ClinVar Miner

Submissions for variant NM_002049.4(GATA1):c.49_50del (p.Gln17fs)

dbSNP: rs2062673530
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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 RCV001293751 SCV001480504 pathogenic Transient myeloproliferative syndrome 2020-09-01 criteria provided, single submitter clinical testing

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