorder Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184726	rs_201927653	7 SubmittersRCV002244939 RCV002307507 RCV003463952 RCV002506127 RCV002526430 RCV004539953 RCV004822060
NM_198253.3(TERT):c.403G>A (p.Gly135Arg)	SNV Germline	Chr5:1294483	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 not specified Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Condition: not provided Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184986	rs_200843534	7 SubmittersRCV001331997 RCV001821284 RCV002523330 RCV003318581 RCV005286090
NM_198253.3(TERT):c.2465G>A (p.Gly822Asp)	SNV Germline	Chr5:1271122	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184512	rs_757820442	3 SubmittersRCV002523340 RCV004568061 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 Condition: not provided Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita TERT-related disorder	Criteria Provided Conflicting Classifications	CA3184663	rs_373879259	6 SubmittersRCV000502349 RCV001151516 RCV001151514 RCV001151515 RCV001536535 RCV002526490 RCV004559102 RCV004541500
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 not specified Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Condition: not provided TERT-related disorder	Criteria Provided Conflicting Classifications	CA3184695	rs_778496417	7 SubmittersRCV001157052 RCV001157053 RCV001157054 RCV002257755 RCV001821371 RCV002525684 RCV003431033 RCV004541497
NM_198253.3(TERT):c.673G>C (p.Gly225Arg)	SNV Germline	Chr5:1294213	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA16611921	rs_1060502999	2 SubmittersRCV003103781 RCV004559076
NM_198253.3(TERT):c.2329G>A (p.Val777Met)	SNV Germline	Chr5:1272238	Conflicting classifications of pathogenicity	not specified Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 TERT-related disorder Dyskeratosis congenita, autosomal dominant 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA359076368	rs_1554040129	5 SubmittersRCV000500578 RCV003766854 RCV004535624 RCV005245499 RCV006277859
NM_198253.3(TERT):c.2301A>G (p.Thr767=)	SNV Germline	Chr5:1272266	Conflicting classifications of pathogenicity	not specified Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 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 Condition: not provided Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications	CA359079200	rs_1388515349	5 SubmittersRCV000503102 RCV001508163 RCV002527300 RCV005245500
NM_198253.3(TERT):c.2011C>G (p.Arg671Gly)	SNV Germline	Chr5:1279410	Conflicting classifications of pathogenicity	Dyskeratosis congenita Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Conflicting Classifications	CA359080693	rs_1060503011	2 SubmittersRCV000502929 RCV002524314
NM_198253.3(TERT):c.1462C>T (p.Leu488Phe)	SNV Germline	Chr5:1293424	Conflicting classifications of pathogenicity	not specified Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184839	rs_746216837	3 SubmittersRCV000502511 RCV002524311 RCV004822081
NM_198253.3(TERT):c.943C>A (p.Arg315Ser)	SNV Germline	Chr5:1293943	Conflicting classifications of pathogenicity	not specified Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 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 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184998	rs_768398792	3 SubmittersRCV000502707 RCV002527298 RCV004559135
NM_198253.3(TERT):c.359G>C (p.Arg120Pro)	SNV Germline	Chr5:1294527	Conflicting classifications of pathogenicity	not specified Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 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/Likely pathogenic	Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA3184569	rs_770066110	3 SubmittersRCV000677346 RCV002525003 RCV006260105
NM_198253.3(TERT):c.2287-5G>A	SNV Germline	Chr5:1272285	Conflicting classifications of pathogenicity	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 7 conditions Condition: not provided not specified Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita, autosomal dominant 2 TERT-related disorder Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184587	rs_561426406	9 SubmittersRCV000677347 RCV000765795 RCV001755759 RCV001821447 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 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications	CA3184681	rs_776981958	4 SubmittersRCV000677345 RCV001508165 RCV004701581 RCV005208586
NM_198253.3(TERT):c.2580C>T (p.Asp860=)	SNV Germline	Chr5:1268522	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 Melanoma, cutaneous malignant, susceptibility to, 9 Condition: not provided	Criteria Provided Conflicting Classifications	CA3184461	rs_751752830	5 SubmittersRCV001153599 RCV001153601 RCV001153600 RCV002530145 RCV004559199 RCV005235408 RCV005243285
NM_198253.3(TERT):c.2353C>G (p.Pro785Ala)	SNV Germline	Chr5:1272214	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Condition: not provided Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184560	rs_755822641	3 SubmittersRCV002530136 RCV002466532 RCV005749585
NM_198253.3(TERT):c.2081T>A (p.Val694Glu)	SNV Germline	Chr5:1279340	Conflicting classifications of pathogenicity	not specified Pulmonary fibrosis Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Condition: not provided	Criteria Provided Conflicting Classifications	CA359080169	rs_1026167666	4 SubmittersRCV001821575 RCV002509434 RCV002530125 RCV003228950
NM_198253.3(TERT):c.1937G>A (p.Arg646His)	SNV Germline	Chr5:1280171	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis 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	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis 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	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis 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	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Condition: not provided Dyskeratosis congenita TERT-related disorder	Criteria Provided Conflicting Classifications	CA3184631	rs_753929279	4 SubmittersRCV002530130 RCV003228951 RCV004559189 RCV004538046
NM_198253.3(TERT):c.1951-5G>A	SNV Germline	Chr5:1279475	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis 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	Aplastic anemia Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184721	rs_144821759	3 SubmittersRCV001157055 RCV001157056 RCV001253988 RCV002530115 RCV004559183
NM_198253.3(TERT):c.1829G>A (p.Arg610Gln)	SNV Germline	Chr5:1280279	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis 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	Condition: not provided Dyskeratosis congenita Aplastic anemia Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis TERT-related disorder Acute myeloid leukemia Dyskeratosis congenita, autosomal dominant 2 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Melanoma, cutaneous malignant, susceptibility to, 9	Criteria Provided Conflicting Classifications	CA3184914	rs_148798048	8 SubmittersRCV002260647 RCV002255455 RCV003333079 RCV002530175 RCV004735620 RCV005034105
NM_198253.3(TERT):c.193C>G (p.Pro65Ala)	SNV Germline	Chr5:1294797	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita Condition: not provided Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Conflicting Classifications	CA3185021	rs_544215765	7 SubmittersRCV001254604 RCV002256385 RCV003236816 RCV002530117
NM_198253.3(TERT):c.2885G>A (p.Arg962His)	SNV Germline	Chr5:1260559	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184350	rs_759490631	3 SubmittersRCV002530154 RCV003230269 RCV004559205
NM_198253.3(TERT):c.2702G>A (p.Arg901Gln)	SNV Germline	Chr5:1264545	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Acute myeloid leukemia Dyskeratosis congenita, autosomal dominant 2 Melanoma, cutaneous malignant, susceptibility to, 9 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	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis 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	Acute myeloid leukemia Dyskeratosis congenita, autosomal dominant 2 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Melanoma, cutaneous malignant, susceptibility to, 9 Condition: not provided Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184622	rs_150819225	6 SubmittersRCV000768106 RCV001559069 RCV002530132 RCV003470765 RCV004559190
NM_198253.3(TERT):c.1957C>T (p.Arg653Cys)	SNV Germline	Chr5:1279464	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184698	rs_372272356	3 SubmittersRCV002530120 RCV003470764 RCV005502835
NM_198253.3(TERT):c.1914C>T (p.Tyr638=)	SNV Germline	Chr5:1280194	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis 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	Dyskeratosis congenita Condition: not provided Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Conflicting Classifications	CA3184216	rs_764602705	5 SubmittersRCV002256386 RCV002307542 RCV002530163
NM_198253.3(TERT):c.2744G>A (p.Gly915Asp)	SNV Germline	Chr5:1264503	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis TERT-related disorder 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	CA3184405	rs_202033269	5 SubmittersRCV001788284 RCV002530150 RCV004543199 RCV005034104 RCV005278598
NM_198253.3(TERT):c.2652C>T (p.Leu884=)	SNV Germline	Chr5:1266466	Conflicting classifications of pathogenicity	Condition: not provided Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184439	rs_374309472	4 SubmittersRCV001770465 RCV002530147 RCV004559200
NM_198253.3(TERT):c.1269C>T (p.Ala423=)	SNV Germline	Chr5:1293617	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Aplastic anemia not specified Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Condition: not provided Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184862	rs_190411812	5 SubmittersRCV001155485 RCV001155487 RCV001155486 RCV001821573 RCV002530096 RCV003992323 RCV004559172
NM_198253.3(TERT):c.838G>A (p.Glu280Lys)	SNV Germline	Chr5:1294048	Conflicting classifications of pathogenicity	Interstitial lung disease 2 Condition: not provided not specified Dyskeratosis congenita 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 RCV001576510 RCV001821580 RCV002255456 RCV002530177 RCV003316717 RCV004760588 RCV005235410
NM_198253.3(TERT):c.645C>T (p.Gly215=)	SNV Germline	Chr5:1294241	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, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184937	rs_768426236	7 SubmittersRCV001157266 RCV001157268 RCV001529708 RCV001157267 RCV001821579 RCV002530173 RCV004559217
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 Dyskeratosis congenita TERT-related disorder	Criteria Provided Conflicting Classifications	CA3184291	rs_377419542	3 SubmittersRCV002533393 RCV004559292 RCV004533396
NM_198253.3(TERT):c.2523C>G (p.Leu841=)	SNV Germline	Chr5:1268579	Conflicting classifications of pathogenicity	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	CA359074714	rs_1554039733	3 SubmittersRCV001156210 RCV001156211 RCV001156212 RCV002533405 RCV004559304
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 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Melanoma, cutaneous malignant, susceptibility to, 9 Dyskeratosis congenita, autosomal dominant 2 Acute myeloid leukemia	Criteria Provided Conflicting Classifications	CA3184690	rs_372140951	3 SubmittersRCV002530510 RCV005286159 RCV005034217
NM_198253.3(TERT):c.1954G>A (p.Glu652Lys)	SNV Germline	Chr5:1279467	Conflicting classifications of pathogenicity	7 conditions Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Condition: not provided Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA359080888	rs_1228165704	5 SubmittersRCV002485456 RCV002533379 RCV003153788 RCV003472038 RCV004559285
NM_198253.3(TERT):c.1917C>T (p.Val639=)	SNV Germline	Chr5:1280191	Conflicting classifications of pathogenicity	not specified Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis TERT-related disorder Condition: not provided Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184731	rs_142989562	5 SubmittersRCV001816615 RCV002533407 RCV004544887 RCV006448509 RCV005502867
NM_198253.3(TERT):c.2884C>T (p.Arg962Cys)	SNV Germline	Chr5:1260560	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Condition: not provided Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184351	rs_144697790	4 SubmittersRCV002533382 RCV003228970 RCV004568447 RCV005286161
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 Condition: not provided	Criteria Provided Conflicting Classifications	CA3184415	rs_559028617	4 SubmittersRCV002533383 RCV004533394 RCV005502866 RCV006434438
NM_198253.3(TERT):c.2573G>A (p.Arg858Gln)	SNV Germline	Chr5:1268529	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis TERT-related disorder Dyskeratosis congenita, autosomal dominant 2 Condition: not provided Dyskeratosis congenita Acute myeloid leukemia Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Dyskeratosis congenita, autosomal dominant 2 Melanoma, cutaneous malignant, susceptibility to, 9	Criteria Provided Conflicting Classifications	CA3184463	rs_144779807	7 SubmittersRCV002533386 RCV004544885 RCV004568449 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 Condition: not provided Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis TERT-related disorder Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184848	rs_758110675	5 SubmittersRCV000765803 RCV003236829 RCV002533376 RCV004544884 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	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Condition: not provided Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184920	rs_776569822	3 SubmittersRCV003103822 RCV003328616 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_198253.3(TERT):c.1843G>A (p.Ala615Thr)	SNV Germline	Chr5:1280265	Conflicting classifications of pathogenicity	Condition: not provided not specified Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA112950366	rs_112614087	5 SubmittersRCV000659010 RCV001816660 RCV002534308 RCV005492861
NM_198253.3(TERT):c.1594G>A (p.Ala532Thr)	SNV Germline	Chr5:1282604	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Condition: not provided Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184796	rs_776459827	3 SubmittersRCV002534439 RCV004723116 RCV005749628
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 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	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	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184959	rs_770436206	3 SubmittersRCV002544769 RCV003388593 RCV004559353
NM_198253.3(TERT):c.180G>A (p.Trp60Ter)	SNV Germline	Chr5:1294810	Pathogenic	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Single Submitter	CA359058906	rs_1554043139	1 SubmittersRCV002544806
NM_198253.3(TERT):c.2591T>C (p.Leu864Pro)	SNV Germline	Chr5:1266527	Conflicting classifications of pathogenicity	not specified Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 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	Condition: not provided Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 not specified Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184519	rs_552708120	4 SubmittersRCV003222108 RCV002533539 RCV004586888 RCV005749619
NM_198253.3(TERT):c.2012G>A (p.Arg671Gln)	SNV Germline	Chr5:1279409	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita Acute myeloid leukemia Dyskeratosis congenita, autosomal dominant 2 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Melanoma, cutaneous malignant, susceptibility to, 9	Criteria Provided Conflicting Classifications	CA3184687	rs_774381540	3 SubmittersRCV002533651 RCV005278643 RCV005046959
NM_198253.3(TERT):c.1025G>A (p.Arg342Gln)	SNV Germline	Chr5:1293861	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 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	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 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 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications	CA3184282	rs_763381198	3 SubmittersRCV002256472 RCV002531489
NM_198253.3(TERT):c.2263G>A (p.Val755Ile)	SNV Germline	Chr5:1278664	Conflicting classifications of pathogenicity	Aplastic anemia Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Dyskeratosis congenita, autosomal dominant 2 not specified Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Acute myeloid leukemia Dyskeratosis congenita, autosomal dominant 2 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Melanoma, cutaneous malignant, susceptibility to, 9 Condition: not provided Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184615	rs_576633619	7 SubmittersRCV001151511 RCV001151512 RCV001151513 RCV001816702 RCV002547120 RCV005034294 RCV004777822 RCV006287236
NM_198253.3(TERT):c.554G>T (p.Arg185Leu)	SNV Germline	Chr5:1294332	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA112915226	rs_749187042	2 SubmittersRCV002534379 RCV004559625
NM_198253.3(TERT):c.3346G>A (p.Glu1116Lys)	SNV Germline	Chr5:1253781	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita TERT-related disorder	Criteria Provided Conflicting Classifications	CA359066706	rs_1196160200	3 SubmittersRCV002534659 RCV004559670 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 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA3184213	rs_376255453	4 SubmittersRCV001152717 RCV001152718 RCV001152719 RCV002534874 RCV003233860
NM_198253.3(TERT):c.3310A>T (p.Ser1104Cys)	SNV Germline	Chr5:1253817	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA359066865	rs_1579541768	2 SubmittersRCV002534746 RCV004559675
NM_198253.3(TERT):c.3187G>A (p.Gly1063Ser)	SNV Germline	Chr5:1254476	Pathogenic/Likely pathogenic	Condition: not provided Pulmonary fibrosis Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Multiple Submitters No Conflicts	CA112923449	rs_938938578	4 SubmittersRCV002508262 RCV002509553 RCV002534853 RCV004569706
NM_198253.3(TERT):c.3103G>A (p.Val1035Ile)	SNV Germline	Chr5:1255341	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Condition: not provided Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184284	rs_374968697	3 SubmittersRCV002538104 RCV003480856 RCV005278670
NM_198253.3(TERT):c.2887G>A (p.Gly963Ser)	SNV Germline	Chr5:1260557	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Condition: not provided Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA112930292	rs_201272197	3 SubmittersRCV002534600 RCV004777871 RCV005749645
NM_198253.3(TERT):c.2813G>A (p.Arg938Gln)	SNV Germline	Chr5:1264434	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 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.2776G>A (p.Gly926Ser)	SNV Germline	Chr5:1264471	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184397	rs_547377569	2 SubmittersRCV002538049 RCV004822215
NM_198253.3(TERT):c.2449G>A (p.Ala817Thr)	SNV Germline	Chr5:1271138	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita Dyskeratosis congenita, autosomal dominant 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA3184516	rs_778051907	4 SubmittersRCV002534756 RCV004559676 RCV004569603 RCV006275035
NM_198253.3(TERT):c.2368G>A (p.Val790Ile)	SNV Germline	Chr5:1272199	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 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	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Condition: not provided Dyskeratosis congenita Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications	CA3184619	rs_772070672	5 SubmittersRCV002535995 RCV003325525 RCV004559704 RCV004569783
NM_198253.3(TERT):c.2248G>A (p.Ala750Thr)	SNV Germline	Chr5:1278679	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA359078996	rs_1579574831	2 SubmittersRCV002535502 RCV004559700
NM_198253.3(TERT):c.2221G>T (p.Val741Leu)	SNV Germline	Chr5:1278706	Conflicting classifications of pathogenicity	not specified Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita, autosomal dominant 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA3184623	rs_150819225	4 SubmittersRCV001816876 RCV002537289 RCV004569650 RCV004773174
NM_198253.3(TERT):c.2108C>T (p.Pro703Leu)	SNV Germline	Chr5:1279313	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184670	rs_564647937	3 SubmittersRCV001250511 RCV002537414 RCV004559695
NM_198253.3(TERT):c.2105C>T (p.Pro702Leu)	SNV Germline	Chr5:1279316	Conflicting classifications of pathogenicity	Pulmonary fibrosis Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Condition: not provided Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Acute myeloid leukemia Dyskeratosis congenita, autosomal dominant 2 Melanoma, cutaneous malignant, susceptibility to, 9	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	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	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	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Condition: not provided Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184684	rs_773813809	3 SubmittersRCV003103841 RCV004783864 RCV005286216
NM_198253.3(TERT):c.2009C>T (p.Ala670Val)	SNV Germline	Chr5:1279412	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Condition: not provided Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184689	rs_767382450	4 SubmittersRCV002534823 RCV004588270 RCV004789207 RCV005502910
NM_198253.3(TERT):c.1864C>T (p.Arg622Cys)	SNV Germline	Chr5:1280244	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA359081681	rs_1579577192	3 SubmittersRCV002534884 RCV003229867 RCV006265307
NM_198253.3(TERT):c.1853C>T (p.Thr618Met)	SNV Germline	Chr5:1280255	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Condition: not provided Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184741	rs_746434205	3 SubmittersRCV002537316 RCV004773177 RCV005286222
NM_198253.3(TERT):c.1737T>A (p.Ser579Arg)	SNV Germline	Chr5:1282461	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 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	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Condition: not provided TERT-related disorder Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA112951893	rs_377217777	4 SubmittersRCV002538048 RCV003432774 RCV004528305 RCV005286221
NM_198253.3(TERT):c.1552G>T (p.Ala518Ser)	SNV Germline	Chr5:1293334	Conflicting classifications of pathogenicity	Dyskeratosis congenita Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA3184828	rs_551522837	4 SubmittersRCV002256553 RCV003103847 RCV004761835
NM_198253.3(TERT):c.1450G>T (p.Glu484Ter)	SNV Germline	Chr5:1293436	Pathogenic	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	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.1013A>G (p.Lys338Arg)	SNV Germline	Chr5:1293873	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA359055951	rs_1393461978	2 SubmittersRCV002534676 RCV004559671
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	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 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	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 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 Dyskeratosis congenita	Criteria Provided Multiple Submitters No Conflicts	CA359057024	rs_989271195	2 SubmittersRCV002538017 RCV006287265
NM_198253.3(TERT):c.567C>A (p.His189Gln)	SNV Germline	Chr5:1294319	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Condition: not provided Dyskeratosis congenita Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Acute myeloid leukemia Dyskeratosis congenita, autosomal dominant 2 Melanoma, cutaneous malignant, susceptibility to, 9	Criteria Provided Conflicting Classifications	CA3184955	rs_747935528	4 SubmittersRCV002538019 RCV003332255 RCV004559667 RCV005047074
NM_198253.3(TERT):c.566A>G (p.His189Arg)	SNV Germline	Chr5:1294320	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184956	rs_769638625	2 SubmittersRCV002537390 RCV004559691
NM_198253.3(TERT):c.76A>G (p.Thr26Ala)	SNV Germline	Chr5:1294914	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Condition: not provided Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA359059504	rs_1579599309	4 SubmittersRCV002537121 RCV003141795 RCV004559669
NM_198253.3(TERT):c.2383-5C>G	SNV Germline	Chr5:1271209	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184527	rs_373488315	2 SubmittersRCV002539945 RCV005492891
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_198253.3(TERT):c.3267C>T (p.Tyr1089=)	SNV Germline	Chr5:1254396	Conflicting classifications of pathogenicity	not specified Dyskeratosis congenita Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 TERT-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA3184240	rs_759883263	6 SubmittersRCV001816988 RCV002256570 RCV002539055 RCV004538288 RCV004569802
NM_198253.3(TERT):c.2469-9C>T	SNV Germline	Chr5:1268642	Conflicting classifications of pathogenicity	Dyskeratosis congenita Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications	CA3184489	rs_764029536	2 SubmittersRCV002258012 RCV002538978
NM_198253.3(TERT):c.2187C>T (p.Ile729=)	SNV Germline	Chr5:1278740	Conflicting classifications of pathogenicity	not specified Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis TERT-related disorder Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184630	rs_200819224	4 SubmittersRCV001817036 RCV002539221 RCV004530847 RCV004559753
NM_198253.3(TERT):c.3296-5C>T	SNV Germline	Chr5:1253836	Conflicting classifications of pathogenicity	not specified Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis 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_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_198253.3(TERT):c.3251G>A (p.Arg1084Gln)	SNV Germline	Chr5:1254412	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita 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	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis 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, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita TERT-related disorder Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA3184355	rs_370445231	7 SubmittersRCV002253765 RCV002551377 RCV004559843 RCV004536066 RCV005251242 RCV006279293
NM_198253.3(TERT):c.2750C>T (p.Thr917Met)	SNV Germline	Chr5:1264497	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Condition: not provided	Criteria Provided Conflicting Classifications	CA3184404	rs_779102560	2 SubmittersRCV002553948 RCV004726855
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 Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis 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	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis 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	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Condition: not provided Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Dyskeratosis congenita, autosomal dominant 2 Acute myeloid leukemia 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	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	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	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Condition: not provided Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA359082912	rs_1207489144	3 SubmittersRCV002554525 RCV005250132 RCV005749724
NM_198253.3(TERT):c.1580G>T (p.Gly527Val)	SNV Germline	Chr5:1282618	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA112951997	rs_1006357203	2 SubmittersRCV002555892 RCV004559900
NM_198253.3(TERT):c.1438T>C (p.Ser480Pro)	SNV Germline	Chr5:1293448	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA112957554	rs_917650159	2 SubmittersRCV002553196 RCV004559863
NM_198253.3(TERT):c.1339C>T (p.Arg447Cys)	SNV Germline	Chr5:1293547	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 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 Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA112914808	rs_1030156757	4 SubmittersRCV002298867 RCV002555899 RCV004559901
NM_198253.3(TERT):c.820T>A (p.Ser274Thr)	SNV Germline	Chr5:1294066	Conflicting classifications of pathogenicity	Dyskeratosis congenita Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Conflicting Classifications	CA359056640	rs_1751200603	2 SubmittersRCV004559882 RCV002553844
NM_198253.3(TERT):c.776C>T (p.Pro259Leu)	SNV Germline	Chr5:1294110	Conflicting classifications of pathogenicity	Dyskeratosis congenita Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Conflicting Classifications	CA3184917	rs_775613951	2 SubmittersRCV004559875 RCV002553335
NM_198253.3(TERT):c.592G>A (p.Gly198Arg)	SNV Germline	Chr5:1294294	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184950	rs_758442518	2 SubmittersRCV002554516 RCV004559894
NM_198253.3(TERT):c.2382+1G>C	SNV Germline	Chr5:1272184	Likely pathogenic	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Single Submitter	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 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications	CA359073144	rs_1748613384	3 SubmittersRCV001093474 RCV002554874
NM_198253.3(TERT):c.1401C>T (p.Ala467=)	SNV Germline	Chr5:1293485	Conflicting classifications of pathogenicity	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Aplastic anemia Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA443240716	rs_1751126189	3 SubmittersRCV001154651 RCV001154650 RCV001154652 RCV002557323 RCV004559907
NM_198253.3(TERT):c.696G>T (p.Leu232=)	SNV Germline	Chr5:1294190	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	Criteria Provided Conflicting Classifications	CA443239908	rs_1033402019	2 SubmittersRCV001155587 RCV001155589 RCV001155588 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_198253.3(TERT):c.230T>C (p.Leu77Pro)	SNV Germline	Chr5:1294656	Conflicting classifications of pathogenicity	Abnormal pulmonary interstitial morphology Condition: not provided Pulmonary fibrosis Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications	CA359058709	rs_1751271544	4 SubmittersRCV001172441 RCV001819874 RCV002509620 RCV003104009
NM_198253.3(TERT):c.2812C>T (p.Arg938Trp)	SNV Germline	Chr5:1264435	Pathogenic/Likely pathogenic	Abnormal pulmonary interstitial morphology Short telomere length Macrocytic anemia Premature graying of hair Condition: not provided Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Pulmonary fibrosis Dyskeratosis congenita	Criteria Provided Multiple Submitters No Conflicts	CA359071530	rs_1422814635	5 SubmittersRCV001172444 RCV001819875 RCV002559651 RCV002509621 RCV004559909
NM_198253.3(TERT):c.1891C>T (p.Arg631Trp)	SNV Germline	Chr5:1280217	Pathogenic/Likely pathogenic	Acute myeloid leukemia Condition: not provided Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Pulmonary fibrosis TERT-related disorder Dyskeratosis congenita	Criteria Provided Multiple Submitters No Conflicts	CA359081468	rs_1194223999	7 SubmittersRCV001172450 RCV001819876 RCV002558734 RCV002509622 RCV004734036 RCV004559910
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 Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Multiple Submitters No Conflicts	CA359073151	rs_1748613571	4 SubmittersRCV001819918 RCV003150824 RCV003150823 RCV003770256
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	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 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	Condition: not provided Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184749	rs_769540249	3 SubmittersRCV003324819 RCV003103930 RCV005278753
NM_198253.3(TERT):c.1292C>T (p.Pro431Leu)	SNV Germline	Chr5:1293594	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA359086349	rs_1164823749	2 SubmittersRCV002561184 RCV004559926
NM_198253.3(TERT):c.1574-1G>A	SNV Germline	Chr5:1282625	Likely pathogenic	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Single Submitter	CA359083627	rs_1750106866	1 SubmittersRCV002563064
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	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184747	rs_747940807	4 SubmittersRCV002563111 RCV003473789 RCV005749756
NM_198253.3(TERT):c.1450G>A (p.Glu484Lys)	SNV Germline	Chr5:1293436	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA359085576	rs_1561213355	2 SubmittersRCV003103935 RCV005749757
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_198253.3(TERT):c.1334C>G (p.Pro445Arg)	SNV Germline	Chr5:1293552	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis 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 Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Conflicting Classifications	CA3184916	rs_746036694	3 SubmittersRCV002256723 RCV002568661
NM_198253.3(TERT):c.2419G>A (p.Asp807Asn)	SNV Germline	Chr5:1271168	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis 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.1565G>A (p.Arg522Lys)	SNV Germline	Chr5:1293321	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA359085026	rs_1751108994	4 SubmittersRCV001267799 RCV002570420 RCV005749766
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	4 SubmittersRCV001268086 RCV002541635 RCV004557498
NM_198253.3(TERT):c.2764A>T (p.Met922Leu)	SNV Germline	Chr5:1264483	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita 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	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA359056059	rs_1438162956	2 SubmittersRCV002543194 RCV004557524
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 Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis 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.1192G>C (p.Gly398Arg)	SNV Germline	Chr5:1293694	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA359086593	rs_1413910260	2 SubmittersRCV002543769 RCV005749789
NM_198253.3(TERT):c.905A>G (p.Gln302Arg)	SNV Germline	Chr5:1293981	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA359056213	rs_1751188438	2 SubmittersRCV002543755 RCV004557534
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_198253.3(TERT):c.2286+1G>A	SNV Germline	Chr5:1278640	Likely pathogenic	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Condition: not provided Dyskeratosis congenita	Criteria Provided Multiple Submitters No Conflicts	CA359078622	rs_1749780301	3 SubmittersRCV002675447 RCV005429379 RCV004558797
NM_198253.3(TERT):c.1834G>A (p.Ala612Thr)	SNV Germline	Chr5:1280274	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA359081844	rs_1749932051	2 SubmittersRCV002546893 RCV004557547
NM_198253.3(TERT):c.1364A>T (p.His455Leu)	SNV Germline	Chr5:1293522	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184852	rs_781329984	3 SubmittersRCV002546931 RCV002329318 RCV004822364
NM_198253.3(TERT):c.1852A>G (p.Thr618Ala)	SNV Germline	Chr5:1280256	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA112950361	rs_995777798	2 SubmittersRCV002550144 RCV004557574
NM_198253.3(TERT):c.1570C>G (p.Pro524Ala)	SNV Germline	Chr5:1293316	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 TERT-related disorder Dyskeratosis congenita not specified	Criteria Provided Conflicting Classifications	CA112957459	rs_898648592	4 SubmittersRCV002550050 RCV004728674 RCV005503125 RCV004770113
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_198253.3(TERT):c.3026C>T (p.Ala1009Val)	SNV Germline	Chr5:1258604	Likely pathogenic	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Multiple Submitters No Conflicts	CA359068797	rs_866575708	2 SubmittersRCV001376142 RCV002550227
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_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 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 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 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA112915107	rs_1033402019	3 SubmittersRCV001820107 RCV002554015 RCV004557610
NM_198253.3(TERT):c.2131-5C>A	SNV Germline	Chr5:1278801	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 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	not specified Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA112915116	rs_989271195	3 SubmittersRCV001820127 RCV002555537 RCV004557643
NM_198253.3(TERT):c.456G>C (p.Leu152=)	SNV Germline	Chr5:1294430	Conflicting classifications of pathogenicity	Dyskeratosis congenita Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications	CA3184975	rs_757121533	3 SubmittersRCV002256771 RCV002555511
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 Dyskeratosis congenita Condition: not provided	Criteria Provided Conflicting Classifications	CA443240690	rs_1396093690	3 SubmittersRCV002561995 RCV004557704 RCV005369891
NM_198253.3(TERT):c.2851C>A (p.Arg951=)	SNV Germline	Chr5:1260593	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis TERT-related disorder Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184354	rs_370445231	3 SubmittersRCV002562650 RCV004540419 RCV006287459
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_198253.3(TERT):c.171C>T (p.Cys57=)	SNV Germline	Chr5:1294819	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA443005676	rs_1189644919	2 SubmittersRCV002563326 RCV006287471
NM_198253.3(TERT):c.2312C>T (p.Pro771Leu)	SNV Germline	Chr5:1272255	Conflicting classifications of pathogenicity	Condition: not provided Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA359076428	rs_1309399887	5 SubmittersRCV001723468 RCV003771871 RCV004690124 RCV005493065
NM_198253.3(TERT):c.2131-16G>A	SNV Germline	Chr5:1278812	Conflicting classifications of pathogenicity	Condition: not provided Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Conflicting Classifications	CA3184647	rs_146768484	2 SubmittersRCV003237483 RCV002540730
NM_198253.3(TERT):c.329G>C (p.Gly110Ala)	SNV Germline	Chr5:1294557	Conflicting classifications of pathogenicity	Condition: not provided Pulmonary fibrosis Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA359058282	rs_1751262771	4 SubmittersRCV001806957 RCV002509702 RCV002542371 RCV005749859
NM_198253.3(TERT):c.2844-12C>A	SNV Germline	Chr5:1260612	Conflicting classifications of pathogenicity	not specified Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Conflicting Classifications	CA3184364	rs_199765802	2 SubmittersRCV001817430 RCV002542532
NM_198253.3(TERT):c.2318T>C (p.Met773Thr)	SNV Germline	Chr5:1272249	Conflicting classifications of pathogenicity	not specified Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Conflicting Classifications	CA359076408	rs_2126617890	3 SubmittersRCV001819414 RCV005863489 RCV006557791
NM_198253.3(TERT):c.3157+1G>T	SNV Germline	Chr5:1255286	Likely pathogenic	Condition: not provided Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Multiple Submitters No Conflicts	CA359067985	rs_2126562296	2 SubmittersRCV001817788 RCV003772338
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
NM_198253.3(TERT):c.624G>T (p.Arg208Ser)	SNV Germline	Chr5:1294262	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 TERT-related disorder Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA359057153	rs_773987859	3 SubmittersRCV002569272 RCV004734372 RCV005749952
NM_198253.3(TERT):c.2746G>A (p.Gly916Ser)	SNV Germline	Chr5:1264501	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications	CA359071924	rs_1189683846	3 SubmittersRCV002548055 RCV004558679 RCV005245524
NM_198253.3(TERT):c.1181T>A (p.Leu394Gln)	SNV Germline	Chr5:1293705	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita Condition: not provided	Criteria Provided Conflicting Classifications	CA359086624	rs_1357160289	3 SubmittersRCV002571298 RCV004558771 RCV005868509
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_198253.3(TERT):c.77C>T (p.Thr26Met)	SNV Germline	Chr5:1294913	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3185025	rs_760727529	2 SubmittersRCV002550983 RCV004558685
NM_198253.3(TERT):c.598G>T (p.Glu200Ter)	SNV Germline	Chr5:1294288	Pathogenic	Dyskeratosis congenita Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Multiple Submitters No Conflicts	CA359057233	rs_1322987070	2 SubmittersRCV006302443 RCV002555249
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_198253.3(TERT):c.2908A>C (p.Met970Leu)	SNV Germline	Chr5:1260536	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita Condition: not provided	Criteria Provided Conflicting Classifications	CA3184347	rs_762647113	3 SubmittersRCV002560557 RCV004558742 RCV005635326
NM_198253.3(TERT):c.2353C>T (p.Pro785Ser)	SNV Germline	Chr5:1272214	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	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_198253.3(TERT):c.3118G>A (p.Ala1040Thr)	SNV Germline	Chr5:1255326	Likely pathogenic	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Telomere syndrome	Criteria Provided Single Submitter	CA359068120	rs_770144114	2 SubmittersRCV002579662 RCV003325413
NM_198253.3(TERT):c.1612G>T (p.Glu538Ter)	SNV Germline	Chr5:1282586	Pathogenic	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Single Submitter	CA359083465	rs_2126649912	1 SubmittersRCV002562752
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_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	Dyskeratosis congenita Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications	CA3184365	rs_199765802	2 SubmittersRCV002256898 RCV002551298
NM_198253.3(TERT):c.3033-13G>A	SNV Germline	Chr5:1255424	Conflicting classifications of pathogenicity	Dyskeratosis congenita Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	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_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 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Dyskeratosis congenita, autosomal dominant 2 Melanoma, cutaneous malignant, susceptibility to, 9	Criteria Provided Conflicting Classifications	CA2573138605	rs_2126573743	2 SubmittersRCV002562254 RCV005032148
NM_198253.3(TERT):c.2131-2A>G	SNV Germline	Chr5:1278798	Likely pathogenic	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA359079789	rs_1749799292	3 SubmittersRCV002331859 RCV003101364 RCV005648212
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_198253.3(TERT):c.3373T>G (p.Ser1125Ala)	SNV Germline	Chr5:1253754	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	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_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_198253.3(TERT):c.2346G>T (p.Glu782Asp)	SNV Germline	Chr5:1272221	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 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	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA359074195	rs_1748783254	2 SubmittersRCV003101979 RCV004559583
NM_198253.3(TERT):c.1784G>A (p.Arg595Lys)	SNV Germline	Chr5:1280324	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA359082100	rs_1388629976	2 SubmittersRCV003073237 RCV006307296
NM_198253.3(TERT):c.2113G>A (p.Glu705Lys)	SNV Germline	Chr5:1279308	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA359080037	rs_2478274631	2 SubmittersRCV003080428 RCV004560040
NM_198253.3(TERT):c.3032+1G>C	SNV Germline	Chr5:1258597	Likely pathogenic	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Single Submitter	CA359068778	rs_2478106403	1 SubmittersRCV002622217
NM_198253.3(TERT):c.2074A>G (p.Thr692Ala)	SNV Germline	Chr5:1279347	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA359080218	rs_2478275359	2 SubmittersRCV002680872 RCV005752075
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	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Single Submitter	CA359076171	rs_1749089374	1 SubmittersRCV002834223
NM_198253.3(TERT):c.2323C>T (p.Gln775Ter)	SNV Germline	Chr5:1272244	Pathogenic	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Multiple Submitters No Conflicts	CA359076394	rs_2478210028	2 SubmittersRCV002918325 RCV005245533
NM_198253.3(TERT):c.2130+1G>C	SNV Germline	Chr5:1279290	Likely pathogenic	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Single Submitter	CA359079907	rs_1749840545	1 SubmittersRCV002929149
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_198253.3(TERT):c.2092C>T (p.Arg698Trp)	SNV Germline	Chr5:1279329	Conflicting classifications of pathogenicity	not specified Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Condition: not provided	Criteria Provided Conflicting Classifications	CA112949458	rs_866282352	5 SubmittersRCV003151670 RCV003778908 RCV004593221
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_198253.3(TERT):c.1246C>T (p.Arg416Ter)	SNV Germline	Chr5:1293640	Pathogenic	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Single Submitter	CA359086444	rs_2478412591	1 SubmittersRCV003782297
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_198253.3(TERT):c.389C>T (p.Ala130Val)	SNV Germline	Chr5:1294497	Likely pathogenic	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Single Submitter	CA359058127	rs_1751253944	1 SubmittersRCV003786505
NM_198253.3(TERT):c.1393G>T (p.Val465Leu)	SNV Germline	Chr5:1293493	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA359085812	rs_758110675	2 SubmittersRCV003792227 RCV006307455
NM_198253.3(TERT):c.1544G>A (p.Arg515Gln)	SNV Germline	Chr5:1293342	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA359085097	rs_2478407891	2 SubmittersRCV003807818 RCV004823230
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_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_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_198253.3(TERT):c.2130+2T>G	SNV Germline	Chr5:1279289	Likely pathogenic	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Single Submitter	CA359079897	rs_1160960250	1 SubmittersRCV003803273
NM_198253.3(TERT):c.1574-1G>C	SNV Germline	Chr5:1282625	Likely pathogenic	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Single Submitter	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_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_198253.3(TERT):c.2380C>T (p.Gln794Ter)	SNV Germline	Chr5:1272187	Pathogenic	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Single Submitter	CA359076186	rs_2478209197	1 SubmittersRCV003809225
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_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_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_198253.3(TERT):c.2669G>A (p.Gly890Asp)	SNV Germline	Chr5:1264578	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Condition: not provided Dyskeratosis congenita	Criteria Provided Conflicting Classifications			3 SubmittersRCV005212934 RCV005230874 RCV005291224
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_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_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_198253.3(TERT):c.1708A>T (p.Lys570Ter)	SNV Germline	Chr5:1282490	Pathogenic	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Single Submitter			1 SubmittersRCV006590980
NM_198253.3(TERT):c.2921T>G (p.Leu974Arg)	SNV Germline	Chr5:1260523	Likely pathogenic	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Single Submitter			1 SubmittersRCV006598333
NM_198253.3(TERT):c.3158-1G>C	SNV Germline	Chr5:1254506	Likely pathogenic	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Single Submitter			1 SubmittersRCV006591243

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

Criteria Provided
Conflicting Classifications

CA122653

rs_121918661

21 SubmittersRCV000013566 RCV000032398 RCV000489117 RCV000604322 RCV000758251 RCV002255997 RCV002513013 RCV004541000

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

SNV
Germline

Chr5:1293652

Conflicting classifications of pathogenicity

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Aplastic anemia
Autosomal recessive dyskeratosis congenita 4
not specified
Dyskeratosis congenita, autosomal dominant 2
Condition: not provided
Dyskeratosis congenita
Dyskeratosis congenita, autosomal dominant 2
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

Criteria Provided
Conflicting Classifications

CA122655

rs_34094720

17 SubmittersRCV000013567 RCV000032365 RCV000190902 RCV000218461 RCV000262966 RCV000425346 RCV002255259 RCV002513014 RCV003224095

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

Criteria Provided
Conflicting Classifications

CA122657

rs_121918662

8 SubmittersRCV000013568 RCV000032373 RCV002513015 RCV002509152 RCV003441715 RCV004532332 RCV004558246

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
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

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

Criteria Provided
Multiple Submitters
No Conflicts

CA122668

rs_199422309

4 SubmittersRCV000013575 RCV000032380 RCV002513017 RCV004700226

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

Criteria Provided
Multiple Submitters
No Conflicts

CA128724

rs_199422294

12 SubmittersRCV000022783 RCV000032370 RCV000677344 RCV003325404 RCV003150932 RCV002513175 RCV002509167 RCV004558270

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

SNV
Germline

Chr5:1271156

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA128727

rs_199422301

7 SubmittersRCV000022784 RCV000032383 RCV001797047 RCV002051796 RCV002513176 RCV005278528 RCV005237404

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
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA128729

rs_199422304

4 SubmittersRCV000022785 RCV000032388 RCV003764630 RCV004558271

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

SNV
Germline

Chr5:1272196

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA044696

rs_141425941

8 SubmittersRCV001549913 RCV002518376 RCV003325196 RCV003992244 RCV004734891 RCV004822024 RCV005625474

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

SNV
Germline

Chr5:1266519

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA044715

rs_201159197

2 SubmittersRCV002327153 RCV002518411 RCV002509334

NM_198253.3(TERT):c.508G>A (p.Val170Met)

SNV
Germline

Chr5:1294378

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA129982

rs_387907248

6 SubmittersRCV000030628 RCV000765805 RCV002513271 RCV003473153 RCV004532429 RCV005749512

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

SNV
Germline

Chr5:1278781

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA129984

rs_387907249

6 SubmittersRCV000030629 RCV002513272 RCV003447479

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

SNV
Germline

Chr5:1264479

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA343424

rs_199422293

6 SubmittersRCV000032367 RCV002326716 RCV002509174 RCV002514131 RCV004558276 RCV004808559 RCV006456631

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

10 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
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA343437

rs_199422298

8 SubmittersRCV000032376 RCV001576802 RCV002514132 RCV004786285 RCV004558279 RCV005859475

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

SNV
Germline

Chr5:1278750

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA343442

rs_149566858

10 SubmittersRCV000032378 RCV000987499 RCV001818203 RCV002514133 RCV003137552 RCV003466884 RCV004532476 RCV005031467 RCV005278529

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

SNV
Germline/somatic

Chr5:1260509

Conflicting classifications of pathogenicity

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
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Conflicting Classifications

CA170795

rs_199422305

6 SubmittersRCV000032390 RCV000144245 RCV002509176 RCV002513300 RCV005250001 RCV005867803

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

19 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
Pulmonary fibrosis
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Conflicting Classifications

CA343461

rs_199422291

5 SubmittersRCV000032397 RCV000256024 RCV002509178 RCV002513303

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

SNV
Germline

Chr5:1255339

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA178124

rs_181612536

16 SubmittersRCV000151993 RCV000313027 RCV000366513 RCV000399240 RCV001560519 RCV002256086 RCV002514931 RCV005863001

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
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA208776

rs_797046042

6 SubmittersRCV000194545 RCV000515155 RCV001172445 RCV003105822 RCV005749525

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

SNV
Germline

Chr5:1294052

Conflicting classifications of pathogenicity

not specified
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

CA3184905

rs_375423906

4 SubmittersRCV000218700 RCV001155583 RCV001152948 RCV001152947 RCV002517511 RCV004558465

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

SNV
Germline

Chr5:1253794

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3184242

rs_200288187

10 SubmittersRCV001820783 RCV003126647 RCV002518382 RCV003469173 RCV004734892 RCV004822025 RCV005031821

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

Criteria Provided
Conflicting Classifications

CA10582350

rs_878855303

4 SubmittersRCV001820781 RCV002519813 RCV003237799 RCV004541460

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

SNV
Germline

Chr5:1264478

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3184401

rs_200174990

8 SubmittersRCV000499661 RCV000732368 RCV002256178 RCV002518377 RCV003316311

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

SNV
Germline

Chr5:1278672

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3184618

rs_375699185

5 SubmittersRCV000502003 RCV002255341 RCV002519811 RCV006450097

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

Criteria Provided
Conflicting Classifications

CA3184667

rs_765264494

6 SubmittersRCV000503916 RCV001151517 RCV001154529 RCV001151518 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
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA3184671

rs_151055240

13 SubmittersRCV000250893 RCV000273101 RCV000302865 RCV000357715 RCV001529280 RCV002518372 RCV004558593

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

SNV
Germline

Chr5:1279323

Pathogenic

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

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
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Aplastic anemia
Dyskeratosis congenita, autosomal dominant 2
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 RCV001155363 RCV001155364 RCV001155365 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
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita, autosomal dominant 2
TERT-related disorder

Criteria Provided
Conflicting Classifications

CA3184723

rs_147521473

8 SubmittersRCV001820780 RCV001775705 RCV002256176 RCV002518369 RCV003469172 RCV004734890

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

SNV
Germline

Chr5:1293550

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3184855

rs_567650961

8 SubmittersRCV001356732 RCV002255339 RCV003151000 RCV002518367 RCV004532971

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

SNV
Germline

Chr5:1293555

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10582362

rs_878855299

4 SubmittersRCV001292603 RCV003325475 RCV002518366 RCV004558590

NM_198253.3(TERT):c.339G>A (p.Glu113=)

SNV
Germline

Chr5:1294547

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3184992

rs_757141480

3 SubmittersRCV002518384 RCV004558599 RCV006270364

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

SNV
Germline/somatic

Chr5:1295046

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10582367

rs_878855297

11 SubmittersRCV000034312 RCV001820777 RCV003332157 RCV002519807 RCV003475834 RCV004668870 RCV004822022 RCV006253924

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

SNV
Germline

Chr5:1280259

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

Criteria Provided
Conflicting Classifications

CA3184742

rs_140951453

8 SubmittersRCV000244189 RCV000287182 RCV000336462 RCV000372475 RCV001580477 RCV002518668 RCV003316456 RCV004558609 RCV005235242

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

SNV
Germline

Chr5:1282413

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3184775

rs_202108457

3 SubmittersRCV000248852 RCV003105841 RCV004558608

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

SNV
Germline

Chr5:1271132

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10588390

rs_746621306

4 SubmittersRCV000256149 RCV002256186 RCV002518756

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

SNV
Germline

Chr5:1282498

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10588391

rs_886039438

5 SubmittersRCV000255577 RCV002518755 RCV004558612 RCV005860055

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

8 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
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

CA3184396

rs_370292237

3 SubmittersRCV000285766 RCV000343040 RCV000376627 RCV002520298 RCV004558620

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

SNV
Germline

Chr5:1271196

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3185020

rs_573817924

10 SubmittersRCV000266345 RCV000324023 RCV000357781 RCV000613962 RCV001528455 RCV002520305 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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3184437

rs_375473823

4 SubmittersRCV000274620 RCV000315371 RCV000367753 RCV002520299 RCV004544653 RCV006447050

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

SNV
Germline

Chr5:1255294

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3184275

rs_373400596

8 SubmittersRCV000309581 RCV000344253 RCV000398654 RCV001815383 RCV002255372 RCV002509370 RCV002523498

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

SNV
Germline

Chr5:1260558

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3184933

rs_35837567

5 SubmittersRCV000312452 RCV000355603 RCV000403911 RCV002520303 RCV004558621 RCV005434861 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
Dyskeratosis congenita
not specified
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Condition: not provided
Acute myeloid leukemia
TERT-related disorder

Criteria Provided
Conflicting Classifications

CA3184953

rs_11952056

9 SubmittersRCV000296917 RCV000354116 RCV000404356 RCV002257653 RCV001821075 RCV002520304 RCV003137968 RCV003316499 RCV004530415

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

SNV
Germline

Chr5:1278786

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3184642

rs_772441504

5 SubmittersRCV002525587 RCV003233642 RCV003150818 RCV003150819 RCV004559084

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

SNV
Germline

Chr5:1279410

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16611699

rs_1060503011

8 SubmittersRCV001508166 RCV001753903 RCV002264699 RCV002509394 RCV003325407 RCV002523341 RCV004559086

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

SNV
Germline

Chr5:1254499

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3184255

rs_201330213

4 SubmittersRCV001753902 RCV002525586 RCV003470475 RCV005286091

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

SNV
Germline

Chr5:1280177

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3184726

rs_201927653

7 SubmittersRCV002244939 RCV002307507 RCV003463952 RCV002506127 RCV002526430 RCV004539953 RCV004822060

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

SNV
Germline

Chr5:1294483

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3184986

rs_200843534

7 SubmittersRCV001331997 RCV001821284 RCV002523330 RCV003318581 RCV005286090

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

SNV
Germline

Chr5:1271122

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3184512

rs_757820442

3 SubmittersRCV002523340 RCV004568061 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
Condition: not provided
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita
TERT-related disorder

Criteria Provided
Conflicting Classifications

CA3184663

rs_373879259

6 SubmittersRCV000502349 RCV001151516 RCV001151514 RCV001151515 RCV001536535 RCV002526490 RCV004559102 RCV004541500

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

Criteria Provided
Conflicting Classifications

CA3184695

rs_778496417

7 SubmittersRCV001157052 RCV001157053 RCV001157054 RCV002257755 RCV001821371 RCV002525684 RCV003431033 RCV004541497

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

SNV
Germline

Chr5:1294213

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA16611921

rs_1060502999

2 SubmittersRCV003103781 RCV004559076

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

SNV
Germline

Chr5:1272238

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA359076368

rs_1554040129

5 SubmittersRCV000500578 RCV003766854 RCV004535624 RCV005245499 RCV006277859

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

SNV
Germline

Chr5:1272266

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA359079200

rs_1388515349

5 SubmittersRCV000503102 RCV001508163 RCV002527300 RCV005245500

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

SNV
Germline

Chr5:1279410

Conflicting classifications of pathogenicity

Dyskeratosis congenita
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Conflicting Classifications

CA359080693

rs_1060503011

2 SubmittersRCV000502929 RCV002524314

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

SNV
Germline

Chr5:1293424

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3184839

rs_746216837

3 SubmittersRCV000502511 RCV002524311 RCV004822081

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

SNV
Germline

Chr5:1293943

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3184998

rs_768398792

3 SubmittersRCV000502707 RCV002527298 RCV004559135

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

SNV
Germline

Chr5:1294527

Conflicting classifications of pathogenicity

not specified
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
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/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA3184569

rs_770066110

3 SubmittersRCV000677346 RCV002525003 RCV006260105

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

SNV
Germline

Chr5:1272285

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3184587

rs_561426406

9 SubmittersRCV000677347 RCV000765795 RCV001755759 RCV001821447 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
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Conflicting Classifications

CA3184681

rs_776981958

4 SubmittersRCV000677345 RCV001508165 RCV004701581 RCV005208586

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

SNV
Germline

Chr5:1268522

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
Melanoma, cutaneous malignant, susceptibility to, 9
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3184461

rs_751752830

5 SubmittersRCV001153599 RCV001153601 RCV001153600 RCV002530145 RCV004559199 RCV005235408 RCV005243285

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

SNV
Germline

Chr5:1272214

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3184560

rs_755822641

3 SubmittersRCV002530136 RCV002466532 RCV005749585

NM_198253.3(TERT):c.2081T>A (p.Val694Glu)

SNV
Germline

Chr5:1279340

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA359080169

rs_1026167666

4 SubmittersRCV001821575 RCV002509434 RCV002530125 RCV003228950

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

SNV
Germline

Chr5:1280171

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
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

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
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

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
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

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

Criteria Provided
Conflicting Classifications

CA3184631

rs_753929279

4 SubmittersRCV002530130 RCV003228951 RCV004559189 RCV004538046

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

SNV
Germline

Chr5:1279475

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
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

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

Criteria Provided
Conflicting Classifications

CA3184721

rs_144821759

3 SubmittersRCV001157055 RCV001157056 RCV001253988 RCV002530115 RCV004559183

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

SNV
Germline

Chr5:1280279

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
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

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

Criteria Provided
Conflicting Classifications

CA3184914

rs_148798048

8 SubmittersRCV002260647 RCV002255455 RCV003333079 RCV002530175 RCV004735620 RCV005034105

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

SNV
Germline

Chr5:1294797

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3185021

rs_544215765

7 SubmittersRCV001254604 RCV002256385 RCV003236816 RCV002530117

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

SNV
Germline

Chr5:1260559

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3184350

rs_759490631

3 SubmittersRCV002530154 RCV003230269 RCV004559205

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

SNV
Germline

Chr5:1264545

Conflicting classifications of pathogenicity

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

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
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

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

Criteria Provided
Conflicting Classifications

CA3184622

rs_150819225

6 SubmittersRCV000768106 RCV001559069 RCV002530132 RCV003470765 RCV004559190

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

SNV
Germline

Chr5:1279464

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3184698

rs_372272356

3 SubmittersRCV002530120 RCV003470764 RCV005502835

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

SNV
Germline

Chr5:1280194

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
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

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

Criteria Provided
Conflicting Classifications

CA3184216

rs_764602705

5 SubmittersRCV002256386 RCV002307542 RCV002530163

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

SNV
Germline

Chr5:1264503

Conflicting classifications of pathogenicity

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

CA3184405

rs_202033269

5 SubmittersRCV001788284 RCV002530150 RCV004543199 RCV005034104 RCV005278598

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

SNV
Germline

Chr5:1266466

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3184439

rs_374309472

4 SubmittersRCV001770465 RCV002530147 RCV004559200

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

SNV
Germline

Chr5:1293617

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3184862

rs_190411812

5 SubmittersRCV001155485 RCV001155487 RCV001155486 RCV001821573 RCV002530096 RCV003992323 RCV004559172

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

SNV
Germline

Chr5:1294048

Conflicting classifications of pathogenicity

Interstitial lung disease 2
Condition: not provided
not specified
Dyskeratosis congenita
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 RCV001576510 RCV001821580 RCV002255456 RCV002530177 RCV003316717 RCV004760588 RCV005235410

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

SNV
Germline

Chr5:1294241

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, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA3184937

rs_768426236

7 SubmittersRCV001157266 RCV001157268 RCV001529708 RCV001157267 RCV001821579 RCV002530173 RCV004559217

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
Dyskeratosis congenita
TERT-related disorder

Criteria Provided
Conflicting Classifications

CA3184291

rs_377419542

3 SubmittersRCV002533393 RCV004559292 RCV004533396

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

SNV
Germline

Chr5:1268579

Conflicting classifications of pathogenicity

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

CA359074714

rs_1554039733

3 SubmittersRCV001156210 RCV001156211 RCV001156212 RCV002533405 RCV004559304

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

Criteria Provided
Conflicting Classifications

CA3184690

rs_372140951

3 SubmittersRCV002530510 RCV005286159 RCV005034217

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

SNV
Germline

Chr5:1279467

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA359080888

rs_1228165704

5 SubmittersRCV002485456 RCV002533379 RCV003153788 RCV003472038 RCV004559285

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

SNV
Germline

Chr5:1280191

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3184731

rs_142989562

5 SubmittersRCV001816615 RCV002533407 RCV004544887 RCV006448509 RCV005502867

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

SNV
Germline

Chr5:1260560

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3184351

rs_144697790

4 SubmittersRCV002533382 RCV003228970 RCV004568447 RCV005286161

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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3184415

rs_559028617

4 SubmittersRCV002533383 RCV004533394 RCV005502866 RCV006434438

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

SNV
Germline

Chr5:1268529

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3184463

rs_144779807

7 SubmittersRCV002533386 RCV004544885 RCV004568449 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
Condition: not provided
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
TERT-related disorder
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA3184848

rs_758110675

5 SubmittersRCV000765803 RCV003236829 RCV002533376 RCV004544884 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

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

Criteria Provided
Conflicting Classifications

CA3184920

rs_776569822

3 SubmittersRCV003103822 RCV003328616 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_198253.3(TERT):c.1843G>A (p.Ala615Thr)

SNV
Germline

Chr5:1280265

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA112950366

rs_112614087

5 SubmittersRCV000659010 RCV001816660 RCV002534308 RCV005492861

NM_198253.3(TERT):c.1594G>A (p.Ala532Thr)

SNV
Germline

Chr5:1282604

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3184796

rs_776459827

3 SubmittersRCV002534439 RCV004723116 RCV005749628

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
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

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

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

Criteria Provided
Conflicting Classifications

CA3184959

rs_770436206

3 SubmittersRCV002544769 RCV003388593 RCV004559353

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

SNV
Germline

Chr5:1294810

Pathogenic

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Single Submitter

CA359058906

rs_1554043139

1 SubmittersRCV002544806

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

SNV
Germline

Chr5:1266527

Conflicting classifications of pathogenicity

not specified
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
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

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

Criteria Provided
Conflicting Classifications

CA3184519

rs_552708120

4 SubmittersRCV003222108 RCV002533539 RCV004586888 RCV005749619

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

SNV
Germline

Chr5:1279409

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3184687

rs_774381540

3 SubmittersRCV002533651 RCV005278643 RCV005046959

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

SNV
Germline

Chr5:1293861

Conflicting classifications of pathogenicity

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
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

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

Criteria Provided
Conflicting Classifications

CA3184282

rs_763381198

3 SubmittersRCV002256472 RCV002531489

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

SNV
Germline

Chr5:1278664

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3184615

rs_576633619

7 SubmittersRCV001151511 RCV001151512 RCV001151513 RCV001816702 RCV002547120 RCV005034294 RCV004777822 RCV006287236

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

SNV
Germline

Chr5:1294332

Conflicting classifications of pathogenicity

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA112915226

rs_749187042

2 SubmittersRCV002534379 RCV004559625

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

SNV
Germline

Chr5:1253781

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA359066706

rs_1196160200

3 SubmittersRCV002534659 RCV004559670 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
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3184213

rs_376255453

4 SubmittersRCV001152717 RCV001152718 RCV001152719 RCV002534874 RCV003233860

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

SNV
Germline

Chr5:1253817

Conflicting classifications of pathogenicity

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA359066865

rs_1579541768

2 SubmittersRCV002534746 RCV004559675

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

SNV
Germline

Chr5:1254476

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA112923449

rs_938938578

4 SubmittersRCV002508262 RCV002509553 RCV002534853 RCV004569706

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

SNV
Germline

Chr5:1255341

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3184284

rs_374968697

3 SubmittersRCV002538104 RCV003480856 RCV005278670

NM_198253.3(TERT):c.2887G>A (p.Gly963Ser)

SNV
Germline

Chr5:1260557

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA112930292

rs_201272197

3 SubmittersRCV002534600 RCV004777871 RCV005749645

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

SNV
Germline

Chr5:1264434

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
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.2776G>A (p.Gly926Ser)

SNV
Germline

Chr5:1264471

Conflicting classifications of pathogenicity

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA3184397

rs_547377569

2 SubmittersRCV002538049 RCV004822215

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

SNV
Germline

Chr5:1271138

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3184516

rs_778051907

4 SubmittersRCV002534756 RCV004559676 RCV004569603 RCV006275035

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

SNV
Germline

Chr5:1272199

Conflicting classifications of pathogenicity

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
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

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

Criteria Provided
Conflicting Classifications

CA3184619

rs_772070672

5 SubmittersRCV002535995 RCV003325525 RCV004559704 RCV004569783

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

SNV
Germline

Chr5:1278679

Conflicting classifications of pathogenicity

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA359078996

rs_1579574831

2 SubmittersRCV002535502 RCV004559700

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

SNV
Germline

Chr5:1278706

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3184623

rs_150819225

4 SubmittersRCV001816876 RCV002537289 RCV004569650 RCV004773174

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

SNV
Germline

Chr5:1279313

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3184670

rs_564647937

3 SubmittersRCV001250511 RCV002537414 RCV004559695

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

SNV
Germline

Chr5:1279316

Conflicting classifications of pathogenicity

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

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

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

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

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

Criteria Provided
Conflicting Classifications

CA3184684

rs_773813809

3 SubmittersRCV003103841 RCV004783864 RCV005286216

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

SNV
Germline

Chr5:1279412

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3184689

rs_767382450

4 SubmittersRCV002534823 RCV004588270 RCV004789207 RCV005502910

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

SNV
Germline

Chr5:1280244

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA359081681

rs_1579577192

3 SubmittersRCV002534884 RCV003229867 RCV006265307

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

SNV
Germline

Chr5:1280255

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3184741

rs_746434205

3 SubmittersRCV002537316 RCV004773177 RCV005286222

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

SNV
Germline

Chr5:1282461

Conflicting classifications of pathogenicity

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
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

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

Criteria Provided
Conflicting Classifications

CA112951893

rs_377217777

4 SubmittersRCV002538048 RCV003432774 RCV004528305 RCV005286221

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

SNV
Germline

Chr5:1293334

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3184828

rs_551522837

4 SubmittersRCV002256553 RCV003103847 RCV004761835

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

SNV
Germline

Chr5:1293436

Pathogenic

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

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.1013A>G (p.Lys338Arg)

SNV
Germline

Chr5:1293873

Conflicting classifications of pathogenicity

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA359055951

rs_1393461978

2 SubmittersRCV002534676 RCV004559671

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

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
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

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
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
Dyskeratosis congenita

Criteria Provided
Multiple Submitters
No Conflicts

CA359057024

rs_989271195

2 SubmittersRCV002538017 RCV006287265

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

SNV
Germline

Chr5:1294319

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3184955

rs_747935528

4 SubmittersRCV002538019 RCV003332255 RCV004559667 RCV005047074

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

SNV
Germline

Chr5:1294320

Conflicting classifications of pathogenicity

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA3184956

rs_769638625

2 SubmittersRCV002537390 RCV004559691

NM_198253.3(TERT):c.76A>G (p.Thr26Ala)

SNV
Germline

Chr5:1294914

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA359059504

rs_1579599309

4 SubmittersRCV002537121 RCV003141795 RCV004559669

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

SNV
Germline

Chr5:1271209

Conflicting classifications of pathogenicity

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA3184527

rs_373488315

2 SubmittersRCV002539945 RCV005492891

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_198253.3(TERT):c.3267C>T (p.Tyr1089=)

SNV
Germline

Chr5:1254396

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3184240

rs_759883263

6 SubmittersRCV001816988 RCV002256570 RCV002539055 RCV004538288 RCV004569802

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

SNV
Germline

Chr5:1268642

Conflicting classifications of pathogenicity

Dyskeratosis congenita
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Conflicting Classifications

CA3184489

rs_764029536

2 SubmittersRCV002258012 RCV002538978

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

SNV
Germline

Chr5:1278740

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3184630

rs_200819224

4 SubmittersRCV001817036 RCV002539221 RCV004530847 RCV004559753

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

SNV
Germline

Chr5:1253836

Conflicting classifications of pathogenicity

not specified
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
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_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_198253.3(TERT):c.3251G>A (p.Arg1084Gln)

SNV
Germline

Chr5:1254412

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita
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

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

Criteria Provided
Conflicting Classifications

CA3184355

rs_370445231

7 SubmittersRCV002253765 RCV002551377 RCV004559843 RCV004536066 RCV005251242 RCV006279293

NM_198253.3(TERT):c.2750C>T (p.Thr917Met)

SNV
Germline

Chr5:1264497

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3184404

rs_779102560

2 SubmittersRCV002553948 RCV004726855

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
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
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

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
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

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

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

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

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

Criteria Provided
Conflicting Classifications

CA359082912

rs_1207489144

3 SubmittersRCV002554525 RCV005250132 RCV005749724

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

SNV
Germline

Chr5:1282618

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA112951997

rs_1006357203

2 SubmittersRCV002555892 RCV004559900

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

SNV
Germline

Chr5:1293448

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA112957554

rs_917650159

2 SubmittersRCV002553196 RCV004559863

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

SNV
Germline

Chr5:1293547

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA112914808

rs_1030156757

4 SubmittersRCV002298867 RCV002555899 RCV004559901

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

SNV
Germline

Chr5:1294066

Conflicting classifications of pathogenicity

Dyskeratosis congenita
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Conflicting Classifications

CA359056640

rs_1751200603

2 SubmittersRCV004559882 RCV002553844

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

SNV
Germline

Chr5:1294110

Conflicting classifications of pathogenicity

Dyskeratosis congenita
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Conflicting Classifications

CA3184917

rs_775613951

2 SubmittersRCV004559875 RCV002553335

NM_198253.3(TERT):c.592G>A (p.Gly198Arg)

SNV
Germline

Chr5:1294294

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA3184950

rs_758442518

2 SubmittersRCV002554516 RCV004559894

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

SNV
Germline

Chr5:1272184

Likely pathogenic

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Single Submitter

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
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Conflicting Classifications

CA359073144

rs_1748613384

3 SubmittersRCV001093474 RCV002554874

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

SNV
Germline

Chr5:1293485

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA443240716

rs_1751126189

3 SubmittersRCV001154651 RCV001154650 RCV001154652 RCV002557323 RCV004559907

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

SNV
Germline

Chr5:1294190

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

Criteria Provided
Conflicting Classifications

CA443239908

rs_1033402019

2 SubmittersRCV001155587 RCV001155589 RCV001155588 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_198253.3(TERT):c.230T>C (p.Leu77Pro)

SNV
Germline

Chr5:1294656

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA359058709

rs_1751271544

4 SubmittersRCV001172441 RCV001819874 RCV002509620 RCV003104009

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

SNV
Germline

Chr5:1264435

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA359071530

rs_1422814635

5 SubmittersRCV001172444 RCV001819875 RCV002559651 RCV002509621 RCV004559909

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

SNV
Germline

Chr5:1280217

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA359081468

rs_1194223999

7 SubmittersRCV001172450 RCV001819876 RCV002558734 RCV002509622 RCV004734036 RCV004559910

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
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA359073151

rs_1748613571

4 SubmittersRCV001819918 RCV003150824 RCV003150823 RCV003770256

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

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
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

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

Criteria Provided
Conflicting Classifications

CA3184749

rs_769540249

3 SubmittersRCV003324819 RCV003103930 RCV005278753

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

SNV
Germline

Chr5:1293594

Conflicting classifications of pathogenicity

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA359086349

rs_1164823749

2 SubmittersRCV002561184 RCV004559926

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

SNV
Germline

Chr5:1282625

Likely pathogenic

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Single Submitter

CA359083627

rs_1750106866

1 SubmittersRCV002563064

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

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

Criteria Provided
Conflicting Classifications

CA3184747

rs_747940807

4 SubmittersRCV002563111 RCV003473789 RCV005749756

NM_198253.3(TERT):c.1450G>A (p.Glu484Lys)

SNV
Germline

Chr5:1293436

Conflicting classifications of pathogenicity

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA359085576

rs_1561213355

2 SubmittersRCV003103935 RCV005749757

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_198253.3(TERT):c.1334C>G (p.Pro445Arg)

SNV
Germline

Chr5:1293552

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3184916

rs_746036694

3 SubmittersRCV002256723 RCV002568661

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

SNV
Germline

Chr5:1271168

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
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.1565G>A (p.Arg522Lys)

SNV
Germline

Chr5:1293321

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA359085026

rs_1751108994

4 SubmittersRCV001267799 RCV002570420 RCV005749766

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

4 SubmittersRCV001268086 RCV002541635 RCV004557498

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

SNV
Germline

Chr5:1264483

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita
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

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA359056059

rs_1438162956

2 SubmittersRCV002543194 RCV004557524

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
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
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.1192G>C (p.Gly398Arg)

SNV
Germline

Chr5:1293694

Conflicting classifications of pathogenicity

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA359086593

rs_1413910260

2 SubmittersRCV002543769 RCV005749789

NM_198253.3(TERT):c.905A>G (p.Gln302Arg)

SNV
Germline

Chr5:1293981

Conflicting classifications of pathogenicity

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA359056213

rs_1751188438

2 SubmittersRCV002543755 RCV004557534

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_198253.3(TERT):c.2286+1G>A

SNV
Germline

Chr5:1278640

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA359078622

rs_1749780301

3 SubmittersRCV002675447 RCV005429379 RCV004558797

NM_198253.3(TERT):c.1834G>A (p.Ala612Thr)

SNV
Germline

Chr5:1280274

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA359081844

rs_1749932051

2 SubmittersRCV002546893 RCV004557547

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

SNV
Germline

Chr5:1293522

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3184852

rs_781329984

3 SubmittersRCV002546931 RCV002329318 RCV004822364

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

SNV
Germline

Chr5:1280256

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA112950361

rs_995777798

2 SubmittersRCV002550144 RCV004557574

NM_198253.3(TERT):c.1570C>G (p.Pro524Ala)

SNV
Germline

Chr5:1293316

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA112957459

rs_898648592

4 SubmittersRCV002550050 RCV004728674 RCV005503125 RCV004770113

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_198253.3(TERT):c.3026C>T (p.Ala1009Val)

SNV
Germline

Chr5:1258604

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA359068797

rs_866575708

2 SubmittersRCV001376142 RCV002550227

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

Criteria Provided
Conflicting Classifications

CA112915107

rs_1033402019

3 SubmittersRCV001820107 RCV002554015 RCV004557610

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

SNV
Germline

Chr5:1278801

Conflicting classifications of pathogenicity

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
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

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

Criteria Provided
Conflicting Classifications

CA112915116

rs_989271195

3 SubmittersRCV001820127 RCV002555537 RCV004557643

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

SNV
Germline

Chr5:1294430

Conflicting classifications of pathogenicity

Dyskeratosis congenita
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Conflicting Classifications

CA3184975

rs_757121533

3 SubmittersRCV002256771 RCV002555511

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
Dyskeratosis congenita
Condition: not provided

Criteria Provided
Conflicting Classifications

CA443240690

rs_1396093690

3 SubmittersRCV002561995 RCV004557704 RCV005369891

NM_198253.3(TERT):c.2851C>A (p.Arg951=)

SNV
Germline

Chr5:1260593

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3184354

rs_370445231

3 SubmittersRCV002562650 RCV004540419 RCV006287459

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_198253.3(TERT):c.171C>T (p.Cys57=)

SNV
Germline

Chr5:1294819

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA443005676

rs_1189644919

2 SubmittersRCV002563326 RCV006287471

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

SNV
Germline

Chr5:1272255

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA359076428

rs_1309399887

5 SubmittersRCV001723468 RCV003771871 RCV004690124 RCV005493065

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

SNV
Germline

Chr5:1278812

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3184647

rs_146768484

2 SubmittersRCV003237483 RCV002540730

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

SNV
Germline

Chr5:1294557

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA359058282

rs_1751262771

4 SubmittersRCV001806957 RCV002509702 RCV002542371 RCV005749859

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

SNV
Germline

Chr5:1260612

Conflicting classifications of pathogenicity

not specified
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Conflicting Classifications

CA3184364

rs_199765802

2 SubmittersRCV001817430 RCV002542532

NM_198253.3(TERT):c.2318T>C (p.Met773Thr)

SNV
Germline

Chr5:1272249

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA359076408

rs_2126617890

3 SubmittersRCV001819414 RCV005863489 RCV006557791

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

SNV
Germline

Chr5:1255286

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA359067985

rs_2126562296

2 SubmittersRCV001817788 RCV003772338

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

NM_198253.3(TERT):c.624G>T (p.Arg208Ser)

SNV
Germline

Chr5:1294262

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA359057153

rs_773987859

3 SubmittersRCV002569272 RCV004734372 RCV005749952

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

SNV
Germline

Chr5:1264501

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA359071924

rs_1189683846

3 SubmittersRCV002548055 RCV004558679 RCV005245524

NM_198253.3(TERT):c.1181T>A (p.Leu394Gln)

SNV
Germline

Chr5:1293705

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA359086624

rs_1357160289

3 SubmittersRCV002571298 RCV004558771 RCV005868509

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_198253.3(TERT):c.77C>T (p.Thr26Met)

SNV
Germline

Chr5:1294913

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA3185025

rs_760727529

2 SubmittersRCV002550983 RCV004558685

NM_198253.3(TERT):c.598G>T (p.Glu200Ter)

SNV
Germline

Chr5:1294288

Pathogenic

Dyskeratosis congenita
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA359057233

rs_1322987070

2 SubmittersRCV006302443 RCV002555249

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_198253.3(TERT):c.2908A>C (p.Met970Leu)

SNV
Germline

Chr5:1260536

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3184347

rs_762647113

3 SubmittersRCV002560557 RCV004558742 RCV005635326

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

SNV
Germline

Chr5:1272214

Conflicting classifications of pathogenicity

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

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_198253.3(TERT):c.3118G>A (p.Ala1040Thr)

SNV
Germline

Chr5:1255326

Likely pathogenic

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Telomere syndrome

Criteria Provided
Single Submitter

CA359068120

rs_770144114

2 SubmittersRCV002579662 RCV003325413

NM_198253.3(TERT):c.1612G>T (p.Glu538Ter)

SNV
Germline

Chr5:1282586

Pathogenic

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Single Submitter

CA359083465

rs_2126649912

1 SubmittersRCV002562752

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_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

Dyskeratosis congenita
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Conflicting Classifications

CA3184365

rs_199765802

2 SubmittersRCV002256898 RCV002551298

NM_198253.3(TERT):c.3033-13G>A

SNV
Germline

Chr5:1255424

Conflicting classifications of pathogenicity

Dyskeratosis congenita
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

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

Criteria Provided
Conflicting Classifications

CA2573138605

rs_2126573743

2 SubmittersRCV002562254 RCV005032148

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

SNV
Germline

Chr5:1278798

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA359079789

rs_1749799292

3 SubmittersRCV002331859 RCV003101364 RCV005648212

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_198253.3(TERT):c.3373T>G (p.Ser1125Ala)

SNV
Germline

Chr5:1253754

Conflicting classifications of pathogenicity

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

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_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_198253.3(TERT):c.2346G>T (p.Glu782Asp)

SNV
Germline

Chr5:1272221

Conflicting classifications of pathogenicity

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
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

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA359074195

rs_1748783254

2 SubmittersRCV003101979 RCV004559583

NM_198253.3(TERT):c.1784G>A (p.Arg595Lys)

SNV
Germline

Chr5:1280324

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA359082100

rs_1388629976

2 SubmittersRCV003073237 RCV006307296

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

SNV
Germline

Chr5:1279308

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA359080037

rs_2478274631

2 SubmittersRCV003080428 RCV004560040

NM_198253.3(TERT):c.3032+1G>C

SNV
Germline

Chr5:1258597

Likely pathogenic

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Single Submitter

CA359068778

rs_2478106403

1 SubmittersRCV002622217

NM_198253.3(TERT):c.2074A>G (p.Thr692Ala)

SNV
Germline

Chr5:1279347

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA359080218

rs_2478275359

2 SubmittersRCV002680872 RCV005752075

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

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Single Submitter

CA359076171

rs_1749089374

1 SubmittersRCV002834223

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

SNV
Germline

Chr5:1272244

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA359076394

rs_2478210028

2 SubmittersRCV002918325 RCV005245533

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

SNV
Germline

Chr5:1279290

Likely pathogenic

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Single Submitter

CA359079907

rs_1749840545

1 SubmittersRCV002929149

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_198253.3(TERT):c.2092C>T (p.Arg698Trp)

SNV
Germline

Chr5:1279329

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA112949458

rs_866282352

5 SubmittersRCV003151670 RCV003778908 RCV004593221

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_198253.3(TERT):c.1246C>T (p.Arg416Ter)

SNV
Germline

Chr5:1293640

Pathogenic

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Single Submitter

CA359086444

rs_2478412591

1 SubmittersRCV003782297

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_198253.3(TERT):c.389C>T (p.Ala130Val)

SNV
Germline

Chr5:1294497

Likely pathogenic

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Single Submitter

CA359058127

rs_1751253944

1 SubmittersRCV003786505

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

SNV
Germline

Chr5:1293493

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA359085812

rs_758110675

2 SubmittersRCV003792227 RCV006307455

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

SNV
Germline

Chr5:1293342

Conflicting classifications of pathogenicity

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA359085097

rs_2478407891

2 SubmittersRCV003807818 RCV004823230

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_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_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_198253.3(TERT):c.2130+2T>G

SNV
Germline

Chr5:1279289

Likely pathogenic

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Single Submitter

CA359079897

rs_1160960250

1 SubmittersRCV003803273

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

SNV
Germline

Chr5:1282625

Likely pathogenic

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Single Submitter

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_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_198253.3(TERT):c.2380C>T (p.Gln794Ter)

SNV
Germline

Chr5:1272187

Pathogenic

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Single Submitter

CA359076186

rs_2478209197

1 SubmittersRCV003809225

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_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_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_198253.3(TERT):c.2669G>A (p.Gly890Asp)

SNV
Germline

Chr5:1264578

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

3 SubmittersRCV005212934 RCV005230874 RCV005291224

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_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_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_198253.3(TERT):c.1708A>T (p.Lys570Ter)

SNV
Germline

Chr5:1282490

Pathogenic

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Single Submitter

1 SubmittersRCV006590980

NM_198253.3(TERT):c.2921T>G (p.Leu974Arg)

SNV
Germline

Chr5:1260523

Likely pathogenic

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Single Submitter

1 SubmittersRCV006598333

NM_198253.3(TERT):c.3158-1G>C

SNV
Germline

Chr5:1254506

Likely pathogenic

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Single Submitter

1 SubmittersRCV006591243