ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.2247del (p.Ser750fs)

dbSNP: rs2137708500
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002255748 SCV002526525 likely pathogenic not provided 2022-06-17 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
CeGaT Center for Human Genetics Tuebingen RCV002255748 SCV004033195 pathogenic not provided 2023-09-01 criteria provided, single submitter clinical testing PKP2: PVS1, PM2

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