ClinVar Miner

Submissions for variant NM_001987.5(ETV6):c.641C>T (p.Pro214Leu) (rs724159947)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Akiko Shimamura Lab,Fred Hutchinson Cancer Research Center RCV000149804 SCV000195555 likely pathogenic Hematologic neoplasm; Thrombocytopenia 2014-11-30 no assertion criteria provided research
OMIM RCV000157611 SCV000207420 pathogenic Thrombocytopenia 5 2015-05-01 no assertion criteria provided literature only
GeneReviews RCV001281572 SCV001468882 pathogenic Acute myeloid leukemia 2020-11-12 no assertion criteria provided literature only

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