ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.1939C>T (p.Gln647Ter)

dbSNP: rs778195664
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001090442 SCV001245993 pathogenic not provided 2017-11-01 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV003336305 SCV004044210 pathogenic Hereditary diffuse gastric adenocarcinoma 2023-06-14 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.

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