Submissions for variant NM_001135998.3(NDUFB11):c.152C>A (p.Pro51Gln)

gnomAD frequency: 0.00042  dbSNP: rs150506634

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514918	SCV000609951	likely benign	not provided	2017-05-19	criteria provided, single submitter	clinical testing
GeneDx	RCV000514918	SCV001816470	likely benign	not provided	2019-03-18	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002524979	SCV003698951	uncertain significance	Inborn genetic diseases	2021-07-27	criteria provided, single submitter	clinical testing	The c.152C>A (p.P51Q) alteration is located in exon 1 (coding exon 1) of the NDUFB11 gene. This alteration results from a C to A substitution at nucleotide position 152, causing the proline (P) at amino acid position 51 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000514918	SCV001797585	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000514918	SCV001963659	likely benign	not provided		no assertion criteria provided	clinical testing