ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.7080T>C (p.Phe2360=)

gnomAD frequency: 0.00001  dbSNP: rs1463023336
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001335494 SCV001528654 uncertain significance Severe combined immunodeficiency due to DNA-PKcs deficiency 2018-02-09 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV001335494 SCV002363075 likely benign Severe combined immunodeficiency due to DNA-PKcs deficiency 2022-11-17 criteria provided, single submitter clinical testing

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