Submissions for variant NM_014845.6(FIG4):c.447-17dup

dbSNP: rs764540259

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Molecular Genetics Laboratory, London Health Sciences Centre	RCV001173534	SCV001336624	benign	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001459420	SCV001663259	likely benign	Charcot-Marie-Tooth disease type 4	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001564149	SCV001787262	likely benign	not provided	2018-10-02	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002491488	SCV002797296	likely benign	Amyotrophic lateral sclerosis type 11; Bilateral parasagittal parieto-occipital polymicrogyria; Charcot-Marie-Tooth disease type 4J; Yunis-Varon syndrome	2022-05-09	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001564149	SCV004159972	likely benign	not provided	2022-09-01	criteria provided, single submitter	clinical testing	FIG4: BS1
Clinical Genetics, Academic Medical Center	RCV001564149	SCV001918607	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001702087	SCV001930158	benign	not specified		no assertion criteria provided	clinical testing