ClinVar Miner

Submissions for variant NM_001089.3(ABCA3):c.-9A>G (rs78286222)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000222510 SCV000268777 benign not specified 2013-02-21 criteria provided, single submitter clinical testing -9A>G in exon 4 of ABCA3: This variant is not expected to have clinical signific ance because it has been identified in 3.3% (146/4396) of African American chrom osomes from a broad population by the NHLBI Exome Sequencing Project (http://evs .gs.washington.
GeneDx RCV001577890 SCV001805369 likely benign not provided 2020-08-04 no assertion criteria provided clinical testing

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