ClinVar Miner

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

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Total submissions: 7
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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 RCV000888731 SCV000730595 benign not provided 2018-11-15 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25394566, 23617710, 21045265, 23280318, 30245029)
Invitae RCV000888731 SCV001032384 benign not provided 2020-11-27 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000888731 SCV001145689 likely benign not provided 2018-11-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV000169080 SCV001459862 benign Pendred syndrome 2020-01-01 no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000888731 SCV001954409 likely benign not provided no assertion criteria provided clinical testing

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