ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.321A>C (p.Pro107=)

dbSNP: rs1345969752
Minimum review status: Collection method:
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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 RCV000978631 SCV001126563 likely benign not provided 2022-10-23 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275405 SCV001460555 uncertain significance Usher syndrome type 1F 2020-01-24 no assertion criteria provided clinical testing

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