ClinVar Miner

Submissions for variant NM_001089.3(ABCA3):c.2898C>T (p.Thr966=) (rs374605569)

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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 RCV000609615 SCV000711273 likely benign not specified 2016-05-20 criteria provided, single submitter clinical testing p.Thr966Thr in exon 21 of ABCA3: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 2/8324 African ch romosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org; dbSNP rs374605569).
Invitae RCV000947662 SCV001093848 likely benign not provided 2018-05-31 criteria provided, single submitter clinical testing

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