ClinVar Miner

Submissions for variant NM_001089.3(ABCA3):c.1741+33A>G

gnomAD frequency: 0.44738  dbSNP: rs170447
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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 RCV001544283 SCV001763294 benign Interstitial lung disease due to ABCA3 deficiency 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001615276 SCV001839016 benign not provided 2018-06-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001615276 SCV005290777 benign not provided criteria provided, single submitter not provided

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