ClinVar Miner

Submissions for variant NM_207122.2(EXT2):c.168G>A (p.Trp56Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV003225826 SCV003807602 likely pathogenic Exostoses, multiple, type 2 2022-09-30 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1 very strong, PM2 moderated

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