ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.49-16C>T

dbSNP: rs1057517618
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000581277 SCV000689548 likely benign Hereditary cancer-predisposing syndrome 2015-11-16 criteria provided, single submitter clinical testing
GeneDx RCV000613070 SCV000717536 likely benign not specified 2017-03-24 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002061799 SCV002346484 likely benign Hereditary diffuse gastric adenocarcinoma 2024-01-11 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV002061799 SCV005405576 likely benign Hereditary diffuse gastric adenocarcinoma 2024-09-11 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing.

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