ClinVar Miner

Submissions for variant NM_000253.3(MTTP):c.522T>C (p.Cys174=) (rs982424)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000322921 SCV000446708 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 RCV000117638 SCV001360909 benign not specified 2019-09-19 criteria provided, single submitter clinical testing
Invitae RCV001512214 SCV001719590 benign not provided 2020-12-08 criteria provided, single submitter clinical testing
GeneDx RCV001512214 SCV001949152 benign not provided 2018-09-21 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000117638 SCV000151870 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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