ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.6289C>T (p.Gln2097Ter) (rs901109960)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000992949 SCV001145566 likely pathogenic not provided 2018-12-28 criteria provided, single submitter clinical testing The variant creates a premature nonsense codon, and is therefore predicted to result in the loss of a functional protein. Not found in the total gnomAD dataset, and the data is high quality (0/278082 chr).

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