ClinVar Miner

Submissions for variant NM_002225.5(IVD):c.88C>T (p.His30Tyr)

gnomAD frequency: 0.00938  dbSNP: rs73383128
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Preventiongenetics, part of Exact Sciences RCV000244121 SCV000308771 benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000244121 SCV000330969 benign not specified 2015-11-22 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000400257 SCV000390856 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV000244121 SCV000513298 benign not specified 2016-02-22 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000400257 SCV001014174 benign Isovaleryl-CoA dehydrogenase deficiency 2024-01-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV000400257 SCV002094378 likely benign Isovaleryl-CoA dehydrogenase deficiency 2017-04-26 no assertion criteria provided clinical testing

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