ClinVar Miner

Submissions for variant NM_006254.4(PRKCD):c.1554+8G>A

gnomAD frequency: 0.00429  dbSNP: rs141412493
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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 RCV000889396 SCV001033074 benign Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD 2024-01-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003920735 SCV004734759 benign PRKCD-related disorder 2019-06-25 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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