Submissions for variant NM_015450.3(POT1):c.924A>G (p.Gln308=)

gnomAD frequency: 0.00206  dbSNP: rs34398311

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000538923	SCV000655220	benign	Tumor predisposition syndrome 3	2025-02-04	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000566783	SCV000674389	benign	Hereditary cancer-predisposing syndrome	2017-01-20	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	RCV000608970	SCV000730730	benign	not specified	2018-01-03	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.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000608970	SCV002550165	benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000608970	SCV002773918	benign	not specified	2021-06-29	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004712886	SCV005267105	benign	not provided		criteria provided, single submitter	not provided