Submissions for variant NM_198253.3(TERT):c.2775C>T (p.His925=)

gnomAD frequency: 0.00035  dbSNP: rs34528119

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002518378	SCV000291864	benign	Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis	2025-02-03	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000246715	SCV000316917	likely benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000850160	SCV000452372	likely benign	Dyskeratosis congenita, autosomal dominant 2	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV000337468	SCV000452373	likely benign	Aplastic anemia	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV000394221	SCV000452374	likely benign	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Genetic Services Laboratory, University of Chicago	RCV000246715	SCV000597444	benign	not specified	2018-11-01	criteria provided, single submitter	clinical testing
Johns Hopkins Genomics, Johns Hopkins University	RCV000850160	SCV000992350	likely benign	Dyskeratosis congenita, autosomal dominant 2	2019-04-18	criteria provided, single submitter	clinical testing
GeneDx	RCV001570724	SCV001795061	likely benign	not provided	2021-05-11	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 16207588, 15814878)
Sema4, Sema4	RCV002257605	SCV002533138	benign	Dyskeratosis congenita	2020-08-21	criteria provided, single submitter	curation
Ambry Genetics	RCV002257605	SCV002751649	likely benign	Dyskeratosis congenita	2022-02-12	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen	RCV001570724	SCV004153851	likely benign	not provided	2024-05-01	criteria provided, single submitter	clinical testing	TERT: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics	RCV001570724	SCV005259065	likely benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000246715	SCV002035072	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001570724	SCV002038156	likely benign	not provided		no assertion criteria provided	clinical testing