ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.3031G>C (p.Glu1011Gln) (rs1801726)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000152934 SCV000202364 benign not specified 2013-08-22 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000152934 SCV000711914 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Glu1021Gln in exon 7 of CASR: This variant is not expected to have clinical si gnificance because it has been identified in 98.35% (8507/8650) of East Asian ch romosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute. org; dbSNP rs1801726).

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