ClinVar Miner

Submissions for variant NM_002225.5(IVD):c.891G>A (p.Ala297=)

gnomAD frequency: 0.00069  dbSNP: rs138427412
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000080002 SCV000111893 likely benign not specified 2016-07-12 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000309822 SCV000390863 likely benign Isovaleryl-CoA dehydrogenase deficiency 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae RCV000309822 SCV000631894 benign Isovaleryl-CoA dehydrogenase deficiency 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000309822 SCV001737196 benign Isovaleryl-CoA dehydrogenase deficiency 2021-05-18 criteria provided, single submitter clinical testing
GeneDx RCV001705742 SCV001843981 likely benign not provided 2018-06-18 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000309822 SCV003800049 likely benign Isovaleryl-CoA dehydrogenase deficiency 2022-10-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001705742 SCV004136334 likely benign not provided 2022-05-01 criteria provided, single submitter clinical testing IVD: BP4, BP7
Natera, Inc. RCV000309822 SCV001456710 benign Isovaleryl-CoA dehydrogenase deficiency 2019-08-06 no assertion criteria provided clinical testing

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