ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.573C>T (p.Ser191=)

dbSNP: rs1185108871
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000587344 SCV000698403 likely benign not specified 2019-08-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV001024467 SCV001186490 likely benign Hereditary cancer-predisposing syndrome 2019-10-15 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV002530930 SCV003337629 likely benign Hereditary diffuse gastric adenocarcinoma 2022-10-16 criteria provided, single submitter clinical testing

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