ClinVar Miner

Submissions for variant NM_005373.3(MPL):c.1527C>A (p.Gly509=)

dbSNP: rs1570472144
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001102306 SCV001258973 uncertain significance Congenital amegakaryocytic thrombocytopenia 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Invitae RCV003769073 SCV004571906 likely benign Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia 2023-12-02 criteria provided, single submitter clinical testing

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