Submissions for variant NM_001376.5(DYNC1H1):c.5424A>G (p.Leu1808=)

gnomAD frequency: 0.00002  dbSNP: rs770425304

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000376863	SCV000385065	uncertain significance	Intellectual Disability, Dominant	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000286877	SCV000385066	uncertain significance	Autosomal dominant cerebellar ataxia	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000342108	SCV000385067	uncertain significance	Charcot-Marie-Tooth disease type 2	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000604803	SCV000722003	likely benign	not specified	2017-08-11	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV002520890	SCV001004375	likely benign	Charcot-Marie-Tooth disease axonal type 2O	2024-09-27	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003456392	SCV004184426	likely benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing	DYNC1H1: BP4, BP7