ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.4933C>T (p.Leu1645=)

gnomAD frequency: 0.00004  dbSNP: rs61862392
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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 RCV000914199 SCV001059364 likely benign not provided 2024-03-02 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832061 SCV002087173 likely benign Usher syndrome type 1F 2021-06-30 no assertion criteria provided clinical testing

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