ClinVar Miner

Submissions for variant NM_006282.5(STK4):c.1344C>T (p.Leu448=)

gnomAD frequency: 0.00206  dbSNP: rs142232604
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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 RCV000650581 SCV000772428 benign Combined immunodeficiency due to STK4 deficiency 2023-12-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003945652 SCV004775420 likely benign STK4-related disorder 2019-08-09 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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