ClinVar Miner

Submissions for variant NM_006940.6(SOX5):c.1782G>A (p.Trp594Ter)

dbSNP: rs1591833842
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002307637 SCV002601481 pathogenic not provided 2022-10-20 criteria provided, single submitter clinical testing Nonsense 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); This variant is associated with the following publications: (PMID: 31578471)
Institute for Human Genetics, University Hospital Essen RCV000857301 SCV000999896 pathogenic Lamb-Shaffer syndrome 2019-08-05 no assertion criteria provided clinical testing

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