ClinVar Miner

Submissions for variant NM_001089.3(ABCA3):c.4165-8G>A (rs138769732)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000605796 SCV000711272 benign not specified 2016-07-28 criteria provided, single submitter clinical testing c.4165-8G>A in intron 27 of ABCA3: This variant is not expected to have clinical significance because it has been identified in 2% (677/66082) of European chrom osomes, including 7 homozygotes by the Exome Aggregation Consortium (ExAC, http: //exac.broadinstitute.org; dbSNP rs138769732).
Invitae RCV000964222 SCV001111417 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001120023 SCV001278485 benign Surfactant metabolism dysfunction, pulmonary, 3 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Johns Hopkins Genomics, Johns Hopkins University RCV001120023 SCV001425343 benign Surfactant metabolism dysfunction, pulmonary, 3 2020-02-03 criteria provided, single submitter clinical testing
GeneDx RCV000964222 SCV001780005 likely benign not provided 2020-02-17 criteria provided, single submitter clinical testing

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