ClinVar Miner

Submissions for variant NM_001130004.2(ACTN1):c.1193A>C (p.Lys398Thr)

dbSNP: rs1594768463
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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 RCV000824963 SCV000966139 likely pathogenic Platelet-type bleeding disorder 15 criteria provided, single submitter clinical testing

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