ClinVar Miner

Submissions for variant NM_006254.4(PRKCD):c.1500C>T (p.Phe500=)

gnomAD frequency: 0.00046  dbSNP: rs149751382
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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 RCV000900993 SCV001045339 likely benign Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD 2024-11-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003950566 SCV004760670 likely benign PRKCD-related disorder 2019-12-16 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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