ClinVar Miner

Submissions for variant NM_001005498.4(RHBDF2):c.151-39G>T

gnomAD frequency: 0.43017  dbSNP: rs3809694
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000298609 SCV000406885 benign Palmoplantar keratoderma-esophageal carcinoma syndrome 2018-01-13 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 RCV001594955 SCV001828348 benign not provided 2021-06-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000298609 SCV002033593 benign Palmoplantar keratoderma-esophageal carcinoma syndrome 2021-11-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001594955 SCV002407829 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV000298609 SCV004015342 benign Palmoplantar keratoderma-esophageal carcinoma syndrome 2023-07-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001594955 SCV005252437 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529450 SCV001742930 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001529450 SCV001951709 benign not specified no assertion criteria provided clinical testing

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