ClinVar Miner

Submissions for variant NM_006940.6(SOX5):c.956del (p.Ile319fs)

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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 RCV003140594 SCV003807510 likely pathogenic Lamb-Shaffer syndrome 2022-07-05 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1 very strong, PM2 moderated

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