ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.1377T>C (p.Ile459=)

gnomAD frequency: 0.00001  dbSNP: rs763593526
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000931328 SCV001076993 likely benign not provided 2024-02-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275400 SCV001460550 uncertain significance Usher syndrome type 1F 2020-02-13 no assertion criteria provided clinical testing

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