ClinVar Miner

Submissions for variant NM_001171.5(ABCC6):c.4441G>A (p.Gly1481Ser) (rs63751279)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV001090334 SCV001245823 uncertain significance not provided 2019-08-01 criteria provided, single submitter clinical testing
PXE International RCV000499313 SCV000589031 pathogenic Pseudoxanthoma elasticum no assertion criteria provided research
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City RCV000499313 SCV001190813 uncertain significance Pseudoxanthoma elasticum 2020-02-05 no assertion criteria provided clinical testing

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