ClinVar Miner

Submissions for variant NM_001386140.1(MTTP):c.969T>C (p.Ala323=)

gnomAD frequency: 0.09781  dbSNP: rs17533489
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services,Illumina RCV000370519 SCV000446717 benign Abetalipoproteinaemia 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000117641 SCV001338509 benign not specified 2020-04-12 criteria provided, single submitter clinical testing
Invitae RCV001522095 SCV001731568 benign not provided 2020-12-04 criteria provided, single submitter clinical testing
GeneDx RCV001522095 SCV001885030 benign not provided 2018-09-22 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000117641 SCV000151873 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.
Natera, Inc. RCV000370519 SCV002082430 benign Abetalipoproteinaemia 2019-11-21 no assertion criteria provided clinical testing

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