ClinVar Miner

Submissions for variant NM_001171.5(ABCC6):c.3871G>A (p.Ala1291Thr) (rs58694313)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000420584 SCV000515882 benign not specified 2015-03-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000962389 SCV001109467 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
PXE International RCV000499072 SCV000589081 pathogenic Pseudoxanthoma elasticum no assertion criteria provided research

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