ClinVar Miner

Submissions for variant NM_005373.3(MPL):c.793C>T (p.Leu265Phe)

gnomAD frequency: 0.00053  dbSNP: rs117656396
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000121547 SCV000595819 benign not specified 2019-04-26 criteria provided, single submitter clinical testing
Counsyl RCV000665912 SCV000790118 benign Congenital amegakaryocytic thrombocytopenia 2017-03-16 criteria provided, single submitter clinical testing
Invitae RCV000863056 SCV001003650 benign Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000665912 SCV001254943 benign Congenital amegakaryocytic thrombocytopenia 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.
ITMI RCV000121547 SCV000085741 not provided not specified 2013-09-19 no assertion provided reference population

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