ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1802del (p.Lys601fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV002306515 SCV002602544 likely pathogenic Pendred syndrome 2022-01-17 criteria provided, single submitter clinical testing NM_000441.1(SLC26A4):c.1802delA(K601Rfs*5) is expected to be pathogenic in the context of Pendred syndrome. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in SLC26A4, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

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