Submissions for variant NM_022041.4(GAN):c.1239C>T (p.Ile413=)

gnomAD frequency: 0.00561  dbSNP: rs61740238

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000245021	SCV000313875	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV001697724	SCV000535187	benign	not provided	2018-12-20	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000548826	SCV000640422	benign	Giant axonal neuropathy 1	2025-01-22	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000548826	SCV001274785	likely benign	Giant axonal neuropathy 1	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000548826	SCV002049174	benign	Giant axonal neuropathy 1	2021-09-27	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000548826	SCV002811934	likely benign	Giant axonal neuropathy 1	2021-09-17	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000245021	SCV001921602	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000245021	SCV001970976	benign	not specified		no assertion criteria provided	clinical testing