ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.2235+2T>C

dbSNP: rs1554362815
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673114 SCV000798282 likely pathogenic Pendred syndrome 2018-03-05 criteria provided, single submitter clinical testing
Laboratory of Human Genetics, Institute of Biosciences - University of Sao Paulo RCV001580205 SCV001809839 likely pathogenic Autosomal recessive nonsyndromic hearing loss 4 criteria provided, single submitter research

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