ClinVar Miner

Submissions for variant NM_018676.4(THSD1):c.1627_1630del (p.Lys543fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin RCV002285082 SCV002574810 pathogenic not specified 2022-09-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003883803 SCV004700892 likely pathogenic not provided 2024-02-01 criteria provided, single submitter clinical testing THSD1: PVS1:Strong, PM2

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