ClinVar Miner

Submissions for variant NM_006254.4(PRKCD):c.912A>G (p.Ser304=)

gnomAD frequency: 0.00040  dbSNP: rs529176751
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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 RCV000899447 SCV001043716 benign Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD 2025-02-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004758751 SCV005354040 likely benign PRKCD-related disorder 2024-08-06 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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