ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.4708C>T (p.Arg1570Ter)

gnomAD frequency: 0.00001  dbSNP: rs770416107
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667404 SCV000791841 uncertain significance Usher syndrome type 1F 2017-05-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507158 SCV002816672 uncertain significance Autosomal recessive nonsyndromic hearing loss 23; Usher syndrome type 1D; Usher syndrome type 1F 2021-11-30 criteria provided, single submitter clinical testing

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