ClinVar Miner

Submissions for variant NM_006765.4(TUSC3):c.309-6T>C

gnomAD frequency: 0.31124  dbSNP: rs1035972
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081454 SCV000113385 benign not specified 2012-07-26 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV000081454 SCV000311584 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000304490 SCV000472647 benign Congenital disorder of glycosylation 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 RCV001518416 SCV001727103 benign Intellectual disability, autosomal recessive 7 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001636647 SCV001852007 benign not provided 2018-09-04 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000081454 SCV000153452 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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