ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.1405T>G (p.Tyr469Asp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MVZ Medizinische Genetik Mainz RCV004820343 SCV005440736 uncertain significance Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis 2024-11-28 criteria provided, single submitter clinical testing ACMG Criteria: PP3_MOD,PM2_SUP

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