ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.2440-4T>G

dbSNP: rs1555518209
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001176473 SCV001340462 uncertain significance Hereditary cancer-predisposing syndrome 2020-01-14 criteria provided, single submitter clinical testing This variant causes a T>G nucleotide substitution at the -4 position of intron 15 of the CDH1 gene. To our knowledge, functional studies have not been performed for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV002068168 SCV002344457 likely benign Hereditary diffuse gastric adenocarcinoma 2022-02-10 criteria provided, single submitter clinical testing

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