ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.4575T>C (p.His1525=)

gnomAD frequency: 0.00004  dbSNP: rs746377416
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 RCV000928314 SCV001073924 likely benign not provided 2024-05-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274786 SCV001459211 likely benign Usher syndrome type 1F 2020-09-16 no assertion criteria provided clinical testing

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