Submissions for variant NM_198253.3(TERT):c.1138C>T (p.Pro380Ser)

gnomAD frequency: 0.00024  dbSNP: rs144756946

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV002518363	SCV000291842	benign	Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis	2024-01-29	criteria provided, single submitter	clinical testing
Mendelics	RCV000987501	SCV001136807	benign	Interstitial lung disease 2	2019-05-28	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001820778	SCV002069720	benign	not specified	2021-08-11	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV002257604	SCV002533099	benign	Dyskeratosis congenita	2020-03-26	criteria provided, single submitter	curation
Ambry Genetics	RCV002321894	SCV002605852	benign	Dyskeratosis congenita; Hereditary cancer-predisposing syndrome	2018-02-23	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: 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	RCV001701883	SCV004153874	benign	not provided	2022-03-01	criteria provided, single submitter	clinical testing	TERT: BS1, BS2
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001701883	SCV001927169	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001701883	SCV001969345	likely benign	not provided		no assertion criteria provided	clinical testing