ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.4898_4901dup (p.Glu1635fs)

gnomAD frequency: 0.00001  dbSNP: rs748611625
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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 RCV002069409 SCV002363201 likely benign not provided 2024-01-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277670 SCV001464634 uncertain significance Usher syndrome type 1F 2020-04-16 no assertion criteria provided clinical testing

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