ClinVar Miner

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

dbSNP: rs1554360707
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Total submissions: 3
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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 2021-08-03 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

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