Submissions for variant NM_021076.4(NEFH):c.2414A>C (p.Glu805Ala)

gnomAD frequency: 0.14527  dbSNP: rs165602

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000625212	SCV000744143	benign	Amyotrophic lateral sclerosis type 1	2015-09-21	criteria provided, single submitter	clinical testing
GeneDx	RCV000057193	SCV001949252	benign	not provided	2021-03-30	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001781392	SCV002026705	benign	Charcot-Marie-Tooth disease axonal type 2CC	2021-09-05	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000057193	SCV002447151	benign	not provided	2025-02-04	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000057193	SCV005273952	benign	not provided		criteria provided, single submitter	not provided
Epithelial Biology; Institute of Medical Biology, Singapore	RCV000057193	SCV000088306	not provided	not provided		no assertion provided	not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000625212	SCV000745597	benign	Amyotrophic lateral sclerosis type 1	2015-01-16	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001699191	SCV001923909	benign	not specified		no assertion criteria provided	clinical testing