ClinVar Miner

Submissions for variant NM_001089.3(ABCA3):c.4116T>C (p.Ser1372=)

gnomAD frequency: 0.87571  dbSNP: rs149532
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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 RCV000150112 SCV000196936 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Ser1372Ser in exon 27 of ABCA3: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 22.0% (968/4396) o f African American chromosomes from a broad population by the NHLBI Exome Sequen cing Project (http://evs.gs.washington.edu/EVS; dbSNP rs149532).
Genome-Nilou Lab RCV001544281 SCV001763292 benign Interstitial lung disease due to ABCA3 deficiency 2021-07-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002055948 SCV002409474 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002055948 SCV005290763 benign not provided criteria provided, single submitter not provided

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