ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.6727_6728CA[1] (p.His2243fs) (rs752122764)

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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 RCV000992953 SCV001145570 likely pathogenic not provided 2018-11-01 criteria provided, single submitter clinical testing The variant results in a shift of the reading frame, and is therefore predicted to significantly disrupt the protein structure. The best available variant frequency is uninformative because there are too few occurrences in population data.

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