ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.2003T>C (p.Leu668Pro) (rs727504303)

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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 RCV000154349 SCV000204012 uncertain significance not specified 2014-07-02 criteria provided, single submitter clinical testing The Leu668Pro variant in SLC26A4 has been reported in one individual without ava ilable clinical information (MORL; andbor/slcMutations.htm), and was absent from large population studies. Computat ional prediction tools and conservation analyses suggest that the Leu668Pro vari ant may impact the protein, though this information is not predictive enough to determine pathogenicity .In summary, the clinical significance of the Leu668Pro variant is uncertain.
Natera, Inc. RCV001275119 SCV001459935 uncertain significance Pendred syndrome 2020-09-16 no assertion criteria provided clinical testing

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