ClinVar Miner

Submissions for variant NM_000526.5(KRT14):c.815T>A (p.Met272Lys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003989195 SCV004805731 likely pathogenic Epidermolysis bullosa simplex 1A, generalized severe 2024-03-29 criteria provided, single submitter clinical testing

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