ClinVar Miner

Submissions for variant NM_001972.4(ELANE):c.458C>A (p.Ala153Asp)

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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 RCV003140415 SCV003807094 likely pathogenic Cyclical neutropenia 2022-05-27 criteria provided, single submitter clinical testing ACMG classification criteria: PS4 moderated, PM2 moderated, PP3 supporting, PP4

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