ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1233C>T (p.Ala411=) (rs766572560)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000369696 SCV000341809 uncertain significance not provided 2016-06-07 criteria provided, single submitter clinical testing
Invitae RCV000369696 SCV001033849 likely benign not provided 2020-11-26 criteria provided, single submitter clinical testing
GeneDx RCV000369696 SCV001790000 likely benign not provided 2020-06-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275105 SCV001459867 likely benign Pendred syndrome 2020-06-05 no assertion criteria provided clinical testing

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