ClinVar Miner

Submissions for variant NM_001089.3(ABCA3):c.4545C>G (p.Tyr1515Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001283781 SCV001525220 pathogenic Surfactant metabolism dysfunction, pulmonary, 3 2019-12-22 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City RCV001283781 SCV001469162 pathogenic Surfactant metabolism dysfunction, pulmonary, 3 2020-11-12 no assertion criteria provided clinical testing

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