Submissions for variant NM_198253.3(TERT):c.2139G>A (p.Val713=)

gnomAD frequency: 0.00008  dbSNP: rs775722062

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002530523	SCV000770780	benign	Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis	2024-02-01	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001816617	SCV002071681	likely benign	not specified	2019-01-22	criteria provided, single submitter	clinical testing
GeneDx	RCV002248843	SCV002520159	likely benign	not provided	2019-11-25	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
Sema4, Sema4	RCV002257903	SCV002533123	likely benign	Dyskeratosis congenita	2021-06-17	criteria provided, single submitter	curation
Ambry Genetics	RCV002257903	SCV002731102	likely benign	Dyskeratosis congenita	2022-03-01	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.
PreventionGenetics, part of Exact Sciences	RCV004544888	SCV004763853	likely benign	TERT-related disorder	2023-10-13	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).