ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.7374del (p.Met2459fs)

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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 RCV001287914 SCV001474679 pathogenic not provided 2019-09-27 criteria provided, single submitter clinical testing The variant results in a shift of the reading frame, and is therefore predicted to result in the loss of a functional protein. Found in at least one patient with expected phenotype for this gene, and not found in general population data.

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