ClinVar Miner

Submissions for variant NC_000016.10:g.68835549T>A

gnomAD frequency: 0.00746  dbSNP: rs181705992
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen CDH1 Variant Curation Expert Panel RCV003328333 SCV001437598 benign CDH1-related diffuse gastric and lobular breast cancer syndrome 2023-08-10 reviewed by expert panel curation The NM_004360.4(CDH1):c.*2050T>A variant has an allele frequency of 0.02572 (2.572%, 224/8710 alleles, 1 homozygote) in the African subpopulation of the gnomAD v2.1.1 cohort (BA1; BP2). Therefore, this variant meets criteria to be classified as benign. ACMG/AMP criteria applied, as specified by the CDH1 Variant Curation Expert Panel (Variant Interpretation Guidelines Version 3.1): BA1, BP2.
Illumina Laboratory Services, Illumina RCV000350903 SCV000483551 likely benign Hereditary diffuse gastric adenocarcinoma 2016-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004709966 SCV005253653 benign not provided criteria provided, single submitter not provided

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