ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.3877C>A (p.Arg1293=)

gnomAD frequency: 0.00064  dbSNP: rs142034111
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
GeneDx RCV000916890 SCV000524232 likely benign not provided 2021-03-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000916890 SCV001062146 benign not provided 2025-01-20 criteria provided, single submitter clinical testing

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