Submissions for variant NM_152416.4(NDUFAF6):c.663A>G (p.Pro221=)

gnomAD frequency: 0.00182  dbSNP: rs193102273

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000124058	SCV000167467	benign	not specified	2014-04-04	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.
Invitae	RCV000676862	SCV001041648	likely benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002492451	SCV002801719	likely benign	Mitochondrial complex 1 deficiency, nuclear type 17; Fanconi renotubular syndrome 5	2021-12-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000676862	SCV004032820	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	NDUFAF6: BP4, BP7
Mayo Clinic Laboratories, Mayo Clinic	RCV000676862	SCV000802674	likely benign	not provided	2016-02-23	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000676862	SCV001740886	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000676862	SCV001968503	likely benign	not provided		no assertion criteria provided	clinical testing