ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.3082del (p.His1028fs)

dbSNP: rs1057517325
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409970 SCV000487106 likely pathogenic Usher syndrome type 1F 2016-10-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002510882 SCV002821508 pathogenic not provided 2022-11-01 criteria provided, single submitter clinical testing PCDH15: PVS1, PM2, PM3

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