ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.5364_5373del (p.Pro1789fs)

dbSNP: rs753690225
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671752 SCV000796769 uncertain significance Usher syndrome type 1F 2017-12-28 criteria provided, single submitter clinical testing
AiLife Diagnostics, AiLife Diagnostics RCV002223824 SCV002502722 likely pathogenic not provided 2022-03-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002223824 SCV003295530 likely benign not provided 2024-11-07 criteria provided, single submitter clinical testing
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals RCV000225400 SCV000282629 likely pathogenic Retinal dystrophy no assertion criteria provided clinical testing

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