ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.254-2_254-1del

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004721074 SCV005327241 likely pathogenic not provided 2024-03-14 criteria provided, single submitter clinical testing Canonical splice site variant predicted to result in a null allele in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 36988593, 30287823, 33309985, 36243179, 32980694)
Laboratory for Genotyping Development, RIKEN RCV003164663 SCV002758383 pathogenic Gastric cancer 2021-07-01 no assertion criteria provided research

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