Submissions for variant NM_015450.3(POT1):c.1022A>G (p.Gln341Arg)

gnomAD frequency: 0.00098  dbSNP: rs554325914

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000549220	SCV000655112	benign	Tumor predisposition syndrome 3	2025-01-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000572211	SCV000674404	likely benign	Hereditary cancer-predisposing syndrome	2017-06-22	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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	RCV001662598	SCV001881419	benign	not provided	2018-12-04	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001821620	SCV002066341	benign	not specified	2019-04-22	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000572211	SCV002527135	benign	Hereditary cancer-predisposing syndrome	2022-01-23	criteria provided, single submitter	curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV001821620	SCV002550120	likely benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing