ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.3857T>A (p.Val1286Glu) (rs375292203)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Human Genetics,Children's Hospital of Philadelphia RCV000477756 SCV000536897 uncertain significance Deafness, autosomal recessive 23; Usher syndrome type 1D; Usher syndrome type 1F 2016-07-19 no assertion criteria provided research

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