ClinVar Miner

Submissions for variant NM_001089.3(ABCA3):c.3200G>A (p.Gly1067Glu)

dbSNP: rs1567339065
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Personalized Medicine, Children's Hospital Los Angeles RCV000735346 SCV000854500 uncertain significance Pulmonary arterial hypertension; Respiratory distress; Neonatal respiratory distress criteria provided, single submitter clinical testing
Center for Personalized Medicine, Children's Hospital Los Angeles RCV003156124 SCV003845341 uncertain significance See cases 2022-12-21 criteria provided, single submitter clinical testing

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