ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.416G>C (p.Gly139Ala)

dbSNP: rs756272252
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672039 SCV000797098 uncertain significance Pendred syndrome 2018-01-11 criteria provided, single submitter clinical testing
Baylor Genetics RCV001004623 SCV004201956 likely pathogenic Autosomal recessive nonsyndromic hearing loss 4 2023-02-26 criteria provided, single submitter clinical testing
National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center RCV001004623 SCV000994867 affects Autosomal recessive nonsyndromic hearing loss 4 2019-08-20 no assertion criteria provided literature only in vitro experiment
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001724128 SCV001952129 pathogenic not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001724128 SCV001970797 pathogenic not provided no assertion criteria provided clinical testing

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