ClinVar Miner

Submissions for variant NM_002049.4(GATA1):c.219del (p.Val74fs)

dbSNP: rs2062674491
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV001293752 SCV001480505 pathogenic Transient myeloproliferative syndrome 2020-09-01 criteria provided, single submitter clinical testing

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