ClinVar Miner

Submissions for variant NM_006086.4(TUBB3):c.166+12C>T

gnomAD frequency: 0.00048  dbSNP: rs374561094
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000606763 SCV000717592 likely benign not specified 2017-03-28 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 RCV002529482 SCV002936744 benign not provided 2023-12-12 criteria provided, single submitter clinical testing

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