ClinVar Miner

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

gnomAD frequency: 0.00098  dbSNP: rs554325914
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000549220 SCV000655112 benign Tumor predisposition syndrome 3 2024-01-13 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: 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

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