ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.400C>T (p.Arg134Ter) (rs137853003)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000240654 SCV000485879 likely pathogenic Usher syndrome type 1F 2016-02-26 criteria provided, single submitter clinical testing
Centre de Biotechnologie de Sfax,Université de Sfax RCV000240654 SCV000257364 pathogenic Usher syndrome type 1F 2015-04-01 no assertion criteria provided research

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