ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1707+2T>C

dbSNP: rs1554360707
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668081 SCV000792626 likely pathogenic Pendred syndrome 2017-07-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002493097 SCV002784092 likely pathogenic Autosomal recessive nonsyndromic hearing loss 4; Pendred syndrome 2024-06-13 criteria provided, single submitter clinical testing
Baylor Genetics RCV003472094 SCV004201902 likely pathogenic Autosomal recessive nonsyndromic hearing loss 4 2023-07-19 criteria provided, single submitter clinical testing
GeneDx RCV005054238 SCV005688122 likely pathogenic not provided 2024-07-29 criteria provided, single submitter clinical testing Canonical splice site variant expected to result in aberrant splicing, although in the absence of functional evidence the actual effect of this sequence change is unknown.; Not observed in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

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