ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.3667_3668del (p.Ile1223fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
National Institute on Deafness and Communication Disorders,National Institutes of Health RCV001328030 SCV001519363 pathogenic Deafness, autosomal recessive 23; Usher syndrome type 1D; Usher syndrome type 1F 2020-10-01 no assertion criteria provided research

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