ClinVar Miner

Submissions for variant NM_001039141.3(TRIOBP):c.5588C>T (p.Ala1863Val) (rs140528529)

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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,Partners HealthCare Personalized Medicine RCV000154655 SCV000204331 likely benign not specified 2015-05-19 criteria provided, single submitter clinical testing p.Ala1863Val in exon 15 of TRIOBP: This variant is not expected to have clinical significance because it has been identified in 0.33% (220/66206) of European ch romosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute. org; dbSNP rs140528529).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000154655 SCV000855390 likely benign not specified 2017-07-03 criteria provided, single submitter clinical testing
Invitae RCV000969975 SCV001117527 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000969975 SCV001146241 likely benign not provided 2019-07-02 criteria provided, single submitter clinical testing

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