ClinVar Miner

Submissions for variant NM_001089.3(ABCA3):c.990+14C>T

gnomAD frequency: 0.00913  dbSNP: rs185179294
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000216822 SCV000268778 benign not specified 2013-02-21 criteria provided, single submitter clinical testing 990+14C>T in intron 9 of ABCA3: This variant is not expected to have clinical si gnificance because it is not located within the conserved splice consensus seque nce. It has been identified in 12.9% (17/132) of Mexican chromosomes from a broa d population by the 1000 Genomes Project (http://www.ncbi.nlm.nih.gov/projects/S NP; dbSNP rs185179294).
Illumina Laboratory Services, Illumina RCV000403730 SCV000396144 benign Interstitial lung disease due to ABCA3 deficiency 2018-01-12 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.
GeneDx RCV001682924 SCV001901842 benign not provided 2018-07-21 criteria provided, single submitter clinical testing
Invitae RCV001682924 SCV002401067 benign not provided 2024-01-31 criteria provided, single submitter clinical testing

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