ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.5257_5271del (p.Ile1753_Ser1757del)

dbSNP: rs777129729
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001064223 SCV001229109 likely benign not provided 2024-01-02 criteria provided, single submitter clinical testing
Natera, Inc. RCV001833627 SCV002087764 uncertain significance Usher syndrome type 1F 2020-07-30 no assertion criteria provided clinical testing

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