Submissions for variant NM_015450.3(POT1):c.1228G>C (p.Asp410His)

gnomAD frequency: 0.00022  dbSNP: rs79314063

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000502135	SCV000596549	benign	not specified	2019-01-02	criteria provided, single submitter	clinical testing
Invitae	RCV000527945	SCV000655133	benign	Tumor predisposition syndrome 3	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000502135	SCV000727283	likely benign	not specified	2018-02-01	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.
Ambry Genetics	RCV001010443	SCV001170643	likely benign	Hereditary cancer-predisposing syndrome	2018-12-27	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
Sema4, Sema4	RCV001010443	SCV002527145	likely benign	Hereditary cancer-predisposing syndrome	2021-11-09	criteria provided, single submitter	curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000502135	SCV002550076	uncertain significance	not specified	2024-02-06	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000502135	SCV002773917	benign	not specified	2021-06-25	criteria provided, single submitter	clinical testing