ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1050G>A (p.Leu350=) (rs727504993)

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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 RCV000156412 SCV000206130 likely benign not specified 2014-07-14 criteria provided, single submitter clinical testing Leu350Leu in exon 9 of SLC26A4: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and it is not located within the splice consensus sequence.
Illumina Clinical Services Laboratory,Illumina RCV000305265 SCV000466092 uncertain significance Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000362271 SCV000466093 uncertain significance Pendred syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000958954 SCV001105839 likely benign not provided 2019-02-06 criteria provided, single submitter clinical testing

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