Submissions for variant NM_015450.3(POT1):c.1884A>C (p.Thr628=)

gnomAD frequency: 0.03412  dbSNP: rs17147565

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000560889	SCV000655170	benign	Tumor predisposition syndrome 3	2024-02-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000568813	SCV000664987	benign	Hereditary cancer-predisposing syndrome	2016-12-19	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.
GeneDx	RCV000609255	SCV000729772	benign	not specified	2017-12-31	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	RCV000609255	SCV002046918	benign	not specified	2021-04-29	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000609255	SCV002550405	benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing