ClinVar Miner

Submissions for variant NM_001089.3(ABCA3):c.2333A>G (p.His778Arg)

gnomAD frequency: 0.00387  dbSNP: rs34912779
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics, Johns Hopkins University RCV000787027 SCV000925937 likely benign Interstitial lung disease due to ABCA3 deficiency 2019-03-05 criteria provided, single submitter clinical testing
Invitae RCV000884883 SCV001028286 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000884883 SCV001905113 benign not provided 2020-08-13 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24871971)
Ambry Genetics RCV002458406 SCV002736362 benign Hereditary pulmonary alveolar proteinosis 2019-01-14 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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