ClinVar Miner

Submissions for variant NM_006254.4(PRKCD):c.180T>C (p.Asp60=)

gnomAD frequency: 0.12323  dbSNP: rs2230493
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000454899 SCV000540114 benign not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
Labcorp Genetics (formerly Invitae), Labcorp RCV001515643 SCV001723763 benign Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001672771 SCV001889408 benign not provided 2021-05-04 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV000454899 SCV004102473 benign not specified 2023-11-12 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 25% of patients studied by a panel of primary immunodeficiencies. Number of patients: 24. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001672771 SCV005299037 benign not provided criteria provided, single submitter not provided

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