ClinVar Miner

Submissions for variant NM_032122.5(DTNBP1):c.811+15C>G

gnomAD frequency: 0.00011  dbSNP: rs146113366
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001786564 SCV002028397 uncertain significance not provided 2021-04-27 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function
Labcorp Genetics (formerly Invitae), Labcorp RCV001786564 SCV002942833 likely benign not provided 2024-09-09 criteria provided, single submitter clinical testing

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