ClinVar Miner

Submissions for variant NM_001130004.2(ACTN1):c.1864C>T (p.His622Tyr)

dbSNP: rs1594755688
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Hematology laboratory, Robert Debré Hospital RCV000824967 SCV000966143 likely pathogenic Platelet-type bleeding disorder 15 criteria provided, single submitter clinical testing

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