ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.269C>T (p.Ser90Leu) (rs370588279)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169192 SCV000220439 likely pathogenic Pendred syndrome 2014-06-20 criteria provided, single submitter literature only
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University RCV000785622 SCV000924203 likely pathogenic Deafness, autosomal recessive 4, with enlarged vestibular aqueduct criteria provided, single submitter research
National Institute of Sensory Organs,National Hospital Organization Tokyo Medical Center RCV000785622 SCV000994861 affects Deafness, autosomal recessive 4, with enlarged vestibular aqueduct 2019-08-20 no assertion criteria provided clinical testing in vitro experiment

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