Submissions for variant NM_015450.3(POT1):c.1687-5T>A

gnomAD frequency: 0.00699  dbSNP: rs35062732

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000554846	SCV000655158	benign	Tumor predisposition syndrome 3	2025-02-04	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000562242	SCV000674388	benign	Hereditary cancer-predisposing syndrome	2017-02-22	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
GeneDx	RCV001704683	SCV000731046	benign	not provided	2019-02-19	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001821628	SCV002066407	benign	not specified	2018-08-14	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV001821628	SCV002549959	benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV001821628	SCV002773920	benign	not specified	2021-07-20	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003935530	SCV004754509	benign	POT1-related disorder	2019-03-21	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).