ClinVar Miner

Submissions for variant NM_001171.5(ABCC6):c.1088_1120del (p.Gln363_Arg373del) (rs387906353)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000499036 SCV000027156 pathogenic Pseudoxanthoma elasticum 2004-03-01 no assertion criteria provided literature only
PXE International RCV000499036 SCV000589172 pathogenic Pseudoxanthoma elasticum no assertion criteria provided research

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