ClinVar Miner

Submissions for variant NM_005554.4(KRT6A):c.520T>A (p.Phe174Ile)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005011396 SCV005636830 likely pathogenic Pachyonychia congenita 3 2024-02-22 criteria provided, single submitter clinical testing

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