ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.1185T>C (p.Phe395=)

gnomAD frequency: 0.00001  dbSNP: rs1427922641
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000930962 SCV001076622 likely benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276784 SCV001463332 likely benign Usher syndrome type 1F 2020-09-16 no assertion criteria provided clinical testing

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