ClinVar Miner

Submissions for variant NM_001126121.2(SLC25A19):c.819G>A (p.Leu273=)

gnomAD frequency: 0.52943  dbSNP: rs4789164
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000282825 SCV000406421 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.
Athena Diagnostics Inc RCV000676627 SCV000843901 benign not provided 2017-04-20 criteria provided, single submitter clinical testing
Invitae RCV000676627 SCV001729193 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000676627 SCV001890849 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000282825 SCV002055893 benign Amish lethal microcephaly 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807080 SCV002055894 benign Progressive demyelinating neuropathy with bilateral striatal necrosis 2021-07-15 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000118371 SCV000152771 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Mayo Clinic Laboratories, Mayo Clinic RCV000676627 SCV000802419 benign not provided 2016-02-19 no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000118371 SCV001966176 benign not specified no assertion criteria provided clinical testing

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