Submissions for variant NM_004972.4(JAK2):c.1641+6T>C

gnomAD frequency: 0.00109  dbSNP: rs182123615

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Baylor Genetics	RCV001329986	SCV001521565	uncertain significance	Acquired polycythemia vera	2020-10-23	criteria provided, single submitter	clinical testing	This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Fulgent Genetics, Fulgent Genetics	RCV002499649	SCV002798213	uncertain significance	Primary familial polycythemia due to EPO receptor mutation; Acquired polycythemia vera; Budd-Chiari syndrome; Primary myelofibrosis; Acute myeloid leukemia; Thrombocythemia 3	2021-12-28	criteria provided, single submitter	clinical testing
Invitae	RCV002546365	SCV003255265	likely benign	not provided	2023-12-27	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV002546365	SCV004698836	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	JAK2: BP4, BS1
PreventionGenetics, part of Exact Sciences	RCV003945999	SCV004756874	likely benign	JAK2-related disorder	2023-08-15	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).