Submissions for variant NM_020435.4(GJC2):c.108C>T (p.Ile36=)

gnomAD frequency: 0.01203  dbSNP: rs75469429

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000224514	SCV000281595	likely benign	not provided	2015-05-21	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
Invitae	RCV001086772	SCV000290475	benign	Spastic paraplegia	2024-01-23	criteria provided, single submitter	clinical testing
GeneDx	RCV000615150	SCV000720808	benign	not specified	2017-09-28	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000224514	SCV001472913	benign	not provided	2023-11-22	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001847953	SCV002104729	likely benign	Hereditary spastic paraplegia	2020-02-01	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002500753	SCV002798507	likely benign	Hypomyelinating leukodystrophy 2; Lymphatic malformation 3; Hereditary spastic paraplegia 44	2021-09-27	criteria provided, single submitter	clinical testing