ClinVar Miner

Submissions for variant NM_001126121.2(SLC25A19):c.*2T>C

gnomAD frequency: 0.87805  dbSNP: rs1809352
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breakthrough Genomics, Breakthrough Genomics RCV000676626 SCV005251732 benign not provided criteria provided, single submitter not provided
Genome-Nilou Lab RCV001807078 SCV002055892 benign Progressive demyelinating neuropathy with bilateral striatal necrosis 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000327662 SCV002055891 benign Amish lethal microcephaly 2021-07-15 criteria provided, single submitter clinical testing
GeneDx RCV000676626 SCV001881198 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000676626 SCV000843898 benign not provided 2017-04-20 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000327662 SCV000406419 benign Amish lethal microcephaly 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.
Genetic Services Laboratory, University of Chicago RCV000118365 SCV000152765 benign not specified 2013-02-15 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000118365 SCV001975914 benign not specified no assertion criteria provided clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000676626 SCV000802418 benign not provided 2016-02-11 no assertion criteria provided clinical testing

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