ClinVar Miner

Submissions for variant NM_016038.4(SBDS):c.478C>T (p.Gln160Ter)

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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 RCV003142536 SCV003807415 likely pathogenic Shwachman-Diamond syndrome 1 2022-04-07 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1 very strong, PM2 moderated

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