ClinVar Miner

Submissions for variant NM_000421.5(KRT10):c.1374-1G>A

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Total submissions: 2
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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 RCV003140427 SCV003807119 likely pathogenic Congenital reticular ichthyosiform erythroderma 2022-04-20 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1 strong, PS4 supporting, PM2 moderated, PM6 moderated
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV003988887 SCV004805303 likely pathogenic Epidermolytic hyperkeratosis 2A, autosomal dominant 2024-03-25 criteria provided, single submitter research

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