ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.1440+7A>C

gnomAD frequency: 0.00001  dbSNP: rs540070936
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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 RCV000900635 SCV001044963 likely benign not provided 2025-01-23 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275399 SCV001460549 uncertain significance Usher syndrome type 1F 2020-04-10 no assertion criteria provided clinical testing

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