ClinVar Miner

Submissions for variant NM_005257.6(GATA6):c.1358C>A (p.Thr453Asn)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV004813362 SCV005438213 likely pathogenic Neutropenia, severe congenital, 8, autosomal dominant 2024-12-17 criteria provided, single submitter clinical testing

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