ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.164-9_178delinsGATCC (rs1583410952)

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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 RCV000985902 SCV001134583 likely pathogenic not provided 2018-12-12 criteria provided, single submitter clinical testing The variant may result in the deletion of at least one complete exon, 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 (0/279944 chr).

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