ClinVar Miner

Submissions for variant NM_001005498.4(RHBDF2):c.1396C>T (p.Arg466Trp)

gnomAD frequency: 0.00278  dbSNP: rs143503813
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000351369 SCV000406857 benign Palmoplantar keratoderma-esophageal carcinoma 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000947858 SCV001094048 benign not provided 2023-11-17 criteria provided, single submitter clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV000947858 SCV002011007 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV000351369 SCV004015339 likely benign Palmoplantar keratoderma-esophageal carcinoma syndrome 2023-07-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000947858 SCV004144313 benign not provided 2024-01-01 criteria provided, single submitter clinical testing RHBDF2: BP4, BS1, BS2
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579588 SCV001807814 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000947858 SCV001975080 likely benign not provided no assertion criteria provided clinical testing

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