ClinVar Miner

Submissions for variant NM_006254.4(PRKCD):c.214G>C (p.Val72Leu)

gnomAD frequency: 0.00535  dbSNP: rs151061939
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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 RCV000538649 SCV000654785 benign Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD 2024-01-11 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000538649 SCV001473206 benign Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD 2022-02-08 criteria provided, single submitter clinical testing

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