ClinVar Miner

Submissions for variant NM_014251.3(SLC25A13):c.1354G>A (p.Val452Ile)

gnomAD frequency: 0.00019  dbSNP: rs143877538
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000731811 SCV000859664 uncertain significance not provided 2018-02-09 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000791115 SCV000930389 uncertain significance Citrullinemia type II 2019-04-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001084376 SCV001015693 benign Citrin deficiency 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000791115 SCV001327477 uncertain significance Citrullinemia type II 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Pars Genome Lab RCV001526420 SCV001736770 uncertain significance Citrullinemia, type II, adult-onset 2021-05-18 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000731811 SCV004224051 uncertain significance not provided 2022-09-30 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277321 SCV001464263 benign Late-onset citrullinemia 2020-01-07 no assertion criteria provided clinical testing

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