ClinVar Miner

Submissions for variant NM_005726.6(TSFM):c.796C>A (p.Leu266Ile)

gnomAD frequency: 0.00702  dbSNP: rs62000432
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224319 SCV000281070 likely benign not provided 2015-04-13 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Illumina Laboratory Services, Illumina RCV000289720 SCV000380532 benign Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 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.
Invitae RCV000224319 SCV001015899 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000224319 SCV001940424 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Natera, Inc. RCV000289720 SCV001463682 benign Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 2019-11-11 no assertion criteria provided clinical testing

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