ClinVar Miner

Submissions for variant NM_005373.3(MPL):c.1653+3G>A

gnomAD frequency: 0.00367  dbSNP: rs149625825
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000242285 SCV000311026 likely benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000312504 SCV000357790 likely benign Congenital amegakaryocytic thrombocytopenia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000348994 SCV000357791 likely benign Thrombocythemia 1 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000460889 SCV000563309 benign Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia 2025-01-29 criteria provided, single submitter clinical testing

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