ClinVar Miner

Submissions for variant NM_001151.4(SLC25A4):c.567T>C (p.Ala189=) (rs149101873)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000200162 SCV000252281 benign not specified 2012-03-06 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.
Illumina Clinical Services Laboratory,Illumina RCV000378174 SCV000448750 benign Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 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.
Invitae RCV000677079 SCV001015783 benign not provided 2020-11-20 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001285525 SCV001471975 benign none provided 2020-04-13 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000200162 SCV001475531 benign not specified 2020-01-08 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000677079 SCV000802916 likely benign not provided 2017-10-12 no assertion criteria provided clinical testing

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