Submissions for variant NM_005373.3(MPL):c.1467C>T (p.Thr489=)

gnomAD frequency: 0.00009  dbSNP: rs759161511

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000321411	SCV000357782	uncertain significance	Congenital amegakaryocytic thrombocytopenia	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000376584	SCV000357783	uncertain significance	Thrombocythemia 1	2016-06-14	criteria provided, single submitter	clinical testing
Invitae	RCV000863244	SCV001003873	likely benign	Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia	2024-01-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003409452	SCV004123653	likely benign	not provided	2023-07-01	criteria provided, single submitter	clinical testing	MPL: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV004537672	SCV004734397	likely benign	MPL-related disorder	2023-04-08	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc.	RCV000321411	SCV001460041	likely benign	Congenital amegakaryocytic thrombocytopenia	2020-06-25	no assertion criteria provided	clinical testing