ClinVar Miner

Submissions for variant NM_001089.3(ABCA3):c.319+50G>A

gnomAD frequency: 0.83798  dbSNP: rs46725
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001544469 SCV001763523 benign Interstitial lung disease due to ABCA3 deficiency 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001694083 SCV001906592 benign not provided 2018-06-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001694083 SCV005290791 benign not provided criteria provided, single submitter not provided

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