ClinVar Miner

Submissions for variant NM_001005498.4(RHBDF2):c.536C>T (p.Pro179Leu)

gnomAD frequency: 0.79851  dbSNP: rs3744045
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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 RCV000329731 SCV000406874 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.
GeneDx RCV001618570 SCV001844288 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000329731 SCV002033592 benign Palmoplantar keratoderma-esophageal carcinoma syndrome 2021-11-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001618570 SCV002430685 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV000329731 SCV004017368 benign Palmoplantar keratoderma-esophageal carcinoma syndrome 2023-07-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001618570 SCV005252433 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001530107 SCV001744745 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001530107 SCV001955182 benign not specified no assertion criteria provided clinical testing

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