ClinVar Miner

Submissions for variant NM_001290003.1(THPO):c.98C>T (p.Pro33Leu)

gnomAD frequency: 0.00001  dbSNP: rs1208732776
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000985234 SCV001133269 uncertain significance Thrombocythemia 1 2019-09-26 no assertion criteria provided clinical testing
OMIM RCV003324805 SCV004030509 pathogenic Amegakaryocytic thrombocytopenia, congenital, 2 2023-08-28 no assertion criteria provided literature only

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