ClinVar Miner

Submissions for variant NM_015450.3(POT1):c.1164-13C>T

gnomAD frequency: 0.39789  dbSNP: rs3815221
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000614864 SCV000729770 benign not specified 2017-10-14 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002064375 SCV002322599 benign Tumor predisposition syndrome 3 2025-02-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004712911 SCV005267100 benign not provided criteria provided, single submitter not provided

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