ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.147C>G (p.Ser49Arg) (rs756969021)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000221470 SCV000270849 likely benign not specified 2015-11-05 criteria provided, single submitter clinical testing p.Ser49Arg in exon 2 of SLC26A4: This variant is not expected to have clinical s ignificance due to a lack of conservation across species, including mammals. Of note, >10 mammals have an Arginine (Arg) at this position.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726317 SCV000343753 uncertain significance not provided 2016-08-03 criteria provided, single submitter clinical testing

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