ClinVar Miner

Submissions for variant NC_000001.10:g.(?_43800988)_(43803797_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001956411 SCV002245932 pathogenic Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia 2023-04-18 criteria provided, single submitter clinical testing This variant results in the deletion of exon 1 and part of exon 2 (c.-2532_108del) of the MPL gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MPL are known to be pathogenic (PMID: 8073287, 11133753). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with MPL-related conditions.

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