ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.3522C>A (p.Gly1174=)

gnomAD frequency: 0.00001  dbSNP: rs753725514
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 RCV000976453 SCV001124355 likely benign not provided 2024-10-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV001273385 SCV001456416 uncertain significance Usher syndrome type 1F 2020-04-16 no assertion criteria provided clinical testing

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