Submissions for variant NM_014384.3(ACAD8):c.210+6C>T

gnomAD frequency: 0.01003  dbSNP: rs148089913

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000545184	SCV000645957	benign	Deficiency of isobutyryl-CoA dehydrogenase	2024-01-15	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000597740	SCV000700453	benign	not specified	2017-02-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000545184	SCV001259706	benign	Deficiency of isobutyryl-CoA dehydrogenase	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.
Fulgent Genetics, Fulgent Genetics	RCV000545184	SCV002806316	likely benign	Deficiency of isobutyryl-CoA dehydrogenase	2021-10-08	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004708934	SCV005234019	benign	not provided		criteria provided, single submitter	not provided