ClinVar Miner

Submissions for variant NM_005373.2(MPL):c.690A>G (p.Glu230=) (rs16830693)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000121542 SCV000311031 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000386380 SCV000357760 benign Thrombocythemia 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000292036 SCV000357761 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.
Invitae RCV000472894 SCV000563308 benign Congenital amegakaryocytic thrombocytopenia; essential thrombocytemia 2019-12-31 criteria provided, single submitter clinical testing
ITMI RCV000121542 SCV000085736 not provided not specified 2013-09-19 no assertion provided reference population

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