ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.5254_5280del (p.Pro1752_Pro1760del)

dbSNP: rs767526540
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biochemistry Laboratory of CDMU, Chengde Medical University RCV000768425 SCV000899180 likely pathogenic Usher syndrome type 1F criteria provided, single submitter case-control
Labcorp Genetics (formerly Invitae), Labcorp RCV001248285 SCV001421758 likely benign not provided 2025-01-24 criteria provided, single submitter clinical testing

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