ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.1774G>A (p.Ala592Thr) (rs35187787)

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Total submissions: 16
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000115846 SCV000212796 benign Hereditary cancer-predisposing syndrome 2014-12-17 criteria provided, single submitter clinical testing
Biesecker Lab/Human Development Section,National Institutes of Health RCV000034704 SCV000043245 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.
CSER_CC_NCGL; University of Washington Medical Center RCV000148453 SCV000190152 likely benign Neoplasm of the breast 2014-06-01 no assertion criteria provided research
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000034704 SCV000610263 likely benign not provided 2017-06-26 criteria provided, single submitter clinical testing
ClinGen CDH1 Variant Curation Expert Panel RCV000119222 SCV000864579 benign Hereditary diffuse gastric cancer 2018-11-21 reviewed by expert panel curation The c.1774G>A (p.Ala592Thr) variant has an allele frequency of 0.00481 (0.48%, 609/126,710 alleles) in the European (non-Finnish) subpopulation of the gnomAD cohort (BA1). In summary, this variant meets criteria to be classified as benign. ACMG/AMP criteria applied, as specified by the CDH1 Variant Curation Expert Panel: BA1.
Color RCV000115846 SCV000684379 likely benign Hereditary cancer-predisposing syndrome 2014-12-09 criteria provided, single submitter clinical testing
GeneDx RCV000120499 SCV000149755 benign not specified 2017-05-22 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.
ITMI RCV000120499 SCV000084652 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000119222 SCV000398569 likely benign Hereditary diffuse gastric cancer 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000119222 SCV000153966 benign Hereditary diffuse gastric cancer 2018-01-13 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000120499 SCV000691823 likely benign not specified no assertion criteria provided clinical testing
Mendelics RCV000119222 SCV000839090 likely benign Hereditary diffuse gastric cancer 2018-07-02 criteria provided, single submitter clinical testing
Pathway Genomics RCV000119222 SCV000189916 likely benign Hereditary diffuse gastric cancer 2014-07-24 no assertion criteria provided clinical testing
PreventionGenetics RCV000120499 SCV000806643 benign not specified 2016-11-22 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000115846 SCV000886679 benign Hereditary cancer-predisposing syndrome 2018-08-07 no assertion criteria provided clinical testing
Vantari Genetics RCV000115846 SCV000267031 benign Hereditary cancer-predisposing syndrome 2015-12-17 criteria provided, single submitter clinical testing

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