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

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Minimum conflict level: Report conflict between different conditions
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Total submissions: 6

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Mayo Clinic Laboratories, Mayo Clinic	RCV004791272	SCV005411863	uncertain significance	not provided	2024-05-24	criteria provided, single submitter	clinical testing	BS1, BS2, BP4, PM1_supporting
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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000863056	SCV001003650	benign	Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia	2025-01-23	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000121547	SCV000595819	benign	not specified	2019-04-26	criteria provided, single submitter	clinical testing
Counsyl	RCV005430165	SCV000790118	benign	Congenital amegakaryocytic thrombocytopenia 1	2017-03-16	no assertion criteria provided	clinical testing	This submission and the accompanying classification are no longer maintained by the submitter. For more information on current observations and classification, please contact variantquestions@myriad.com.
ITMI	RCV000121547	SCV000085741	not provided	not specified	2013-09-19	no assertion provided	reference population

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