ClinVar Miner

Submissions for variant NM_014251.3(SLC25A13):c.328+6A>G

gnomAD frequency: 0.67687  dbSNP: rs6957975
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000241583 SCV000312111 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000369119 SCV000470739 benign Citrullinemia type I 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000277047 SCV000470740 benign Citrullinemia type II 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.
Invitae RCV001514353 SCV001722179 benign Citrin deficiency 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001532822 SCV001748560 benign Citrullinemia, type II, adult-onset 2021-07-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001532823 SCV001748561 benign Neonatal intrahepatic cholestasis due to citrin deficiency 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001358100 SCV001887027 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001358100 SCV001553751 uncertain significance not provided no assertion criteria provided clinical testing Allele frequency is common in at least one population database (frequency: 74.812% in gnomAD_Exomes) based on the frequency threshold of 1.504% for this gene. Variant was observed in a homozygous state in population databases more than expected for disease. 3 reputable source/s reports the variant as benign, but the evidence is not available to the laboratory to perform an independent evaluation.
Natera, Inc. RCV001828145 SCV002079393 benign Citrullinemia 2019-11-18 no assertion criteria provided clinical testing

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