Submissions for variant NM_015909.4(NBAS):c.6932G>A (p.Arg2311His)

gnomAD frequency: 0.00291  dbSNP: rs148186764

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000901540	SCV001045915	benign	not provided	2025-01-25	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002537546	SCV003649421	likely benign	Inborn genetic diseases	2021-07-28	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Breakthrough Genomics, Breakthrough Genomics	RCV000901540	SCV005243555	benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000901540	SCV001978154	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000901540	SCV001980373	likely benign	not provided		no assertion criteria provided	clinical testing