ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.5257_5262del (p.Ile1753_Ser1754del)

dbSNP: rs1554820140
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670952 SCV000795878 uncertain significance Usher syndrome type 1F 2017-11-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002060822 SCV002339458 likely benign not provided 2021-03-02 criteria provided, single submitter clinical testing

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