ClinVar Miner

Submissions for variant NM_152281.3(GORAB):c.62-3T>C

gnomAD frequency: 0.01889  dbSNP: rs73029138
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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 RCV000355893 SCV000351199 benign Geroderma osteodysplastica 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 RCV000860819 SCV001000979 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000355893 SCV004048828 benign Geroderma osteodysplastica 2023-04-11 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000355893 SCV004563013 benign Geroderma osteodysplastica 2023-11-06 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000860819 SCV005286531 benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001729513 SCV001977682 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000860819 SCV001979901 likely benign not provided no assertion criteria provided clinical testing

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