ClinVar Miner

Submissions for variant NM_005373.3(MPL):c.273C>T (p.Tyr91=)

gnomAD frequency: 0.00001  dbSNP: rs759361904
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000868773 SCV001010143 likely benign Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia 2024-01-16 criteria provided, single submitter clinical testing
GeneDx RCV003442127 SCV004169180 uncertain significance not provided 2023-04-17 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Natera, Inc. RCV001272211 SCV001453970 likely benign Congenital amegakaryocytic thrombocytopenia 2020-09-16 no assertion criteria provided clinical testing

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