ClinVar Miner

Submissions for variant NM_006282.5(STK4):c.934G>A (p.Val312Met)

gnomAD frequency: 0.25305  dbSNP: rs17420378
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001520771 SCV001729960 benign Combined immunodeficiency due to STK4 deficiency 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001520771 SCV002062204 benign Combined immunodeficiency due to STK4 deficiency 2021-07-15 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003399309 SCV004102247 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 43% of patients studied by a panel of primary immunodeficiencies. Number of patients: 41. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV004718867 SCV005311874 benign not provided criteria provided, single submitter not provided

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