ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.726del (p.Phe242fs) (rs1583375132)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985917 SCV001134612 likely pathogenic not provided 2019-02-09 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. Not found in the total gnomAD dataset, and the data is high quality (0/258576 chr).

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