ClinVar Miner

Submissions for variant NM_015450.3(POT1):c.702+9T>G

gnomAD frequency: 0.60082  dbSNP: rs6977407
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000602865 SCV000729768 benign not specified 2017-10-11 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 RCV002066726 SCV002395040 benign Tumor predisposition syndrome 3 2024-04-18 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004712909 SCV005267107 benign not provided criteria provided, single submitter not provided

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