Submissions for variant NM_000631.5(NCF4):c.478G>A (p.Val160Met)

gnomAD frequency: 0.00093  dbSNP: rs150103256

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000596467	SCV000700581	likely benign	not specified	2017-05-26	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001084350	SCV000770693	benign	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	2025-02-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000762071	SCV000892326	likely benign	not provided	2021-08-01	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000762071	SCV005210457	likely benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000596467	SCV001928374	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000596467	SCV001974364	benign	not specified		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003912439	SCV004736894	likely benign	NCF4-related disorder	2020-05-26	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).