ClinVar Miner

Submissions for variant NM_001171.5(ABCC6):c.4192C>T (p.Arg1398Ter) (rs66913554)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Laboratory, M Health: University of Minnesota RCV000499242 SCV000840434 pathogenic Pseudoxanthoma elasticum 2017-11-27 criteria provided, single submitter clinical testing
PXE International RCV000499242 SCV000589111 pathogenic Pseudoxanthoma elasticum no assertion criteria provided research

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