ClinVar Miner

Submissions for variant NM_002834.5(PTPN11):c.991C>T (p.Gln331Ter)

dbSNP: rs2135901920
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV003128275 SCV002060454 likely pathogenic Metachondromatosis 2020-02-01 criteria provided, single submitter clinical testing

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