Submissions for variant NM_021076.4(NEFH):c.1054C>A (p.Arg352Ser)

dbSNP: rs149955255

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000057177	SCV001101731	likely benign	not provided	2024-01-30	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000057177	SCV001153657	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	NEFH: BS2
Ambry Genetics	RCV002408558	SCV002715344	likely benign	Inborn genetic diseases	2019-09-06	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
PreventionGenetics, part of Exact Sciences	RCV003915022	SCV004728353	likely benign	NEFH-related condition	2020-03-16	criteria provided, single submitter	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).
Epithelial Biology; Institute of Medical Biology, Singapore	RCV000057177	SCV000088290	not provided	not provided		no assertion provided	not provided
GenomeConnect, ClinGen	RCV000057177	SCV000607161	not provided	not provided		no assertion provided	phenotyping only	GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.