ClinVar Miner

Submissions for variant NM_006254.4(PRKCD):c.1415+19C>T

gnomAD frequency: 0.00105  dbSNP: rs202080219
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001520801 SCV001729991 benign Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD 2024-01-18 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004716738 SCV005299621 benign not provided criteria provided, single submitter not provided

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