Submissions for variant NM_006904.7(PRKDC):c.11805C>T (p.Gly3935=)

gnomAD frequency: 0.00590  dbSNP: rs8178249

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000434056	SCV000517120	likely benign	not specified	2017-09-02	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000528197	SCV000655362	benign	Severe combined immunodeficiency due to DNA-PKcs deficiency	2024-01-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001532143	SCV001747558	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	PRKDC: BP4, BP7, BS2
Fulgent Genetics, Fulgent Genetics	RCV000528197	SCV002795502	likely benign	Severe combined immunodeficiency due to DNA-PKcs deficiency	2021-11-10	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001532143	SCV005223515	likely benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001532143	SCV001929438	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001532143	SCV001968302	likely benign	not provided		no assertion criteria provided	clinical testing