ClinVar Miner

Submissions for variant NM_001089.3(ABCA3):c.5101G>A (p.Glu1701Lys) (rs139954112)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000216001 SCV000269960 likely benign not specified 2016-01-14 criteria provided, single submitter clinical testing p.Glu1701Lys in exon 33 of ABCA3: This variant is not expected to have clinical significance because it has been identified in 0.7% (72/10220) of African chromo somes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs139954112).
Johns Hopkins Genomics, Johns Hopkins University RCV000853222 SCV000996034 likely benign Surfactant metabolism dysfunction, pulmonary, 3 2019-07-06 criteria provided, single submitter clinical testing
Invitae RCV000965316 SCV001112581 likely benign not provided 2018-07-23 criteria provided, single submitter clinical testing

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