ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.6284C>T (p.Ala2095Val)

gnomAD frequency: 0.00001  dbSNP: rs8178147
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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 RCV001224592 SCV001396800 uncertain significance Severe combined immunodeficiency due to DNA-PKcs deficiency 2021-08-13 criteria provided, single submitter clinical testing
Baylor Genetics RCV001224592 SCV001528653 uncertain significance Severe combined immunodeficiency due to DNA-PKcs deficiency 2018-06-22 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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