Submissions for variant NM_001291867.2(NHS):c.4666T>A (p.Ser1556Thr)

gnomAD frequency: 0.00055  dbSNP: rs2071848

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000153559	SCV000203090	benign	not specified	2014-02-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000552111	SCV000636711	benign	Nance-Horan syndrome	2025-01-26	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002336312	SCV002638989	benign	Inborn genetic diseases	2017-07-19	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001723719	SCV001958140	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000153559	SCV001969679	benign	not specified		no assertion criteria provided	clinical testing