ClinVar Miner

Submissions for variant NM_001972.4(ELANE):c.731_732del (p.Ser244fs)

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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 RCV003140483 SCV003807228 likely pathogenic Cyclical neutropenia 2022-10-07 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1 very strong, PM2 moderated

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