ClinVar Miner

Submissions for variant NM_006254.4(PRKCD):c.1260+6C>T

gnomAD frequency: 0.00270  dbSNP: rs180706867
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001000594 SCV000654782 benign Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD 2024-01-29 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000594 SCV001157577 benign Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD 2018-09-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003925697 SCV004743035 likely benign PRKCD-related disorder 2019-04-08 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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