ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.796G>A (p.Asp266Asn) (rs138462416)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000506867 SCV000605147 uncertain significance not specified 2016-12-29 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000506867 SCV000711199 likely benign not specified 2017-05-03 criteria provided, single submitter clinical testing p.Asp266Asn in exon 7 of SLC26A4: This variant is not expected to have clinical significance due to a lack of conservation across species, including mammals. Of note, >10 mammals have an asparagine (Asn) at this position. It has been identi fied in 7/126120 European chromosomes by the Genome Aggregation Database (gnomAD ,; dbSNP rs138462416).
National Institute of Sensory Organs,National Hospital Organization Tokyo Medical Center RCV001004630 SCV000994875 other Deafness, autosomal recessive 4, with enlarged vestibular aqueduct 2019-08-20 no assertion criteria provided literature only Benign effect in vitro experiment

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