ClinVar Miner

Submissions for variant NM_000546.5:c.-28_672dup

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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 RCV001796954 SCV002038503 pathogenic Li-Fraumeni syndrome 2021-12-16 criteria provided, single submitter clinical testing

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