ClinVar Miner

Submissions for variant NM_015450.3(POT1):c.1686+32A>G

gnomAD frequency: 0.00011  dbSNP: rs749702835
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sema4, Sema4 RCV002256963 SCV002527154 uncertain significance Hereditary cancer-predisposing syndrome 2021-08-27 criteria provided, single submitter curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002268633 SCV002549970 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003094191 SCV002944860 benign Tumor predisposition syndrome 3 2021-12-09 criteria provided, single submitter clinical testing

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