ClinVar Miner

Submissions for variant NM_005373.3(MPL):c.12G>A (p.Trp4Ter)

dbSNP: rs1647004673
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology RCV001837551 SCV002012365 uncertain significance Congenital amegakaryocytic thrombocytopenia 2021-08-16 no assertion criteria provided clinical testing We have found subject diagnosed under congenital amegakaryocytic thrombocytopenia (CAMT). However, family members (Father, Sibling-Female) having the same variants were not found affected.

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