ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.2320-4A>C (rs727503432)

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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 RCV000151911 SCV000200422 likely benign not specified 2013-09-08 criteria provided, single submitter clinical testing 2320-4A>C in Intron 20 of SLC26A4: This variant is not expected to have clinical significance because it is not located within the splice consensus sequence and computational splice tools do not predict altered splicing.
Counsyl RCV000671770 SCV000796789 uncertain significance Pendred syndrome 2017-12-29 criteria provided, single submitter clinical testing

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