ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.583C>T (p.Gln195Ter)

dbSNP: rs1960737851
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268290 SCV001447107 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV002467455 SCV002762807 pathogenic Familial cancer of breast 2022-12-09 criteria provided, single submitter research PVS1, PS4_STR, PM2_SUP

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