ClinVar Miner

Submissions for variant NM_001005337.3(PKP1):c.1199C>T (p.Pro400Leu)

dbSNP: rs483352688
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Richard Lifton Laboratory, Yale University School of Medicine RCV000087165 SCV000120027 probable-pathogenic not provided flagged submission not provided Converted during submission to Likely pathogenic.
Richard Lifton Laboratory, Yale University School of Medicine RCV000087165 SCV000155130 unknown not provided no assertion criteria provided not provided Converted during submission to Uncertain significance.

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