ClinVar Miner

Submissions for variant NM_001089.3(ABCA3):c.1814G>A (p.Arg605Gln)

gnomAD frequency: 0.00004  dbSNP: rs760006956
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics, Johns Hopkins University RCV001269408 SCV001449484 likely benign Interstitial lung disease due to ABCA3 deficiency 2020-11-13 criteria provided, single submitter clinical testing
GeneDx RCV005054357 SCV005688123 uncertain significance not provided 2024-08-02 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 33708521, 16728712)

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