ClinVar Miner

Submissions for variant NM_170665.4(ATP2A2):c.1013C>T (p.Ser338Phe)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Medical Genetics, College of Basic Medicine, Army Medical University RCV003239284 SCV003935198 pathogenic Keratosis follicularis criteria provided, single submitter research

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