Submissions for variant NM_015450.3(POT1):c.1211G>T (p.Gly404Val)

dbSNP: rs35536751

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000551136	SCV000655129	benign	Tumor predisposition syndrome 3	2025-02-04	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000571239	SCV000674387	benign	Hereditary cancer-predisposing syndrome	2016-12-14	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	RCV000605208	SCV000729797	benign	not specified	2017-12-28	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000605208	SCV002046809	benign	not specified	2021-04-02	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000605208	SCV002550087	benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV003736812	SCV004564138	benign	not provided	2023-11-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003736812	SCV005040988	benign	not provided	2024-11-01	criteria provided, single submitter	clinical testing	POT1: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV003736812	SCV005267099	benign	not provided		criteria provided, single submitter	not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000605208	SCV001800103	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000605208	SCV001809346	benign	not specified		no assertion criteria provided	clinical testing