ClinVar Miner

Submissions for variant NM_001793.6(CDH3):c.2239C>A (p.Arg747=)

gnomAD frequency: 0.53279  dbSNP: rs17715450
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000079721 SCV000111604 benign not specified 2013-10-02 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000277967 SCV000398529 benign EEM syndrome 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV000841447 SCV000983414 benign not provided 2018-04-26 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.
Mendelics RCV000277967 SCV001140123 benign EEM syndrome 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV000841447 SCV001721758 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000277967 SCV001776187 benign EEM syndrome 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554866 SCV001776188 benign Congenital hypotrichosis with juvenile macular dystrophy 2021-07-14 criteria provided, single submitter clinical testing

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