ClinVar Miner

Submissions for variant NM_006254.4(PRKCD):c.741C>T (p.Cys247=)

gnomAD frequency: 0.00741  dbSNP: rs55709737
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000531998 SCV000654787 benign Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD 2024-01-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004717664 SCV005299103 benign not provided criteria provided, single submitter not provided

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