ClinVar Miner

Submissions for variant NM_001089.3(ABCA3):c.448-14C>G

gnomAD frequency: 0.01376  dbSNP: rs62040683
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000319223 SCV000396157 benign Interstitial lung disease due to ABCA3 deficiency 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000604066 SCV000711275 benign not specified 2013-02-21 criteria provided, single submitter clinical testing 448-14C>G in intron 6 of ABCA3: This variant is not expected to have clinical si gnificance because it has been identified in 1.8% (159/8600) of European America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs62040683).
GeneDx RCV001564870 SCV001788106 likely benign not provided 2019-04-16 criteria provided, single submitter clinical testing
Invitae RCV001564870 SCV002481362 benign not provided 2024-01-31 criteria provided, single submitter clinical testing

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