ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.393T>C (p.Leu131=)

gnomAD frequency: 0.00011  dbSNP: rs373096832
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001449241 SCV001652354 likely benign Severe combined immunodeficiency due to DNA-PKcs deficiency 2022-10-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002372546 SCV002624960 likely benign Inborn genetic diseases 2022-02-22 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV003970432 SCV004778755 likely benign PRKDC-related condition 2019-05-01 criteria provided, single submitter 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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