ClinVar Miner

Submissions for variant NM_005373.3(MPL):c.1666G>T (p.Val556Phe)

gnomAD frequency: 0.00023  dbSNP: rs150004498
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000363866 SCV000357794 likely benign 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina RCV000269486 SCV000357795 likely benign Thrombocythemia 1 2016-06-14 criteria provided, single submitter clinical testing
Counsyl RCV000363866 SCV000792764 uncertain significance Congenital amegakaryocytic thrombocytopenia 2017-07-12 criteria provided, single submitter clinical testing
Invitae RCV001850560 SCV002172982 likely benign Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia 2024-01-21 criteria provided, single submitter clinical testing

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