ClinVar Miner

Submissions for variant NM_015450.3(POT1):c.9+6A>G

gnomAD frequency: 0.00009  dbSNP: rs750242979
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001698100 SCV000726807 uncertain significance not provided 2022-01-10 criteria provided, single submitter clinical testing Nucleotide substitution is not conserved across species; In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV001049760 SCV001213829 likely benign Tumor predisposition syndrome 3 2024-02-01 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002268217 SCV002550298 uncertain significance not specified 2023-08-15 criteria provided, single submitter clinical testing

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