ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1579A>C (p.Thr527Pro)

dbSNP: rs1554360358
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Hearing and Balance Research, National Hospital Organization Tokyo Medical Center RCV000515726 SCV000611815 pathogenic Autosomal recessive nonsyndromic hearing loss 4 2017-07-01 criteria provided, single submitter clinical testing
Counsyl RCV000668348 SCV000792930 likely pathogenic Pendred syndrome 2017-07-24 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000515726 SCV002026943 likely pathogenic Autosomal recessive nonsyndromic hearing loss 4 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000668348 SCV002026944 likely pathogenic Pendred syndrome 2021-09-05 criteria provided, single submitter clinical testing
National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center RCV000515726 SCV000994896 affects Autosomal recessive nonsyndromic hearing loss 4 2019-08-20 no assertion criteria provided clinical testing in vitro experiment

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