ClinVar Miner

Submissions for variant NM_001171.5(ABCC6):c.2294G>A (p.Arg765Gln) (rs67561842)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PXE International RCV000023275 SCV000589001 pathogenic Pseudoxanthoma elasticum criteria provided, single submitter research
CeGaT Praxis fuer Humangenetik Tuebingen RCV001090336 SCV001245827 pathogenic not provided 2017-01-01 criteria provided, single submitter clinical testing
OMIM RCV000023275 SCV000044566 pathogenic Pseudoxanthoma elasticum 2010-01-01 no assertion criteria provided literature only
OMIM RCV000023276 SCV000044567 pathogenic Generalized arterial calcification of infancy 2 2010-01-01 no assertion criteria provided literature only

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