ClinVar Miner

Submissions for variant NM_006254.4(PRKCD):c.1260+19G>A

gnomAD frequency: 0.10858  dbSNP: rs41275531
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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 RCV001511823 SCV001719129 benign Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001638102 SCV001849328 benign not provided 2021-05-22 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001638102 SCV005299588 benign not provided criteria provided, single submitter not provided

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