ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.898A>C (p.Ile300Leu) (rs111033304)

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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 RCV000036511 SCV000060166 benign not specified 2011-06-21 criteria provided, single submitter clinical testing Ile300Leu in exon 7 of SLC26A4: This variant is predicted to be benign because i t has been identified in 1.3% (140/10384) of African chromosomes including 3 hom ozygotes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.o rg; dbSNP rs111033304).
Counsyl RCV000169080 SCV000220252 likely benign Pendred syndrome 2014-04-26 criteria provided, single submitter literature only
GeneDx RCV000036511 SCV000730595 likely benign not specified 2017-07-31 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000888731 SCV001032384 benign not provided 2019-03-04 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000888731 SCV001145689 likely benign not provided 2018-11-14 criteria provided, single submitter clinical testing

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