ClinVar Miner

Submissions for variant NM_000436.4(OXCT1):c.173C>T (p.Thr58Met) (rs75134564)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000530890 SCV000632623 benign Succinyl-CoA acetoacetate transferase deficiency 2020-11-11 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000676890 SCV000884276 benign not provided 2017-09-16 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000530890 SCV001314593 benign Succinyl-CoA acetoacetate transferase deficiency 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Mayo Clinic Laboratories, Mayo Clinic RCV000676890 SCV000802704 benign not provided 2017-06-14 no assertion criteria provided clinical testing
SingHealth Duke-NUS Institute of Precision Medicine RCV000530890 SCV000853179 likely benign Succinyl-CoA acetoacetate transferase deficiency 2017-06-07 no assertion criteria provided curation

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