ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.4542A>G (p.Thr1514=)

gnomAD frequency: 0.00007  dbSNP: rs369183721
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 RCV000903776 SCV001048258 likely benign not provided 2024-01-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272406 SCV001454391 likely benign Usher syndrome type 1F 2020-01-08 no assertion criteria provided clinical testing

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